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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.

rs571360538

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:9437083 (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>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/251254, GnomAD_exome)
T=0.0002 (1/6404, 1000G_30x)
T=0.0002 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PLCB4 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 - Exomes Global Study-wide 251254 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 135298 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48954 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34564 C=0.99994 T=0.00006
gnomAD - Exomes African Sub 16238 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10074 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6126 C=1.0000 T=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9998 T=0.0002
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=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.999 T=0.001
1000Genomes Global Study-wide 5008 C=0.9998 T=0.0002
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
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=0.999 T=0.001
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 20 NC_000020.11:g.9437083C>A
GRCh38.p14 chr 20 NC_000020.11:g.9437083C>T
GRCh37.p13 chr 20 NC_000020.10:g.9417730C>A
GRCh37.p13 chr 20 NC_000020.10:g.9417730C>T
PLCB4 RefSeqGene NG_032790.2:g.373030C>A
PLCB4 RefSeqGene NG_032790.2:g.373030C>T
Gene: PLCB4, phospholipase C beta 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PLCB4 transcript variant 2 NM_182797.3:c.2659C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b NP_877949.2:p.Pro887Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 2 NM_182797.3:c.2659C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b NP_877949.2:p.Pro887Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant 8 NM_001377143.1:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d NP_001364072.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 8 NM_001377143.1:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d NP_001364072.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant 7 NM_001377142.1:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d NP_001364071.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 7 NM_001377142.1:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d NP_001364071.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant 1 NM_000933.4:c.2659C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_000924.3:p.Pro887Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 1 NM_000933.4:c.2659C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_000924.3:p.Pro887Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant 5 NM_001377135.1:c.2659C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_001364064.1:p.Pro887Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 5 NM_001377135.1:c.2659C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_001364064.1:p.Pro887Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant 6 NM_001377136.1:c.2659C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b NP_001364065.1:p.Pro887Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 6 NM_001377136.1:c.2659C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b NP_001364065.1:p.Pro887Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant 4 NM_001377134.2:c.2659C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_001364063.1:p.Pro887Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 4 NM_001377134.2:c.2659C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_001364063.1:p.Pro887Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant 3 NM_001172646.2:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform c NP_001166117.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant 3 NM_001172646.2:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform c NP_001166117.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X1 XM_047440201.1:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_047296157.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X1 XM_047440201.1:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_047296157.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X2 XM_047440202.1:c.2659C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X2 XP_047296158.1:p.Pro887Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X2 XM_047440202.1:c.2659C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X2 XP_047296158.1:p.Pro887Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X3 XM_024451898.2:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_024307666.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X3 XM_024451898.2:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_024307666.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X4 XM_006723569.3:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_006723632.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X4 XM_006723569.3:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_006723632.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X5 XM_005260724.3:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_005260781.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X5 XM_005260724.3:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_005260781.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X6 XM_024451900.2:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_024307668.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X6 XM_024451900.2:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_024307668.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X7 XM_047440203.1:c.2695C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_047296159.1:p.Pro899Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X7 XM_047440203.1:c.2695C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_047296159.1:p.Pro899Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X8 XM_017027884.2:c.2356C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 XP_016883373.1:p.Pro786Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X8 XM_017027884.2:c.2356C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 XP_016883373.1:p.Pro786Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X9 XM_047440204.1:c.2356C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 XP_047296160.1:p.Pro786Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X9 XM_047440204.1:c.2356C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 XP_047296160.1:p.Pro786Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X10 XM_011529254.3:c.2215C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X4 XP_011527556.1:p.Pro739Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X10 XM_011529254.3:c.2215C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X4 XP_011527556.1:p.Pro739Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X11 XM_047440205.1:c.1891C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X5 XP_047296161.1:p.Pro631Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X11 XM_047440205.1:c.1891C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X5 XP_047296161.1:p.Pro631Ser P (Pro) > S (Ser) Missense Variant
PLCB4 transcript variant X12 XM_047440206.1:c.1102C>A P [CCT] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X6 XP_047296162.1:p.Pro368Thr P (Pro) > T (Thr) Missense Variant
PLCB4 transcript variant X12 XM_047440206.1:c.1102C>T P [CCT] > S [TCT] Coding Sequence Variant
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X6 XP_047296162.1:p.Pro368Ser P (Pro) > S (Ser) Missense 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.

Not Reported in ClinVar
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= A T
GRCh38.p14 chr 20 NC_000020.11:g.9437083= NC_000020.11:g.9437083C>A NC_000020.11:g.9437083C>T
GRCh37.p13 chr 20 NC_000020.10:g.9417730= NC_000020.10:g.9417730C>A NC_000020.10:g.9417730C>T
PLCB4 RefSeqGene NG_032790.2:g.373030= NG_032790.2:g.373030C>A NG_032790.2:g.373030C>T
PLCB4 transcript variant 1 NM_000933.4:c.2659= NM_000933.4:c.2659C>A NM_000933.4:c.2659C>T
PLCB4 transcript variant 1 NM_000933.3:c.2659= NM_000933.3:c.2659C>A NM_000933.3:c.2659C>T
PLCB4 transcript variant 2 NM_182797.3:c.2659= NM_182797.3:c.2659C>A NM_182797.3:c.2659C>T
PLCB4 transcript variant 2 NM_182797.2:c.2659= NM_182797.2:c.2659C>A NM_182797.2:c.2659C>T
PLCB4 transcript variant 4 NM_001377134.2:c.2659= NM_001377134.2:c.2659C>A NM_001377134.2:c.2659C>T
PLCB4 transcript variant 4 NM_001377134.1:c.2659= NM_001377134.1:c.2659C>A NM_001377134.1:c.2659C>T
PLCB4 transcript variant 3 NM_001172646.2:c.2695= NM_001172646.2:c.2695C>A NM_001172646.2:c.2695C>T
PLCB4 transcript variant 3 NM_001172646.1:c.2695= NM_001172646.1:c.2695C>A NM_001172646.1:c.2695C>T
PLCB4 transcript variant 7 NM_001377142.1:c.2695= NM_001377142.1:c.2695C>A NM_001377142.1:c.2695C>T
PLCB4 transcript variant 8 NM_001377143.1:c.2695= NM_001377143.1:c.2695C>A NM_001377143.1:c.2695C>T
PLCB4 transcript variant 5 NM_001377135.1:c.2659= NM_001377135.1:c.2659C>A NM_001377135.1:c.2659C>T
PLCB4 transcript variant 6 NM_001377136.1:c.2659= NM_001377136.1:c.2659C>A NM_001377136.1:c.2659C>T
PLCB4 transcript variant X10 XM_011529254.3:c.2215= XM_011529254.3:c.2215C>A XM_011529254.3:c.2215C>T
PLCB4 transcript variant X22 XM_011529254.2:c.2215= XM_011529254.2:c.2215C>A XM_011529254.2:c.2215C>T
PLCB4 transcript variant X7 XM_011529254.1:c.2215= XM_011529254.1:c.2215C>A XM_011529254.1:c.2215C>T
PLCB4 transcript variant X4 XM_006723569.3:c.2695= XM_006723569.3:c.2695C>A XM_006723569.3:c.2695C>T
PLCB4 transcript variant X3 XM_006723569.2:c.2695= XM_006723569.2:c.2695C>A XM_006723569.2:c.2695C>T
PLCB4 transcript variant X1 XM_006723569.1:c.2695= XM_006723569.1:c.2695C>A XM_006723569.1:c.2695C>T
PLCB4 transcript variant X5 XM_005260724.3:c.2695= XM_005260724.3:c.2695C>A XM_005260724.3:c.2695C>T
PLCB4 transcript variant X5 XM_005260724.2:c.2695= XM_005260724.2:c.2695C>A XM_005260724.2:c.2695C>T
PLCB4 transcript variant X3 XM_005260724.1:c.2695= XM_005260724.1:c.2695C>A XM_005260724.1:c.2695C>T
PLCB4 transcript variant X3 XM_024451898.2:c.2695= XM_024451898.2:c.2695C>A XM_024451898.2:c.2695C>T
PLCB4 transcript variant X1 XM_024451898.1:c.2695= XM_024451898.1:c.2695C>A XM_024451898.1:c.2695C>T
PLCB4 transcript variant X6 XM_024451900.2:c.2695= XM_024451900.2:c.2695C>A XM_024451900.2:c.2695C>T
PLCB4 transcript variant X6 XM_024451900.1:c.2695= XM_024451900.1:c.2695C>A XM_024451900.1:c.2695C>T
PLCB4 transcript variant X8 XM_017027884.2:c.2356= XM_017027884.2:c.2356C>A XM_017027884.2:c.2356C>T
PLCB4 transcript variant X21 XM_017027884.1:c.2356= XM_017027884.1:c.2356C>A XM_017027884.1:c.2356C>T
PLCB4 transcript variant X7 XM_047440203.1:c.2695= XM_047440203.1:c.2695C>A XM_047440203.1:c.2695C>T
PLCB4 transcript variant X1 XM_047440201.1:c.2695= XM_047440201.1:c.2695C>A XM_047440201.1:c.2695C>T
PLCB4 transcript variant X2 XM_047440202.1:c.2659= XM_047440202.1:c.2659C>A XM_047440202.1:c.2659C>T
PLCB4 transcript variant X9 XM_047440204.1:c.2356= XM_047440204.1:c.2356C>A XM_047440204.1:c.2356C>T
PLCB4 transcript variant X11 XM_047440205.1:c.1891= XM_047440205.1:c.1891C>A XM_047440205.1:c.1891C>T
PLCB4 transcript variant X12 XM_047440206.1:c.1102= XM_047440206.1:c.1102C>A XM_047440206.1:c.1102C>T
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_000924.3:p.Pro887= NP_000924.3:p.Pro887Thr NP_000924.3:p.Pro887Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b NP_877949.2:p.Pro887= NP_877949.2:p.Pro887Thr NP_877949.2:p.Pro887Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_001364063.1:p.Pro887= NP_001364063.1:p.Pro887Thr NP_001364063.1:p.Pro887Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform c NP_001166117.1:p.Pro899= NP_001166117.1:p.Pro899Thr NP_001166117.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d NP_001364071.1:p.Pro899= NP_001364071.1:p.Pro899Thr NP_001364071.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d NP_001364072.1:p.Pro899= NP_001364072.1:p.Pro899Thr NP_001364072.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a NP_001364064.1:p.Pro887= NP_001364064.1:p.Pro887Thr NP_001364064.1:p.Pro887Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b NP_001364065.1:p.Pro887= NP_001364065.1:p.Pro887Thr NP_001364065.1:p.Pro887Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X4 XP_011527556.1:p.Pro739= XP_011527556.1:p.Pro739Thr XP_011527556.1:p.Pro739Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_006723632.1:p.Pro899= XP_006723632.1:p.Pro899Thr XP_006723632.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_005260781.1:p.Pro899= XP_005260781.1:p.Pro899Thr XP_005260781.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_024307666.1:p.Pro899= XP_024307666.1:p.Pro899Thr XP_024307666.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_024307668.1:p.Pro899= XP_024307668.1:p.Pro899Thr XP_024307668.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 XP_016883373.1:p.Pro786= XP_016883373.1:p.Pro786Thr XP_016883373.1:p.Pro786Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_047296159.1:p.Pro899= XP_047296159.1:p.Pro899Thr XP_047296159.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1 XP_047296157.1:p.Pro899= XP_047296157.1:p.Pro899Thr XP_047296157.1:p.Pro899Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X2 XP_047296158.1:p.Pro887= XP_047296158.1:p.Pro887Thr XP_047296158.1:p.Pro887Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 XP_047296160.1:p.Pro786= XP_047296160.1:p.Pro786Thr XP_047296160.1:p.Pro786Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X5 XP_047296161.1:p.Pro631= XP_047296161.1:p.Pro631Thr XP_047296161.1:p.Pro631Ser
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X6 XP_047296162.1:p.Pro368= XP_047296162.1:p.Pro368Thr XP_047296162.1:p.Pro368Ser
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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#.

7 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1364038444 Aug 21, 2014 (142)
2 EVA_EXAC ss1693903911 Apr 01, 2015 (144)
3 EVA_EXAC ss1693903912 Apr 01, 2015 (144)
4 GNOMAD ss2744464229 Nov 08, 2017 (151)
5 EVA ss5436219209 Oct 16, 2022 (156)
6 1000G_HIGH_COVERAGE ss5614132677 Oct 16, 2022 (156)
7 EVA ss5922648098 Oct 16, 2022 (156)
8 1000Genomes NC_000020.10 - 9417730 Oct 12, 2018 (152)
9 1000Genomes_30x NC_000020.11 - 9437083 Oct 16, 2022 (156)
10 ExAC

Submission ignored due to conflicting rows:
Row 5451699 (NC_000020.10:9417729:C:C 120527/120528, NC_000020.10:9417729:C:A 1/120528)
Row 5451700 (NC_000020.10:9417729:C:C 120527/120528, NC_000020.10:9417729:C:T 1/120528)

- Oct 12, 2018 (152)
11 ExAC

Submission ignored due to conflicting rows:
Row 5451699 (NC_000020.10:9417729:C:C 120527/120528, NC_000020.10:9417729:C:A 1/120528)
Row 5451700 (NC_000020.10:9417729:C:C 120527/120528, NC_000020.10:9417729:C:T 1/120528)

- Oct 12, 2018 (152)
12 gnomAD - Exomes NC_000020.10 - 9417730 Jul 13, 2019 (153)
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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
ss1693903911 NC_000020.10:9417729:C:A NC_000020.11:9437082:C:A (self)
77477093, 13782320, ss1364038444, ss1693903912, ss2744464229, ss5436219209 NC_000020.10:9417729:C:T NC_000020.11:9437082:C:T (self)
101658612, ss5614132677, ss5922648098 NC_000020.11:9437082:C:T NC_000020.11:9437082:C:T
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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 rs571360538

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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
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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