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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs201076863

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:46756686 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000045 (12/264690, TOPMED)
T=0.000109 (27/247558, GnomAD_exome)
T=0.000043 (6/140298, GnomAD) (+ 8 more)
T=0.000137 (14/102288, ExAC)
T=0.00202 (57/28254, 14KJPN)
T=0.00004 (1/23038, ALFA)
T=0.00203 (34/16756, 8.3KJPN)
T=0.0003 (2/6404, 1000G_30x)
T=0.0004 (2/5008, 1000G)
T=0.0027 (8/2922, KOREAN)
T=0.0016 (3/1832, Korea1K)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FKRP : Missense 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 C=0.99996 T=0.00004
European Sub 15752 C=0.99994 T=0.00006
African Sub 3492 C=1.0000 T=0.0000
African Others Sub 122 C=1.000 T=0.000
African American Sub 3370 C=1.0000 T=0.0000
Asian Sub 168 C=1.000 T=0.000
East Asian Sub 112 C=1.000 T=0.000
Other Asian Sub 56 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 2772 C=1.0000 T=0.0000


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
TopMed Global Study-wide 264690 C=0.999955 T=0.000045
gnomAD - Exomes Global Study-wide 247558 C=0.999891 T=0.000109
gnomAD - Exomes European Sub 132724 C=0.999992 T=0.000008
gnomAD - Exomes Asian Sub 48618 C=0.99949 T=0.00051
gnomAD - Exomes American Sub 34328 C=0.99997 T=0.00003
gnomAD - Exomes African Sub 15874 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9972 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 6042 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140298 C=0.999957 T=0.000043
gnomAD - Genomes European Sub 75962 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42062 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13666 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=0.9981 T=0.0019
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
ExAC Global Study-wide 102288 C=0.999863 T=0.000137
ExAC Europe Sub 61820 C=1.00000 T=0.00000
ExAC Asian Sub 21962 C=0.99936 T=0.00064
ExAC American Sub 9314 C=1.0000 T=0.0000
ExAC African Sub 8474 C=1.0000 T=0.0000
ExAC Other Sub 718 C=1.000 T=0.000
14KJPN JAPANESE Study-wide 28254 C=0.99798 T=0.00202
Allele Frequency Aggregator Total Global 23038 C=0.99996 T=0.00004
Allele Frequency Aggregator European Sub 15752 C=0.99994 T=0.00006
Allele Frequency Aggregator African Sub 3492 C=1.0000 T=0.0000
Allele Frequency Aggregator Other Sub 2772 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
8.3KJPN JAPANESE Study-wide 16756 C=0.99797 T=0.00203
1000Genomes_30x Global Study-wide 6404 C=0.9997 T=0.0003
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=0.9983 T=0.0017
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9996 T=0.0004
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9980 T=0.0020
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9973 T=0.0027
Korean Genome Project KOREAN Study-wide 1832 C=0.9984 T=0.0016
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 19 NC_000019.10:g.46756686C>G
GRCh38.p14 chr 19 NC_000019.10:g.46756686C>T
GRCh37.p13 chr 19 NC_000019.9:g.47259943C>G
GRCh37.p13 chr 19 NC_000019.9:g.47259943C>T
FKRP RefSeqGene (LRG_761) NG_008898.2:g.15641C>G
FKRP RefSeqGene (LRG_761) NG_008898.2:g.15641C>T
Gene: FKRP, fukutin related protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FKRP transcript variant 1 NM_024301.5:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP NP_077277.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant 1 NM_024301.5:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP NP_077277.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant 2 NM_001039885.3:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP NP_001034974.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant 2 NM_001039885.3:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP NP_001034974.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X1 XM_017027297.3:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_016882786.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X1 XM_017027297.3:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_016882786.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X2 XM_047439421.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295377.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X2 XM_047439421.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295377.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X3 XM_047439422.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295378.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X3 XM_047439422.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295378.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X4 XM_005259248.3:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259305.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X4 XM_005259248.3:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259305.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X5 XM_005259247.3:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259304.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X5 XM_005259247.3:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259304.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X6 XM_005259249.5:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259306.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X6 XM_005259249.5:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259306.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X7 XM_047439423.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295379.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X7 XM_047439423.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295379.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X8 XM_047439424.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295380.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X8 XM_047439424.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295380.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X9 XM_047439425.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295381.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X9 XM_047439425.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295381.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X10 XM_047439426.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295382.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X10 XM_047439426.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295382.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X11 XM_047439427.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295383.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X11 XM_047439427.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295383.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X12 XM_047439428.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295384.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X12 XM_047439428.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295384.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X13 XM_024451707.2:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_024307475.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X13 XM_024451707.2:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_024307475.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X14 XM_011527306.3:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525608.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X14 XM_011527306.3:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525608.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X15 XM_011527307.2:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525609.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X15 XM_011527307.2:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525609.1:p.His412= H (His) > H (His) Synonymous Variant
FKRP transcript variant X16 XM_047439429.1:c.1236C>G H [CAC] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295385.1:p.His412Gln H (His) > Q (Gln) Missense Variant
FKRP transcript variant X16 XM_047439429.1:c.1236C>T H [CAC] > H [CAT] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295385.1:p.His412= H (His) > H (His) 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: G (allele ID: 648196 )
ClinVar Accession Disease Names Clinical Significance
RCV000803628.2 Walker-Warburg congenital muscular dystrophy Uncertain-Significance
Allele: T (allele ID: 587990 )
ClinVar Accession Disease Names Clinical Significance
RCV000732907.5 not provided Uncertain-Significance
RCV001086434.5 Walker-Warburg congenital muscular dystrophy Likely-Benign
RCV001830628.1 Autosomal recessive limb-girdle muscular dystrophy type 2I Likely-Benign
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 C= G T
GRCh38.p14 chr 19 NC_000019.10:g.46756686= NC_000019.10:g.46756686C>G NC_000019.10:g.46756686C>T
GRCh37.p13 chr 19 NC_000019.9:g.47259943= NC_000019.9:g.47259943C>G NC_000019.9:g.47259943C>T
FKRP RefSeqGene (LRG_761) NG_008898.2:g.15641= NG_008898.2:g.15641C>G NG_008898.2:g.15641C>T
FKRP transcript variant 1 NM_024301.5:c.1236= NM_024301.5:c.1236C>G NM_024301.5:c.1236C>T
FKRP transcript variant 1 NM_024301.4:c.1236= NM_024301.4:c.1236C>G NM_024301.4:c.1236C>T
FKRP transcript variant 2 NM_001039885.3:c.1236= NM_001039885.3:c.1236C>G NM_001039885.3:c.1236C>T
FKRP transcript variant 2 NM_001039885.2:c.1236= NM_001039885.2:c.1236C>G NM_001039885.2:c.1236C>T
FKRP transcript variant X6 XM_005259249.5:c.1236= XM_005259249.5:c.1236C>G XM_005259249.5:c.1236C>T
FKRP transcript variant X4 XM_005259249.4:c.1236= XM_005259249.4:c.1236C>G XM_005259249.4:c.1236C>T
FKRP transcript variant X5 XM_005259249.3:c.1236= XM_005259249.3:c.1236C>G XM_005259249.3:c.1236C>T
FKRP transcript variant X4 XM_005259249.2:c.1236= XM_005259249.2:c.1236C>G XM_005259249.2:c.1236C>T
FKRP transcript variant X4 XM_005259249.1:c.1236= XM_005259249.1:c.1236C>G XM_005259249.1:c.1236C>T
FKRP transcript variant X1 XM_017027297.3:c.1236= XM_017027297.3:c.1236C>G XM_017027297.3:c.1236C>T
FKRP transcript variant X1 XM_017027297.2:c.1236= XM_017027297.2:c.1236C>G XM_017027297.2:c.1236C>T
FKRP transcript variant X1 XM_017027297.1:c.1236= XM_017027297.1:c.1236C>G XM_017027297.1:c.1236C>T
FKRP transcript variant X5 XM_005259247.3:c.1236= XM_005259247.3:c.1236C>G XM_005259247.3:c.1236C>T
FKRP transcript variant X3 XM_005259247.2:c.1236= XM_005259247.2:c.1236C>G XM_005259247.2:c.1236C>T
FKRP transcript variant X4 XM_005259247.1:c.1236= XM_005259247.1:c.1236C>G XM_005259247.1:c.1236C>T
FKRP transcript variant X4 XM_005259248.3:c.1236= XM_005259248.3:c.1236C>G XM_005259248.3:c.1236C>T
FKRP transcript variant X2 XM_005259248.2:c.1236= XM_005259248.2:c.1236C>G XM_005259248.2:c.1236C>T
FKRP transcript variant X2 XM_005259248.1:c.1236= XM_005259248.1:c.1236C>G XM_005259248.1:c.1236C>T
FKRP transcript variant X14 XM_011527306.3:c.1236= XM_011527306.3:c.1236C>G XM_011527306.3:c.1236C>T
FKRP transcript variant X6 XM_011527306.2:c.1236= XM_011527306.2:c.1236C>G XM_011527306.2:c.1236C>T
FKRP transcript variant X5 XM_011527306.1:c.1236= XM_011527306.1:c.1236C>G XM_011527306.1:c.1236C>T
FKRP transcript variant X13 XM_024451707.2:c.1236= XM_024451707.2:c.1236C>G XM_024451707.2:c.1236C>T
FKRP transcript variant X5 XM_024451707.1:c.1236= XM_024451707.1:c.1236C>G XM_024451707.1:c.1236C>T
FKRP transcript variant X15 XM_011527307.2:c.1236= XM_011527307.2:c.1236C>G XM_011527307.2:c.1236C>T
FKRP transcript variant X7 XM_011527307.1:c.1236= XM_011527307.1:c.1236C>G XM_011527307.1:c.1236C>T
FKRP transcript variant X8 XM_047439424.1:c.1236= XM_047439424.1:c.1236C>G XM_047439424.1:c.1236C>T
FKRP transcript variant X9 XM_047439425.1:c.1236= XM_047439425.1:c.1236C>G XM_047439425.1:c.1236C>T
FKRP transcript variant X2 XM_047439421.1:c.1236= XM_047439421.1:c.1236C>G XM_047439421.1:c.1236C>T
FKRP transcript variant X3 XM_047439422.1:c.1236= XM_047439422.1:c.1236C>G XM_047439422.1:c.1236C>T
FKRP transcript variant X11 XM_047439427.1:c.1236= XM_047439427.1:c.1236C>G XM_047439427.1:c.1236C>T
FKRP transcript variant X10 XM_047439426.1:c.1236= XM_047439426.1:c.1236C>G XM_047439426.1:c.1236C>T
FKRP transcript variant X7 XM_047439423.1:c.1236= XM_047439423.1:c.1236C>G XM_047439423.1:c.1236C>T
FKRP transcript variant X12 XM_047439428.1:c.1236= XM_047439428.1:c.1236C>G XM_047439428.1:c.1236C>T
FKRP transcript variant X16 XM_047439429.1:c.1236= XM_047439429.1:c.1236C>G XM_047439429.1:c.1236C>T
ribitol 5-phosphate transferase FKRP NP_077277.1:p.His412= NP_077277.1:p.His412Gln NP_077277.1:p.His412=
ribitol 5-phosphate transferase FKRP NP_001034974.1:p.His412= NP_001034974.1:p.His412Gln NP_001034974.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259306.1:p.His412= XP_005259306.1:p.His412Gln XP_005259306.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_016882786.1:p.His412= XP_016882786.1:p.His412Gln XP_016882786.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259304.1:p.His412= XP_005259304.1:p.His412Gln XP_005259304.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259305.1:p.His412= XP_005259305.1:p.His412Gln XP_005259305.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525608.1:p.His412= XP_011525608.1:p.His412Gln XP_011525608.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_024307475.1:p.His412= XP_024307475.1:p.His412Gln XP_024307475.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525609.1:p.His412= XP_011525609.1:p.His412Gln XP_011525609.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295380.1:p.His412= XP_047295380.1:p.His412Gln XP_047295380.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295381.1:p.His412= XP_047295381.1:p.His412Gln XP_047295381.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295377.1:p.His412= XP_047295377.1:p.His412Gln XP_047295377.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295378.1:p.His412= XP_047295378.1:p.His412Gln XP_047295378.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295383.1:p.His412= XP_047295383.1:p.His412Gln XP_047295383.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295382.1:p.His412= XP_047295382.1:p.His412Gln XP_047295382.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295379.1:p.His412= XP_047295379.1:p.His412Gln XP_047295379.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295384.1:p.His412= XP_047295384.1:p.His412Gln XP_047295384.1:p.His412=
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295385.1:p.His412= XP_047295385.1:p.His412Gln XP_047295385.1:p.His412=
Help

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#.

19 SubSNP, 11 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss489172326 May 04, 2012 (137)
2 1000GENOMES ss1363382910 Aug 21, 2014 (142)
3 EVA_EXAC ss1693689876 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2226126986 Dec 20, 2016 (150)
5 GNOMAD ss2744130701 Nov 08, 2017 (151)
6 GNOMAD ss2750231500 Nov 08, 2017 (151)
7 GNOMAD ss2963495366 Nov 08, 2017 (151)
8 EVA ss3756128227 Jul 13, 2019 (153)
9 KRGDB ss3938469857 Apr 27, 2020 (154)
10 KOGIC ss3981471235 Apr 27, 2020 (154)
11 TOPMED ss5076642922 Apr 27, 2021 (155)
12 TOMMO_GENOMICS ss5228019205 Apr 27, 2021 (155)
13 1000G_HIGH_COVERAGE ss5307449085 Oct 13, 2022 (156)
14 EVA ss5435176911 Oct 13, 2022 (156)
15 HUGCELL_USP ss5499937778 Oct 13, 2022 (156)
16 1000G_HIGH_COVERAGE ss5613266357 Oct 13, 2022 (156)
17 TOMMO_GENOMICS ss5786738079 Oct 13, 2022 (156)
18 EVA ss5928313164 Oct 13, 2022 (156)
19 EVA ss5953913520 Oct 13, 2022 (156)
20 1000Genomes NC_000019.9 - 47259943 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000019.10 - 46756686 Oct 13, 2022 (156)
22 ExAC NC_000019.9 - 47259943 Oct 12, 2018 (152)
23 gnomAD - Genomes NC_000019.10 - 46756686 Apr 27, 2021 (155)
24 gnomAD - Exomes NC_000019.9 - 47259943 Jul 13, 2019 (153)
25 KOREAN population from KRGDB NC_000019.9 - 47259943 Apr 27, 2020 (154)
26 Korean Genome Project NC_000019.10 - 46756686 Apr 27, 2020 (154)
27 8.3KJPN NC_000019.9 - 47259943 Apr 27, 2021 (155)
28 14KJPN NC_000019.10 - 46756686 Oct 13, 2022 (156)
29 TopMed NC_000019.10 - 46756686 Apr 27, 2021 (155)
30 ALFA NC_000019.10 - 46756686 Apr 27, 2021 (155)
31 ClinVar RCV000732907.5 Oct 13, 2022 (156)
32 ClinVar RCV000803628.2 Oct 13, 2022 (156)
33 ClinVar RCV001086434.5 Oct 13, 2022 (156)
34 ClinVar RCV001830628.1 Oct 13, 2022 (156)
Help

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
RCV000803628.2 NC_000019.10:46756685:C:G NC_000019.10:46756685:C:G (self)
76797679, 4200381, 13445540, 45647251, 85988512, ss489172326, ss1363382910, ss1693689876, ss2744130701, ss2750231500, ss2963495366, ss3756128227, ss3938469857, ss5228019205, ss5435176911, ss5953913520 NC_000019.9:47259942:C:T NC_000019.10:46756685:C:T (self)
RCV000732907.5, RCV001086434.5, RCV001830628.1, 100792292, 541608126, 37849236, 120575183, 292188586, 12313509712, ss2226126986, ss3981471235, ss5076642922, ss5307449085, ss5499937778, ss5613266357, ss5786738079, ss5928313164 NC_000019.10:46756685:C:T NC_000019.10:46756685:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs201076863

Help

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