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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.

rs1485890799

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:122886318 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000008 (2/264690, TOPMED)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CADPS2 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=0.000 1.0 0.0 0.0 N/A


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=0.999992 A=0.000008
Allele Frequency Aggregator Total Global 14050 C=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00
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 7 NC_000007.14:g.122886318C>A
GRCh37.p13 chr 7 NC_000007.13:g.122526372C>A
CADPS2 RefSeqGene NG_016215.2:g.5442G>T
Gene: CADPS2, calcium dependent secretion activator 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CADPS2 transcript variant 14 NM_001363399.2:c.-516= N/A 5 Prime UTR Variant
CADPS2 transcript variant 15 NM_001363400.2:c.-516= N/A 5 Prime UTR Variant
CADPS2 transcript variant 1 NM_017954.11:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform a NP_060424.9:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 6 NM_001363391.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform f NP_001350320.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 7 NM_001363392.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform g NP_001350321.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 8 NM_001363393.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform h NP_001350322.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 9 NM_001363394.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform i NP_001350323.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 2 NM_001009571.4:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform b NP_001009571.2:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 11 NM_001363396.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform k NP_001350325.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 12 NM_001363397.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform l NP_001350326.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 5 NM_001363390.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform e NP_001350319.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 3 NM_001167940.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform c NP_001161412.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 13 NM_001363398.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform m NP_001350327.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 4 NM_001363389.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform d NP_001350318.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant 10 NM_001363395.2:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform j NP_001350324.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X13 XM_017012796.3:c.-516= N/A 5 Prime UTR Variant
CADPS2 transcript variant X14 XM_047421034.1:c. N/A Genic Upstream Transcript Variant
CADPS2 transcript variant X1 XM_005250697.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X1 XP_005250754.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X2 XM_005250696.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X2 XP_005250753.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X3 XM_005250699.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X3 XP_005250756.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X4 XM_047421031.1:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X4 XP_047276987.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X5 XM_005250701.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X5 XP_005250758.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X6 XM_017012794.3:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X6 XP_016868283.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X7 XM_005250702.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X7 XP_005250759.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X8 XM_047421032.1:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X8 XP_047276988.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X9 XM_005250704.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X9 XP_005250761.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X10 XM_047421033.1:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X10 XP_047276989.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X11 XM_005250706.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X11 XP_005250763.1:p.Ser7Ile S (Ser) > I (Ile) Missense Variant
CADPS2 transcript variant X12 XM_005250707.6:c.20G>T S [AGC] > I [ATC] Coding Sequence Variant
calcium-dependent secretion activator 2 isoform X12 XP_005250764.1:p.Ser7Ile S (Ser) > I (Ile) 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
GRCh38.p14 chr 7 NC_000007.14:g.122886318= NC_000007.14:g.122886318C>A
GRCh37.p13 chr 7 NC_000007.13:g.122526372= NC_000007.13:g.122526372C>A
CADPS2 RefSeqGene NG_016215.2:g.5442= NG_016215.2:g.5442G>T
CADPS2 transcript variant 1 NM_017954.11:c.20= NM_017954.11:c.20G>T
CADPS2 transcript variant 1 NM_017954.10:c.20= NM_017954.10:c.20G>T
CADPS2 transcript variant 2 NM_001009571.4:c.20= NM_001009571.4:c.20G>T
CADPS2 transcript variant 2 NM_001009571.3:c.20= NM_001009571.3:c.20G>T
CADPS2 transcript variant 14 NM_001363399.2:c.-516= NM_001363399.2:c.-516G>T
CADPS2 transcript variant 14 NM_001363399.1:c.-516= NM_001363399.1:c.-516G>T
CADPS2 transcript variant 4 NM_001363389.2:c.20= NM_001363389.2:c.20G>T
CADPS2 transcript variant 4 NM_001363389.1:c.20= NM_001363389.1:c.20G>T
CADPS2 transcript variant 5 NM_001363390.2:c.20= NM_001363390.2:c.20G>T
CADPS2 transcript variant 5 NM_001363390.1:c.20= NM_001363390.1:c.20G>T
CADPS2 transcript variant 6 NM_001363391.2:c.20= NM_001363391.2:c.20G>T
CADPS2 transcript variant 6 NM_001363391.1:c.20= NM_001363391.1:c.20G>T
CADPS2 transcript variant 3 NM_001167940.2:c.20= NM_001167940.2:c.20G>T
CADPS2 transcript variant 3 NM_001167940.1:c.20= NM_001167940.1:c.20G>T
CADPS2 transcript variant 15 NM_001363400.2:c.-516= NM_001363400.2:c.-516G>T
CADPS2 transcript variant 15 NM_001363400.1:c.-516= NM_001363400.1:c.-516G>T
CADPS2 transcript variant 7 NM_001363392.2:c.20= NM_001363392.2:c.20G>T
CADPS2 transcript variant 7 NM_001363392.1:c.20= NM_001363392.1:c.20G>T
CADPS2 transcript variant 8 NM_001363393.2:c.20= NM_001363393.2:c.20G>T
CADPS2 transcript variant 8 NM_001363393.1:c.20= NM_001363393.1:c.20G>T
CADPS2 transcript variant 9 NM_001363394.2:c.20= NM_001363394.2:c.20G>T
CADPS2 transcript variant 9 NM_001363394.1:c.20= NM_001363394.1:c.20G>T
CADPS2 transcript variant 10 NM_001363395.2:c.20= NM_001363395.2:c.20G>T
CADPS2 transcript variant 10 NM_001363395.1:c.20= NM_001363395.1:c.20G>T
CADPS2 transcript variant 11 NM_001363396.2:c.20= NM_001363396.2:c.20G>T
CADPS2 transcript variant 11 NM_001363396.1:c.20= NM_001363396.1:c.20G>T
CADPS2 transcript variant 12 NM_001363397.2:c.20= NM_001363397.2:c.20G>T
CADPS2 transcript variant 12 NM_001363397.1:c.20= NM_001363397.1:c.20G>T
CADPS2 transcript variant 13 NM_001363398.2:c.20= NM_001363398.2:c.20G>T
CADPS2 transcript variant 13 NM_001363398.1:c.20= NM_001363398.1:c.20G>T
CADPS2 transcript variant X1 XM_005250697.6:c.20= XM_005250697.6:c.20G>T
CADPS2 transcript variant X2 XM_005250697.5:c.20= XM_005250697.5:c.20G>T
CADPS2 transcript variant X2 XM_005250697.4:c.20= XM_005250697.4:c.20G>T
CADPS2 transcript variant X2 XM_005250697.3:c.20= XM_005250697.3:c.20G>T
CADPS2 transcript variant X3 XM_005250697.2:c.20= XM_005250697.2:c.20G>T
CADPS2 transcript variant X3 XM_005250697.1:c.20= XM_005250697.1:c.20G>T
CADPS2 transcript variant X2 XM_005250696.6:c.20= XM_005250696.6:c.20G>T
CADPS2 transcript variant X3 XM_005250696.5:c.20= XM_005250696.5:c.20G>T
CADPS2 transcript variant X3 XM_005250696.4:c.20= XM_005250696.4:c.20G>T
CADPS2 transcript variant X3 XM_005250696.3:c.20= XM_005250696.3:c.20G>T
CADPS2 transcript variant X2 XM_005250696.2:c.20= XM_005250696.2:c.20G>T
CADPS2 transcript variant X2 XM_005250696.1:c.20= XM_005250696.1:c.20G>T
CADPS2 transcript variant X3 XM_005250699.6:c.20= XM_005250699.6:c.20G>T
CADPS2 transcript variant X5 XM_005250699.5:c.20= XM_005250699.5:c.20G>T
CADPS2 transcript variant X5 XM_005250699.4:c.20= XM_005250699.4:c.20G>T
CADPS2 transcript variant X5 XM_005250699.3:c.20= XM_005250699.3:c.20G>T
CADPS2 transcript variant X5 XM_005250699.2:c.20= XM_005250699.2:c.20G>T
CADPS2 transcript variant X5 XM_005250699.1:c.20= XM_005250699.1:c.20G>T
CADPS2 transcript variant X5 XM_005250701.6:c.20= XM_005250701.6:c.20G>T
CADPS2 transcript variant X7 XM_005250701.5:c.20= XM_005250701.5:c.20G>T
CADPS2 transcript variant X7 XM_005250701.4:c.20= XM_005250701.4:c.20G>T
CADPS2 transcript variant X7 XM_005250701.3:c.20= XM_005250701.3:c.20G>T
CADPS2 transcript variant X7 XM_005250701.2:c.20= XM_005250701.2:c.20G>T
CADPS2 transcript variant X7 XM_005250701.1:c.20= XM_005250701.1:c.20G>T
CADPS2 transcript variant X7 XM_005250702.6:c.20= XM_005250702.6:c.20G>T
CADPS2 transcript variant X9 XM_005250702.5:c.20= XM_005250702.5:c.20G>T
CADPS2 transcript variant X9 XM_005250702.4:c.20= XM_005250702.4:c.20G>T
CADPS2 transcript variant X8 XM_005250702.3:c.20= XM_005250702.3:c.20G>T
CADPS2 transcript variant X8 XM_005250702.2:c.20= XM_005250702.2:c.20G>T
CADPS2 transcript variant X8 XM_005250702.1:c.20= XM_005250702.1:c.20G>T
CADPS2 transcript variant X9 XM_005250704.6:c.20= XM_005250704.6:c.20G>T
CADPS2 transcript variant X11 XM_005250704.5:c.20= XM_005250704.5:c.20G>T
CADPS2 transcript variant X11 XM_005250704.4:c.20= XM_005250704.4:c.20G>T
CADPS2 transcript variant X10 XM_005250704.3:c.20= XM_005250704.3:c.20G>T
CADPS2 transcript variant X10 XM_005250704.2:c.20= XM_005250704.2:c.20G>T
CADPS2 transcript variant X10 XM_005250704.1:c.20= XM_005250704.1:c.20G>T
CADPS2 transcript variant X11 XM_005250706.6:c.20= XM_005250706.6:c.20G>T
CADPS2 transcript variant X13 XM_005250706.5:c.20= XM_005250706.5:c.20G>T
CADPS2 transcript variant X13 XM_005250706.4:c.20= XM_005250706.4:c.20G>T
CADPS2 transcript variant X12 XM_005250706.3:c.20= XM_005250706.3:c.20G>T
CADPS2 transcript variant X12 XM_005250706.2:c.20= XM_005250706.2:c.20G>T
CADPS2 transcript variant X12 XM_005250706.1:c.20= XM_005250706.1:c.20G>T
CADPS2 transcript variant X12 XM_005250707.6:c.20= XM_005250707.6:c.20G>T
CADPS2 transcript variant X15 XM_005250707.5:c.20= XM_005250707.5:c.20G>T
CADPS2 transcript variant X15 XM_005250707.4:c.20= XM_005250707.4:c.20G>T
CADPS2 transcript variant X14 XM_005250707.3:c.20= XM_005250707.3:c.20G>T
CADPS2 transcript variant X13 XM_005250707.2:c.20= XM_005250707.2:c.20G>T
CADPS2 transcript variant X13 XM_005250707.1:c.20= XM_005250707.1:c.20G>T
CADPS2 transcript variant X13 XM_017012796.3:c.-516= XM_017012796.3:c.-516G>T
CADPS2 transcript variant X6 XM_017012794.3:c.20= XM_017012794.3:c.20G>T
CADPS2 transcript variant X8 XM_017012794.2:c.20= XM_017012794.2:c.20G>T
CADPS2 transcript variant X8 XM_017012794.1:c.20= XM_017012794.1:c.20G>T
CADPS2 transcript variant X4 XM_047421031.1:c.20= XM_047421031.1:c.20G>T
CADPS2 transcript variant X8 XM_047421032.1:c.20= XM_047421032.1:c.20G>T
CADPS2 transcript variant X10 XM_047421033.1:c.20= XM_047421033.1:c.20G>T
calcium-dependent secretion activator 2 isoform a NP_060424.9:p.Ser7= NP_060424.9:p.Ser7Ile
calcium-dependent secretion activator 2 isoform b NP_001009571.2:p.Ser7= NP_001009571.2:p.Ser7Ile
calcium-dependent secretion activator 2 isoform d NP_001350318.1:p.Ser7= NP_001350318.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform e NP_001350319.1:p.Ser7= NP_001350319.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform f NP_001350320.1:p.Ser7= NP_001350320.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform c NP_001161412.1:p.Ser7= NP_001161412.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform g NP_001350321.1:p.Ser7= NP_001350321.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform h NP_001350322.1:p.Ser7= NP_001350322.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform i NP_001350323.1:p.Ser7= NP_001350323.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform j NP_001350324.1:p.Ser7= NP_001350324.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform k NP_001350325.1:p.Ser7= NP_001350325.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform l NP_001350326.1:p.Ser7= NP_001350326.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform m NP_001350327.1:p.Ser7= NP_001350327.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X1 XP_005250754.1:p.Ser7= XP_005250754.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X2 XP_005250753.1:p.Ser7= XP_005250753.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X3 XP_005250756.1:p.Ser7= XP_005250756.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X5 XP_005250758.1:p.Ser7= XP_005250758.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X7 XP_005250759.1:p.Ser7= XP_005250759.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X9 XP_005250761.1:p.Ser7= XP_005250761.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X11 XP_005250763.1:p.Ser7= XP_005250763.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X12 XP_005250764.1:p.Ser7= XP_005250764.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X6 XP_016868283.1:p.Ser7= XP_016868283.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X4 XP_047276987.1:p.Ser7= XP_047276987.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X8 XP_047276988.1:p.Ser7= XP_047276988.1:p.Ser7Ile
calcium-dependent secretion activator 2 isoform X10 XP_047276989.1:p.Ser7= XP_047276989.1:p.Ser7Ile
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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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4762248280 Apr 26, 2021 (155)
2 TopMed NC_000007.14 - 122886318 Apr 26, 2021 (155)
3 ALFA NC_000007.14 - 122886318 Apr 26, 2021 (155)
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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
599625839, 14866635616, ss4762248280 NC_000007.14:122886317:C:A NC_000007.14:122886317:C:A (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 rs1485890799

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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.post820+afb47a3d