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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs764435162

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:16996293 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000014 (2/140264, GnomAD)
T=0.000033 (4/121020, ExAC)
A=0.00004 (1/28258, 14KJPN) (+ 3 more)
T=0.00022 (5/23038, ALFA)
A=0.00006 (1/16760, 8.3KJPN)
T=0.005 (1/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ATP13A2 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 23038 G=0.99978 A=0.00000, T=0.00022
European Sub 15752 G=0.99994 A=0.00000, T=0.00006
African Sub 3492 G=0.9994 A=0.0000, T=0.0006
African Others Sub 122 G=1.000 A=0.000, T=0.000
African American Sub 3370 G=0.9994 A=0.0000, T=0.0006
Asian Sub 168 G=1.000 A=0.000, T=0.000
East Asian Sub 112 G=1.000 A=0.000, T=0.000
Other Asian Sub 56 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 2772 G=0.9993 A=0.0000, T=0.0007


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 140264 G=0.999986 T=0.000014
gnomAD - Genomes European Sub 75950 G=0.99999 T=0.00001
gnomAD - Genomes African Sub 42050 G=0.99998 T=0.00002
gnomAD - Genomes American Sub 13656 G=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 T=0.0000
ExAC Global Study-wide 121020 G=0.999967 T=0.000033
ExAC Europe Sub 73030 G=0.99996 T=0.00004
ExAC Asian Sub 25156 G=1.00000 T=0.00000
ExAC American Sub 11562 G=1.00000 T=0.00000
ExAC African Sub 10370 G=1.00000 T=0.00000
ExAC Other Sub 902 G=0.999 T=0.001
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
Allele Frequency Aggregator Total Global 23038 G=0.99978 A=0.00000, T=0.00022
Allele Frequency Aggregator European Sub 15752 G=0.99994 A=0.00000, T=0.00006
Allele Frequency Aggregator African Sub 3492 G=0.9994 A=0.0000, T=0.0006
Allele Frequency Aggregator Other Sub 2772 G=0.9993 A=0.0000, T=0.0007
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
Qatari Global Study-wide 216 G=0.995 T=0.005
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.16996293G>A
GRCh38.p14 chr 1 NC_000001.11:g.16996293G>T
GRCh37.p13 chr 1 NC_000001.10:g.17322788G>A
GRCh37.p13 chr 1 NC_000001.10:g.17322788G>T
ATP13A2 RefSeqGene (LRG_834) NG_009054.1:g.20636C>T
ATP13A2 RefSeqGene (LRG_834) NG_009054.1:g.20636C>A
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH NW_025791756.1:g.1411470G>A
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH NW_025791756.1:g.1411470G>T
Gene: ATP13A2, ATPase cation transporting 13A2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP13A2 transcript variant 1 NM_022089.4:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 1 NP_071372.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant 1 NM_022089.4:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 1 NP_071372.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant 3 NM_001141974.3:c.1299C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 3 NP_001135446.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant 3 NM_001141974.3:c.1299C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 3 NP_001135446.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant 2 NM_001141973.3:c.1299C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 2 NP_001135445.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant 2 NM_001141973.3:c.1299C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 2 NP_001135445.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X1 XM_005245810.2:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X1 XP_005245867.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X1 XM_005245810.2:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X1 XP_005245867.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X2 XM_005245811.2:c.1299C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X2 XP_005245868.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X2 XM_005245811.2:c.1299C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X2 XP_005245868.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X3 XM_011541128.2:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X3 XP_011539430.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X3 XM_011541128.2:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X3 XP_011539430.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X4 XM_006710512.2:c.1296C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X4 XP_006710575.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X4 XM_006710512.2:c.1296C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X4 XP_006710575.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X5 XM_047416537.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X5 XP_047272493.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X5 XM_047416537.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X5 XP_047272493.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X6 XM_005245812.2:c.1287C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X6 XP_005245869.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X6 XM_005245812.2:c.1287C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X6 XP_005245869.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X7 XM_047416538.1:c.1299C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X7 XP_047272494.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X7 XM_047416538.1:c.1299C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X7 XP_047272494.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X8 XM_047416539.1:c.1284C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X8 XP_047272495.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X8 XM_047416539.1:c.1284C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X8 XP_047272495.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X9 XM_006710513.2:c.1272C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X9 XP_006710576.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X9 XM_006710513.2:c.1272C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X9 XP_006710576.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X10 XM_047416542.1:c.1269C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X10 XP_047272498.1:p.Leu423= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X10 XM_047416542.1:c.1269C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X10 XP_047272498.1:p.Leu423= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X11 XM_047416544.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X11 XP_047272500.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X11 XM_047416544.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X11 XP_047272500.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X12 XM_017000844.2:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X12 XP_016856333.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X12 XM_017000844.2:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X12 XP_016856333.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X13 XM_017000845.2:c.1296C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X13 XP_016856334.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X13 XM_017000845.2:c.1296C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X13 XP_016856334.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X14 XM_047416546.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X14 XP_047272502.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X14 XM_047416546.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X14 XP_047272502.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X15 XM_047416547.1:c.1287C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X15 XP_047272503.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X15 XM_047416547.1:c.1287C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X15 XP_047272503.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X16 XM_047416548.1:c.1284C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X16 XP_047272504.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X16 XM_047416548.1:c.1284C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X16 XP_047272504.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X17 XM_047416549.1:c.1299C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X17 XP_047272505.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X17 XM_047416549.1:c.1299C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X17 XP_047272505.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X18 XM_047416550.1:c.1296C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X18 XP_047272506.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X18 XM_047416550.1:c.1296C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X18 XP_047272506.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X19 XM_017000846.2:c.1272C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X19 XP_016856335.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X19 XM_017000846.2:c.1272C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X19 XP_016856335.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X20 XM_047416551.1:c.1287C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X20 XP_047272507.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X20 XM_047416551.1:c.1287C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X20 XP_047272507.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X21 XM_047416553.1:c.1269C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X21 XP_047272509.1:p.Leu423= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X21 XM_047416553.1:c.1269C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X21 XP_047272509.1:p.Leu423= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X22 XM_017000847.2:c.1284C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X22 XP_016856336.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X22 XM_017000847.2:c.1284C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X22 XP_016856336.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X23 XM_005245815.2:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X23 XP_005245872.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X23 XM_005245815.2:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X23 XP_005245872.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X24 XM_047416554.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X24 XP_047272510.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X24 XM_047416554.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X24 XP_047272510.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X25 XM_047416556.1:c.1272C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X25 XP_047272512.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X25 XM_047416556.1:c.1272C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X25 XP_047272512.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X26 XM_017000848.2:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X26 XP_016856337.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X26 XM_017000848.2:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X26 XP_016856337.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X27 XM_047416560.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X27 XP_047272516.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X27 XM_047416560.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X27 XP_047272516.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X28 XM_017000849.2:c.1299C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X28 XP_016856338.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X28 XM_017000849.2:c.1299C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X28 XP_016856338.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X29 XM_047416562.1:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X29 XP_047272518.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X29 XM_047416562.1:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X29 XP_047272518.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X30 XM_047416563.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X30 XP_047272519.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X30 XM_047416563.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X30 XP_047272519.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X31 XM_011541129.2:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X31 XP_011539431.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X31 XM_011541129.2:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X31 XP_011539431.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X32 XM_047416564.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X32 XP_047272520.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X32 XM_047416564.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X32 XP_047272520.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X33 XM_047416565.1:c.1287C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X33 XP_047272521.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X33 XM_047416565.1:c.1287C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X33 XP_047272521.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X34 XM_047416566.1:c.1287C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X34 XP_047272522.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X34 XM_047416566.1:c.1287C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X34 XP_047272522.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X35 XM_017000850.2:c.1314C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X35 XP_016856339.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X35 XM_017000850.2:c.1314C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X35 XP_016856339.1:p.Leu438= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X36 XM_047416567.1:c.1311C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X36 XP_047272523.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X36 XM_047416567.1:c.1311C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X36 XP_047272523.1:p.Leu437= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X37 XM_047416568.1:c.1299C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X37 XP_047272524.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X37 XM_047416568.1:c.1299C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X37 XP_047272524.1:p.Leu433= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X38 XM_047416569.1:c.1296C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X38 XP_047272525.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X38 XM_047416569.1:c.1296C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X38 XP_047272525.1:p.Leu432= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X39 XM_047416570.1:c.1287C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X39 XP_047272526.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X39 XM_047416570.1:c.1287C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X39 XP_047272526.1:p.Leu429= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X40 XM_047416571.1:c.1272C>T L [CTC] > L [CTT] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X40 XP_047272527.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
ATP13A2 transcript variant X40 XM_047416571.1:c.1272C>A L [CTC] > L [CTA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X40 XP_047272527.1:p.Leu424= L (Leu) > L (Leu) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 1647151 )
ClinVar Accession Disease Names Clinical Significance
RCV002129137.3 Autosomal recessive spastic paraplegia type 78,Kufor-Rakeb syndrome Likely-Benign
Allele: T (allele ID: 277547 )
ClinVar Accession Disease Names Clinical Significance
RCV000326531.3 Kufor-Rakeb syndrome Uncertain-Significance
RCV000811676.1 Autosomal recessive spastic paraplegia type 78,Kufor-Rakeb syndrome Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A T
GRCh38.p14 chr 1 NC_000001.11:g.16996293= NC_000001.11:g.16996293G>A NC_000001.11:g.16996293G>T
GRCh37.p13 chr 1 NC_000001.10:g.17322788= NC_000001.10:g.17322788G>A NC_000001.10:g.17322788G>T
ATP13A2 RefSeqGene (LRG_834) NG_009054.1:g.20636= NG_009054.1:g.20636C>T NG_009054.1:g.20636C>A
ATP13A2 transcript variant 1 NM_022089.4:c.1314= NM_022089.4:c.1314C>T NM_022089.4:c.1314C>A
ATP13A2 transcript variant 1 NM_022089.3:c.1314= NM_022089.3:c.1314C>T NM_022089.3:c.1314C>A
ATP13A2 transcript variant 1 NM_022089.2:c.1314= NM_022089.2:c.1314C>T NM_022089.2:c.1314C>A
ATP13A2 transcript variant 2 NM_001141973.3:c.1299= NM_001141973.3:c.1299C>T NM_001141973.3:c.1299C>A
ATP13A2 transcript variant 2 NM_001141973.2:c.1299= NM_001141973.2:c.1299C>T NM_001141973.2:c.1299C>A
ATP13A2 transcript variant 2 NM_001141973.1:c.1299= NM_001141973.1:c.1299C>T NM_001141973.1:c.1299C>A
ATP13A2 transcript variant 3 NM_001141974.3:c.1299= NM_001141974.3:c.1299C>T NM_001141974.3:c.1299C>A
ATP13A2 transcript variant 3 NM_001141974.2:c.1299= NM_001141974.2:c.1299C>T NM_001141974.2:c.1299C>A
ATP13A2 transcript variant 3 NM_001141974.1:c.1299= NM_001141974.1:c.1299C>T NM_001141974.1:c.1299C>A
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH NW_025791756.1:g.1411470= NW_025791756.1:g.1411470G>A NW_025791756.1:g.1411470G>T
ATP13A2 transcript variant X12 XM_017000844.2:c.1314= XM_017000844.2:c.1314C>T XM_017000844.2:c.1314C>A
ATP13A2 transcript variant X7 XM_017000844.1:c.1314= XM_017000844.1:c.1314C>T XM_017000844.1:c.1314C>A
ATP13A2 transcript variant X13 XM_017000845.2:c.1296= XM_017000845.2:c.1296C>T XM_017000845.2:c.1296C>A
ATP13A2 transcript variant X8 XM_017000845.1:c.1296= XM_017000845.1:c.1296C>T XM_017000845.1:c.1296C>A
ATP13A2 transcript variant X19 XM_017000846.2:c.1272= XM_017000846.2:c.1272C>T XM_017000846.2:c.1272C>A
ATP13A2 transcript variant X9 XM_017000846.1:c.1272= XM_017000846.1:c.1272C>T XM_017000846.1:c.1272C>A
ATP13A2 transcript variant X22 XM_017000847.2:c.1284= XM_017000847.2:c.1284C>T XM_017000847.2:c.1284C>A
ATP13A2 transcript variant X10 XM_017000847.1:c.1284= XM_017000847.1:c.1284C>T XM_017000847.1:c.1284C>A
ATP13A2 transcript variant X26 XM_017000848.2:c.1314= XM_017000848.2:c.1314C>T XM_017000848.2:c.1314C>A
ATP13A2 transcript variant X12 XM_017000848.1:c.1314= XM_017000848.1:c.1314C>T XM_017000848.1:c.1314C>A
ATP13A2 transcript variant X28 XM_017000849.2:c.1299= XM_017000849.2:c.1299C>T XM_017000849.2:c.1299C>A
ATP13A2 transcript variant X13 XM_017000849.1:c.1299= XM_017000849.1:c.1299C>T XM_017000849.1:c.1299C>A
ATP13A2 transcript variant X1 XM_005245810.2:c.1311= XM_005245810.2:c.1311C>T XM_005245810.2:c.1311C>A
ATP13A2 transcript variant X1 XM_005245810.1:c.1311= XM_005245810.1:c.1311C>T XM_005245810.1:c.1311C>A
ATP13A2 transcript variant X3 XM_011541128.2:c.1314= XM_011541128.2:c.1314C>T XM_011541128.2:c.1314C>A
ATP13A2 transcript variant X3 XM_011541128.1:c.1314= XM_011541128.1:c.1314C>T XM_011541128.1:c.1314C>A
ATP13A2 transcript variant X2 XM_005245811.2:c.1299= XM_005245811.2:c.1299C>T XM_005245811.2:c.1299C>A
ATP13A2 transcript variant X2 XM_005245811.1:c.1299= XM_005245811.1:c.1299C>T XM_005245811.1:c.1299C>A
ATP13A2 transcript variant X4 XM_006710512.2:c.1296= XM_006710512.2:c.1296C>T XM_006710512.2:c.1296C>A
ATP13A2 transcript variant X4 XM_006710512.1:c.1296= XM_006710512.1:c.1296C>T XM_006710512.1:c.1296C>A
ATP13A2 transcript variant X6 XM_005245812.2:c.1287= XM_005245812.2:c.1287C>T XM_005245812.2:c.1287C>A
ATP13A2 transcript variant X5 XM_005245812.1:c.1287= XM_005245812.1:c.1287C>T XM_005245812.1:c.1287C>A
ATP13A2 transcript variant X35 XM_017000850.2:c.1314= XM_017000850.2:c.1314C>T XM_017000850.2:c.1314C>A
ATP13A2 transcript variant X15 XM_017000850.1:c.1314= XM_017000850.1:c.1314C>T XM_017000850.1:c.1314C>A
ATP13A2 transcript variant X9 XM_006710513.2:c.1272= XM_006710513.2:c.1272C>T XM_006710513.2:c.1272C>A
ATP13A2 transcript variant X6 XM_006710513.1:c.1272= XM_006710513.1:c.1272C>T XM_006710513.1:c.1272C>A
ATP13A2 transcript variant X23 XM_005245815.2:c.1314= XM_005245815.2:c.1314C>T XM_005245815.2:c.1314C>A
ATP13A2 transcript variant X11 XM_005245815.1:c.1314= XM_005245815.1:c.1314C>T XM_005245815.1:c.1314C>A
ATP13A2 transcript variant X31 XM_011541129.2:c.1314= XM_011541129.2:c.1314C>T XM_011541129.2:c.1314C>A
ATP13A2 transcript variant X14 XM_011541129.1:c.1314= XM_011541129.1:c.1314C>T XM_011541129.1:c.1314C>A
ATP13A2 transcript variant X14 XM_047416546.1:c.1311= XM_047416546.1:c.1311C>T XM_047416546.1:c.1311C>A
ATP13A2 transcript variant X15 XM_047416547.1:c.1287= XM_047416547.1:c.1287C>T XM_047416547.1:c.1287C>A
ATP13A2 transcript variant X16 XM_047416548.1:c.1284= XM_047416548.1:c.1284C>T XM_047416548.1:c.1284C>A
ATP13A2 transcript variant X18 XM_047416550.1:c.1296= XM_047416550.1:c.1296C>T XM_047416550.1:c.1296C>A
ATP13A2 transcript variant X20 XM_047416551.1:c.1287= XM_047416551.1:c.1287C>T XM_047416551.1:c.1287C>A
ATP13A2 transcript variant X21 XM_047416553.1:c.1269= XM_047416553.1:c.1269C>T XM_047416553.1:c.1269C>A
ATP13A2 transcript variant X25 XM_047416556.1:c.1272= XM_047416556.1:c.1272C>T XM_047416556.1:c.1272C>A
ATP13A2 transcript variant X27 XM_047416560.1:c.1311= XM_047416560.1:c.1311C>T XM_047416560.1:c.1311C>A
ATP13A2 transcript variant X29 XM_047416562.1:c.1314= XM_047416562.1:c.1314C>T XM_047416562.1:c.1314C>A
ATP13A2 transcript variant X33 XM_047416565.1:c.1287= XM_047416565.1:c.1287C>T XM_047416565.1:c.1287C>A
ATP13A2 transcript variant X8 XM_047416539.1:c.1284= XM_047416539.1:c.1284C>T XM_047416539.1:c.1284C>A
ATP13A2 transcript variant X7 XM_047416538.1:c.1299= XM_047416538.1:c.1299C>T XM_047416538.1:c.1299C>A
ATP13A2 transcript variant X36 XM_047416567.1:c.1311= XM_047416567.1:c.1311C>T XM_047416567.1:c.1311C>A
ATP13A2 transcript variant X10 XM_047416542.1:c.1269= XM_047416542.1:c.1269C>T XM_047416542.1:c.1269C>A
ATP13A2 transcript variant X37 XM_047416568.1:c.1299= XM_047416568.1:c.1299C>T XM_047416568.1:c.1299C>A
ATP13A2 transcript variant X38 XM_047416569.1:c.1296= XM_047416569.1:c.1296C>T XM_047416569.1:c.1296C>A
ATP13A2 transcript variant X39 XM_047416570.1:c.1287= XM_047416570.1:c.1287C>T XM_047416570.1:c.1287C>A
ATP13A2 transcript variant X40 XM_047416571.1:c.1272= XM_047416571.1:c.1272C>T XM_047416571.1:c.1272C>A
ATP13A2 transcript variant X24 XM_047416554.1:c.1311= XM_047416554.1:c.1311C>T XM_047416554.1:c.1311C>A
ATP13A2 transcript variant X32 XM_047416564.1:c.1311= XM_047416564.1:c.1311C>T XM_047416564.1:c.1311C>A
ATP13A2 transcript variant X34 XM_047416566.1:c.1287= XM_047416566.1:c.1287C>T XM_047416566.1:c.1287C>A
ATP13A2 transcript variant X17 XM_047416549.1:c.1299= XM_047416549.1:c.1299C>T XM_047416549.1:c.1299C>A
ATP13A2 transcript variant X5 XM_047416537.1:c.1311= XM_047416537.1:c.1311C>T XM_047416537.1:c.1311C>A
ATP13A2 transcript variant X30 XM_047416563.1:c.1311= XM_047416563.1:c.1311C>T XM_047416563.1:c.1311C>A
ATP13A2 transcript variant X11 XM_047416544.1:c.1311= XM_047416544.1:c.1311C>T XM_047416544.1:c.1311C>A
polyamine-transporting ATPase 13A2 isoform 1 NP_071372.1:p.Leu438= NP_071372.1:p.Leu438= NP_071372.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform 2 NP_001135445.1:p.Leu433= NP_001135445.1:p.Leu433= NP_001135445.1:p.Leu433=
polyamine-transporting ATPase 13A2 isoform 3 NP_001135446.1:p.Leu433= NP_001135446.1:p.Leu433= NP_001135446.1:p.Leu433=
polyamine-transporting ATPase 13A2 isoform X12 XP_016856333.1:p.Leu438= XP_016856333.1:p.Leu438= XP_016856333.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform X13 XP_016856334.1:p.Leu432= XP_016856334.1:p.Leu432= XP_016856334.1:p.Leu432=
polyamine-transporting ATPase 13A2 isoform X19 XP_016856335.1:p.Leu424= XP_016856335.1:p.Leu424= XP_016856335.1:p.Leu424=
polyamine-transporting ATPase 13A2 isoform X22 XP_016856336.1:p.Leu428= XP_016856336.1:p.Leu428= XP_016856336.1:p.Leu428=
polyamine-transporting ATPase 13A2 isoform X26 XP_016856337.1:p.Leu438= XP_016856337.1:p.Leu438= XP_016856337.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform X28 XP_016856338.1:p.Leu433= XP_016856338.1:p.Leu433= XP_016856338.1:p.Leu433=
polyamine-transporting ATPase 13A2 isoform X1 XP_005245867.1:p.Leu437= XP_005245867.1:p.Leu437= XP_005245867.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X3 XP_011539430.1:p.Leu438= XP_011539430.1:p.Leu438= XP_011539430.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform X2 XP_005245868.1:p.Leu433= XP_005245868.1:p.Leu433= XP_005245868.1:p.Leu433=
polyamine-transporting ATPase 13A2 isoform X4 XP_006710575.1:p.Leu432= XP_006710575.1:p.Leu432= XP_006710575.1:p.Leu432=
polyamine-transporting ATPase 13A2 isoform X6 XP_005245869.1:p.Leu429= XP_005245869.1:p.Leu429= XP_005245869.1:p.Leu429=
polyamine-transporting ATPase 13A2 isoform X35 XP_016856339.1:p.Leu438= XP_016856339.1:p.Leu438= XP_016856339.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform X9 XP_006710576.1:p.Leu424= XP_006710576.1:p.Leu424= XP_006710576.1:p.Leu424=
polyamine-transporting ATPase 13A2 isoform X23 XP_005245872.1:p.Leu438= XP_005245872.1:p.Leu438= XP_005245872.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform X31 XP_011539431.1:p.Leu438= XP_011539431.1:p.Leu438= XP_011539431.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform X14 XP_047272502.1:p.Leu437= XP_047272502.1:p.Leu437= XP_047272502.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X15 XP_047272503.1:p.Leu429= XP_047272503.1:p.Leu429= XP_047272503.1:p.Leu429=
polyamine-transporting ATPase 13A2 isoform X16 XP_047272504.1:p.Leu428= XP_047272504.1:p.Leu428= XP_047272504.1:p.Leu428=
polyamine-transporting ATPase 13A2 isoform X18 XP_047272506.1:p.Leu432= XP_047272506.1:p.Leu432= XP_047272506.1:p.Leu432=
polyamine-transporting ATPase 13A2 isoform X20 XP_047272507.1:p.Leu429= XP_047272507.1:p.Leu429= XP_047272507.1:p.Leu429=
polyamine-transporting ATPase 13A2 isoform X21 XP_047272509.1:p.Leu423= XP_047272509.1:p.Leu423= XP_047272509.1:p.Leu423=
polyamine-transporting ATPase 13A2 isoform X25 XP_047272512.1:p.Leu424= XP_047272512.1:p.Leu424= XP_047272512.1:p.Leu424=
polyamine-transporting ATPase 13A2 isoform X27 XP_047272516.1:p.Leu437= XP_047272516.1:p.Leu437= XP_047272516.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X29 XP_047272518.1:p.Leu438= XP_047272518.1:p.Leu438= XP_047272518.1:p.Leu438=
polyamine-transporting ATPase 13A2 isoform X33 XP_047272521.1:p.Leu429= XP_047272521.1:p.Leu429= XP_047272521.1:p.Leu429=
polyamine-transporting ATPase 13A2 isoform X8 XP_047272495.1:p.Leu428= XP_047272495.1:p.Leu428= XP_047272495.1:p.Leu428=
polyamine-transporting ATPase 13A2 isoform X7 XP_047272494.1:p.Leu433= XP_047272494.1:p.Leu433= XP_047272494.1:p.Leu433=
polyamine-transporting ATPase 13A2 isoform X36 XP_047272523.1:p.Leu437= XP_047272523.1:p.Leu437= XP_047272523.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X10 XP_047272498.1:p.Leu423= XP_047272498.1:p.Leu423= XP_047272498.1:p.Leu423=
polyamine-transporting ATPase 13A2 isoform X37 XP_047272524.1:p.Leu433= XP_047272524.1:p.Leu433= XP_047272524.1:p.Leu433=
polyamine-transporting ATPase 13A2 isoform X38 XP_047272525.1:p.Leu432= XP_047272525.1:p.Leu432= XP_047272525.1:p.Leu432=
polyamine-transporting ATPase 13A2 isoform X39 XP_047272526.1:p.Leu429= XP_047272526.1:p.Leu429= XP_047272526.1:p.Leu429=
polyamine-transporting ATPase 13A2 isoform X40 XP_047272527.1:p.Leu424= XP_047272527.1:p.Leu424= XP_047272527.1:p.Leu424=
polyamine-transporting ATPase 13A2 isoform X24 XP_047272510.1:p.Leu437= XP_047272510.1:p.Leu437= XP_047272510.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X32 XP_047272520.1:p.Leu437= XP_047272520.1:p.Leu437= XP_047272520.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X34 XP_047272522.1:p.Leu429= XP_047272522.1:p.Leu429= XP_047272522.1:p.Leu429=
polyamine-transporting ATPase 13A2 isoform X17 XP_047272505.1:p.Leu433= XP_047272505.1:p.Leu433= XP_047272505.1:p.Leu433=
polyamine-transporting ATPase 13A2 isoform X5 XP_047272493.1:p.Leu437= XP_047272493.1:p.Leu437= XP_047272493.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X30 XP_047272519.1:p.Leu437= XP_047272519.1:p.Leu437= XP_047272519.1:p.Leu437=
polyamine-transporting ATPase 13A2 isoform X11 XP_047272500.1:p.Leu437= XP_047272500.1:p.Leu437= XP_047272500.1:p.Leu437=
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

10 SubSNP, 10 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1685345145 Apr 01, 2015 (144)
2 WEILL_CORNELL_DGM ss1918106354 Feb 12, 2016 (147)
3 HUMAN_LONGEVITY ss2160339099 Dec 20, 2016 (150)
4 GNOMAD ss2731183792 Nov 08, 2017 (151)
5 GNOMAD ss3989044922 Apr 27, 2021 (155)
6 TOPMED ss4440545905 Apr 27, 2021 (155)
7 TOPMED ss4440545906 Apr 27, 2021 (155)
8 TOMMO_GENOMICS ss5142708845 Apr 27, 2021 (155)
9 EVA ss5237631133 Oct 12, 2022 (156)
10 TOMMO_GENOMICS ss5667079107 Oct 12, 2022 (156)
11 ExAC NC_000001.10 - 17322788 Oct 11, 2018 (152)
12 gnomAD - Genomes NC_000001.11 - 16996293 Apr 27, 2021 (155)
13 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 196194 (NC_000001.10:17322787:G:G 251273/251274, NC_000001.10:17322787:G:A 1/251274)
Row 196195 (NC_000001.10:17322787:G:G 251266/251274, NC_000001.10:17322787:G:T 8/251274)

- Jul 12, 2019 (153)
14 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 196194 (NC_000001.10:17322787:G:G 251273/251274, NC_000001.10:17322787:G:A 1/251274)
Row 196195 (NC_000001.10:17322787:G:G 251266/251274, NC_000001.10:17322787:G:T 8/251274)

- Jul 12, 2019 (153)
15 Qatari NC_000001.10 - 17322788 Apr 25, 2020 (154)
16 8.3KJPN NC_000001.10 - 17322788 Apr 27, 2021 (155)
17 14KJPN NC_000001.11 - 16996293 Oct 12, 2022 (156)
18 TopMed

Submission ignored due to conflicting rows:
Row 4152240 (NC_000001.11:16996292:G:A 1/264690)
Row 4152241 (NC_000001.11:16996292:G:T 5/264690)

- Apr 27, 2021 (155)
19 TopMed

Submission ignored due to conflicting rows:
Row 4152240 (NC_000001.11:16996292:G:A 1/264690)
Row 4152241 (NC_000001.11:16996292:G:T 5/264690)

- Apr 27, 2021 (155)
20 ALFA NC_000001.11 - 16996293 Apr 27, 2021 (155)
21 ClinVar RCV000326531.3 Oct 12, 2022 (156)
22 ClinVar RCV000811676.1 Apr 25, 2020 (154)
23 ClinVar RCV002129137.3 Oct 12, 2022 (156)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
678152, ss2731183792, ss5142708845 NC_000001.10:17322787:G:A NC_000001.11:16996292:G:A (self)
RCV002129137.3, 916211, 7466648800, ss4440545905, ss5667079107 NC_000001.11:16996292:G:A NC_000001.11:16996292:G:A (self)
4527312, 148284, ss1685345145, ss1918106354, ss2731183792 NC_000001.10:17322787:G:T NC_000001.11:16996292:G:T (self)
RCV000326531.3, RCV000811676.1, 3705097, 7466648800, ss2160339099, ss3989044922, ss4440545906, ss5237631133 NC_000001.11:16996292:G:T NC_000001.11:16996292:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs764435162

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07