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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.

rs376130789

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:7663450 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000019 (5/264690, TOPMED)
C=0.000004 (1/238736, GnomAD_exome)
A=0.000014 (2/140284, GnomAD) (+ 3 more)
A=0.00004 (1/23032, ALFA)
C=0.00004 (1/23032, ALFA)
A=0.00008 (1/13006, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CAMTA1 : 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 23032 G=0.99991 A=0.00004, C=0.00004
European Sub 15748 G=0.99987 A=0.00006, C=0.00006
African Sub 3490 G=1.0000 A=0.0000, C=0.0000
African Others Sub 122 G=1.000 A=0.000, C=0.000
African American Sub 3368 G=1.0000 A=0.0000, C=0.0000
Asian Sub 168 G=1.000 A=0.000, C=0.000
East Asian Sub 112 G=1.000 A=0.000, C=0.000
Other Asian Sub 56 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00
Other Sub 2772 G=1.0000 A=0.0000, C=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 G=0.999981 A=0.000019
gnomAD - Exomes Global Study-wide 238736 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 128864 G=0.999992 C=0.000008
gnomAD - Exomes Asian Sub 45690 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 33556 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16178 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8678 G=1.0000 C=0.0000
gnomAD - Exomes Other Sub 5770 G=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140284 G=0.999986 A=0.000014
gnomAD - Genomes European Sub 75956 G=0.99997 A=0.00003
gnomAD - Genomes African Sub 42050 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13666 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 23032 G=0.99991 A=0.00004, C=0.00004
Allele Frequency Aggregator European Sub 15748 G=0.99987 A=0.00006, C=0.00006
Allele Frequency Aggregator African Sub 3490 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Other Sub 2772 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00
GO Exome Sequencing Project Global Study-wide 13006 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8600 G=0.9999 A=0.0001
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
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.7663450G>A
GRCh38.p14 chr 1 NC_000001.11:g.7663450G>C
GRCh37.p13 chr 1 NC_000001.10:g.7723510G>A
GRCh37.p13 chr 1 NC_000001.10:g.7723510G>C
CAMTA1 RefSeqGene NG_053148.1:g.883127G>A
CAMTA1 RefSeqGene NG_053148.1:g.883127G>C
Gene: CAMTA1, calmodulin binding transcription activator 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CAMTA1 transcript variant 9 NM_001349613.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 10 NM_001349614.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 11 NM_001349615.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 12 NM_001349616.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 13 NM_001349617.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 14 NM_001349618.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 15 NM_001349619.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 16 NM_001349620.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 17 NM_001349621.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 18 NM_001349622.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 19 NM_001349623.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 20 NM_001349624.3:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 21 NM_001349625.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 22 NM_001349626.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 2 NM_001195563.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 3 NM_001242701.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 23 NM_001349627.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 1 NM_015215.4:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform a NP_056030.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 1 NM_015215.4:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform a NP_056030.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 7 NM_001349610.2:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform f NP_001336539.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 7 NM_001349610.2:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform f NP_001336539.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 6 NM_001349609.2:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform e NP_001336538.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 6 NM_001349609.2:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform e NP_001336538.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 8 NM_001349612.2:c.813G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform g NP_001336541.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 8 NM_001349612.2:c.813G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform g NP_001336541.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 5 NM_001349608.2:c.813G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform d NP_001336537.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 5 NM_001349608.2:c.813G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform d NP_001336537.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant 4 NR_038934.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 25 NR_146202.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 26 NR_146203.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 27 NR_146204.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X18 XM_024454329.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X19 XM_024454330.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X20 XM_024454331.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X21 XM_024454332.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X22 XM_024454333.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X23 XM_024454334.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X24 XM_017000780.3:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X25 XM_017000781.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X1 XM_011541083.3:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X1 XP_011539385.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X1 XM_011541083.3:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X1 XP_011539385.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X2 XM_011541084.3:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X2 XP_011539386.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X2 XM_011541084.3:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X2 XP_011539386.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X3 XM_047415988.1:c.891G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X3 XP_047271944.1:p.Ser297= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X3 XM_047415988.1:c.891G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X3 XP_047271944.1:p.Ser297= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X4 XM_011541086.4:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X4 XP_011539388.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X4 XM_011541086.4:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X4 XP_011539388.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X5 XM_017000774.3:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X5 XP_016856263.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X5 XM_017000774.3:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X5 XP_016856263.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X6 XM_011541087.3:c.831G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X6 XP_011539389.1:p.Ser277= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X6 XM_011541087.3:c.831G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X6 XP_011539389.1:p.Ser277= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X7 XM_047415993.1:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X7 XP_047271949.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X7 XM_047415993.1:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X7 XP_047271949.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X8 XM_011541088.3:c.813G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X8 XP_011539390.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X8 XM_011541088.3:c.813G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X8 XP_011539390.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X9 XM_047415997.1:c.831G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X9 XP_047271953.1:p.Ser277= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X9 XM_047415997.1:c.831G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X9 XP_047271953.1:p.Ser277= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X10 XM_047415999.1:c.813G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X10 XP_047271955.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X10 XM_047415999.1:c.813G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X10 XP_047271955.1:p.Ser271= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X11 XM_047416005.1:c.741G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X11 XP_047271961.1:p.Ser247= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X11 XM_047416005.1:c.741G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X11 XP_047271961.1:p.Ser247= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X12 XM_047416009.1:c.585G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X12 XP_047271965.1:p.Ser195= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X12 XM_047416009.1:c.585G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X12 XP_047271965.1:p.Ser195= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X13 XM_011541090.4:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X13 XP_011539392.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X13 XM_011541090.4:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X13 XP_011539392.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X14 XM_017000777.2:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856266.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X14 XM_017000777.2:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856266.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X14 XM_017000778.2:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856267.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X14 XM_017000778.2:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856267.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X16 XM_047416020.1:c.831G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_047271976.1:p.Ser277= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X16 XM_047416020.1:c.831G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_047271976.1:p.Ser277= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X15 XM_047416024.1:c.741G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X15 XP_047271980.1:p.Ser247= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X15 XM_047416024.1:c.741G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X15 XP_047271980.1:p.Ser247= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X16 XM_011541091.3:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_011539393.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X16 XM_011541091.3:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_011539393.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X17 XM_011541092.4:c.903G>A S [TCG] > S [TCA] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X17 XP_011539394.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X17 XM_011541092.4:c.903G>C S [TCG] > S [TCC] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X17 XP_011539394.1:p.Ser301= S (Ser) > S (Ser) Synonymous Variant
CAMTA1 transcript variant X26 XR_001737062.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X28 XR_001737064.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X27 XR_007057950.1:n. N/A Genic Downstream Transcript 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 G= A C
GRCh38.p14 chr 1 NC_000001.11:g.7663450= NC_000001.11:g.7663450G>A NC_000001.11:g.7663450G>C
GRCh37.p13 chr 1 NC_000001.10:g.7723510= NC_000001.10:g.7723510G>A NC_000001.10:g.7723510G>C
CAMTA1 RefSeqGene NG_053148.1:g.883127= NG_053148.1:g.883127G>A NG_053148.1:g.883127G>C
CAMTA1 transcript variant 1 NM_015215.4:c.903= NM_015215.4:c.903G>A NM_015215.4:c.903G>C
CAMTA1 transcript variant 1 NM_015215.3:c.903= NM_015215.3:c.903G>A NM_015215.3:c.903G>C
CAMTA1 transcript variant 1 NM_015215.2:c.903= NM_015215.2:c.903G>A NM_015215.2:c.903G>C
CAMTA1 transcript variant 5 NM_001349608.2:c.813= NM_001349608.2:c.813G>A NM_001349608.2:c.813G>C
CAMTA1 transcript variant 5 NM_001349608.1:c.813= NM_001349608.1:c.813G>A NM_001349608.1:c.813G>C
CAMTA1 transcript variant 7 NM_001349610.2:c.903= NM_001349610.2:c.903G>A NM_001349610.2:c.903G>C
CAMTA1 transcript variant 7 NM_001349610.1:c.903= NM_001349610.1:c.903G>A NM_001349610.1:c.903G>C
CAMTA1 transcript variant 6 NM_001349609.2:c.903= NM_001349609.2:c.903G>A NM_001349609.2:c.903G>C
CAMTA1 transcript variant 6 NM_001349609.1:c.903= NM_001349609.1:c.903G>A NM_001349609.1:c.903G>C
CAMTA1 transcript variant 8 NM_001349612.2:c.813= NM_001349612.2:c.813G>A NM_001349612.2:c.813G>C
CAMTA1 transcript variant 8 NM_001349612.1:c.813= NM_001349612.1:c.813G>A NM_001349612.1:c.813G>C
CAMTA1 transcript variant 28 NM_001410737.1:c.903= NM_001410737.1:c.903G>A NM_001410737.1:c.903G>C
CAMTA1 transcript variant 29 NM_001410738.1:c.831= NM_001410738.1:c.831G>A NM_001410738.1:c.831G>C
CAMTA1 transcript variant X4 XM_011541086.4:c.903= XM_011541086.4:c.903G>A XM_011541086.4:c.903G>C
CAMTA1 transcript variant X3 XM_011541086.3:c.903= XM_011541086.3:c.903G>A XM_011541086.3:c.903G>C
CAMTA1 transcript variant X5 XM_011541086.2:c.903= XM_011541086.2:c.903G>A XM_011541086.2:c.903G>C
CAMTA1 transcript variant X4 XM_011541086.1:c.903= XM_011541086.1:c.903G>A XM_011541086.1:c.903G>C
CAMTA1 transcript variant X13 XM_011541090.4:c.903= XM_011541090.4:c.903G>A XM_011541090.4:c.903G>C
CAMTA1 transcript variant X7 XM_011541090.3:c.903= XM_011541090.3:c.903G>A XM_011541090.3:c.903G>C
CAMTA1 transcript variant X12 XM_011541090.2:c.903= XM_011541090.2:c.903G>A XM_011541090.2:c.903G>C
CAMTA1 transcript variant X8 XM_011541090.1:c.903= XM_011541090.1:c.903G>A XM_011541090.1:c.903G>C
CAMTA1 transcript variant X17 XM_011541092.4:c.903= XM_011541092.4:c.903G>A XM_011541092.4:c.903G>C
CAMTA1 transcript variant X11 XM_011541092.3:c.903= XM_011541092.3:c.903G>A XM_011541092.3:c.903G>C
CAMTA1 transcript variant X17 XM_011541092.2:c.903= XM_011541092.2:c.903G>A XM_011541092.2:c.903G>C
CAMTA1 transcript variant X10 XM_011541092.1:c.903= XM_011541092.1:c.903G>A XM_011541092.1:c.903G>C
CAMTA1 transcript variant X2 XM_011541084.3:c.903= XM_011541084.3:c.903G>A XM_011541084.3:c.903G>C
CAMTA1 transcript variant X2 XM_011541084.2:c.903= XM_011541084.2:c.903G>A XM_011541084.2:c.903G>C
CAMTA1 transcript variant X2 XM_011541084.1:c.903= XM_011541084.1:c.903G>A XM_011541084.1:c.903G>C
CAMTA1 transcript variant X1 XM_011541083.3:c.903= XM_011541083.3:c.903G>A XM_011541083.3:c.903G>C
CAMTA1 transcript variant X1 XM_011541083.2:c.903= XM_011541083.2:c.903G>A XM_011541083.2:c.903G>C
CAMTA1 transcript variant X1 XM_011541083.1:c.903= XM_011541083.1:c.903G>A XM_011541083.1:c.903G>C
CAMTA1 transcript variant X8 XM_011541088.3:c.813= XM_011541088.3:c.813G>A XM_011541088.3:c.813G>C
CAMTA1 transcript variant X6 XM_011541088.2:c.813= XM_011541088.2:c.813G>A XM_011541088.2:c.813G>C
CAMTA1 transcript variant X6 XM_011541088.1:c.813= XM_011541088.1:c.813G>A XM_011541088.1:c.813G>C
CAMTA1 transcript variant X6 XM_011541087.3:c.831= XM_011541087.3:c.831G>A XM_011541087.3:c.831G>C
CAMTA1 transcript variant X5 XM_011541087.2:c.831= XM_011541087.2:c.831G>A XM_011541087.2:c.831G>C
CAMTA1 transcript variant X5 XM_011541087.1:c.831= XM_011541087.1:c.831G>A XM_011541087.1:c.831G>C
CAMTA1 transcript variant X5 XM_017000774.3:c.903= XM_017000774.3:c.903G>A XM_017000774.3:c.903G>C
CAMTA1 transcript variant X4 XM_017000774.2:c.903= XM_017000774.2:c.903G>A XM_017000774.2:c.903G>C
CAMTA1 transcript variant X6 XM_017000774.1:c.903= XM_017000774.1:c.903G>A XM_017000774.1:c.903G>C
CAMTA1 transcript variant X16 XM_011541091.3:c.903= XM_011541091.3:c.903G>A XM_011541091.3:c.903G>C
CAMTA1 transcript variant X10 XM_011541091.2:c.903= XM_011541091.2:c.903G>A XM_011541091.2:c.903G>C
CAMTA1 transcript variant X9 XM_011541091.1:c.903= XM_011541091.1:c.903G>A XM_011541091.1:c.903G>C
CAMTA1 transcript variant X14 XM_017000778.2:c.903= XM_017000778.2:c.903G>A XM_017000778.2:c.903G>C
CAMTA1 transcript variant X9 XM_017000778.1:c.903= XM_017000778.1:c.903G>A XM_017000778.1:c.903G>C
CAMTA1 transcript variant X14 XM_017000777.2:c.903= XM_017000777.2:c.903G>A XM_017000777.2:c.903G>C
CAMTA1 transcript variant X3 XM_047415988.1:c.891= XM_047415988.1:c.891G>A XM_047415988.1:c.891G>C
CAMTA1 transcript variant X12 XM_047416009.1:c.585= XM_047416009.1:c.585G>A XM_047416009.1:c.585G>C
CAMTA1 transcript variant X10 XM_047415999.1:c.813= XM_047415999.1:c.813G>A XM_047415999.1:c.813G>C
CAMTA1 transcript variant X9 XM_047415997.1:c.831= XM_047415997.1:c.831G>A XM_047415997.1:c.831G>C
CAMTA1 transcript variant X11 XM_047416005.1:c.741= XM_047416005.1:c.741G>A XM_047416005.1:c.741G>C
CAMTA1 transcript variant X16 XM_047416020.1:c.831= XM_047416020.1:c.831G>A XM_047416020.1:c.831G>C
CAMTA1 transcript variant X15 XM_047416024.1:c.741= XM_047416024.1:c.741G>A XM_047416024.1:c.741G>C
CAMTA1 transcript variant X7 XM_047415993.1:c.903= XM_047415993.1:c.903G>A XM_047415993.1:c.903G>C
calmodulin-binding transcription activator 1 isoform a NP_056030.1:p.Ser301= NP_056030.1:p.Ser301= NP_056030.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform d NP_001336537.1:p.Ser271= NP_001336537.1:p.Ser271= NP_001336537.1:p.Ser271=
calmodulin-binding transcription activator 1 isoform f NP_001336539.1:p.Ser301= NP_001336539.1:p.Ser301= NP_001336539.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform e NP_001336538.1:p.Ser301= NP_001336538.1:p.Ser301= NP_001336538.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform g NP_001336541.1:p.Ser271= NP_001336541.1:p.Ser271= NP_001336541.1:p.Ser271=
calmodulin-binding transcription activator 1 isoform X4 XP_011539388.1:p.Ser301= XP_011539388.1:p.Ser301= XP_011539388.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X13 XP_011539392.1:p.Ser301= XP_011539392.1:p.Ser301= XP_011539392.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X17 XP_011539394.1:p.Ser301= XP_011539394.1:p.Ser301= XP_011539394.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X2 XP_011539386.1:p.Ser301= XP_011539386.1:p.Ser301= XP_011539386.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X1 XP_011539385.1:p.Ser301= XP_011539385.1:p.Ser301= XP_011539385.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X8 XP_011539390.1:p.Ser271= XP_011539390.1:p.Ser271= XP_011539390.1:p.Ser271=
calmodulin-binding transcription activator 1 isoform X6 XP_011539389.1:p.Ser277= XP_011539389.1:p.Ser277= XP_011539389.1:p.Ser277=
calmodulin-binding transcription activator 1 isoform X5 XP_016856263.1:p.Ser301= XP_016856263.1:p.Ser301= XP_016856263.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X16 XP_011539393.1:p.Ser301= XP_011539393.1:p.Ser301= XP_011539393.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X14 XP_016856267.1:p.Ser301= XP_016856267.1:p.Ser301= XP_016856267.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X14 XP_016856266.1:p.Ser301= XP_016856266.1:p.Ser301= XP_016856266.1:p.Ser301=
calmodulin-binding transcription activator 1 isoform X3 XP_047271944.1:p.Ser297= XP_047271944.1:p.Ser297= XP_047271944.1:p.Ser297=
calmodulin-binding transcription activator 1 isoform X12 XP_047271965.1:p.Ser195= XP_047271965.1:p.Ser195= XP_047271965.1:p.Ser195=
calmodulin-binding transcription activator 1 isoform X10 XP_047271955.1:p.Ser271= XP_047271955.1:p.Ser271= XP_047271955.1:p.Ser271=
calmodulin-binding transcription activator 1 isoform X9 XP_047271953.1:p.Ser277= XP_047271953.1:p.Ser277= XP_047271953.1:p.Ser277=
calmodulin-binding transcription activator 1 isoform X11 XP_047271961.1:p.Ser247= XP_047271961.1:p.Ser247= XP_047271961.1:p.Ser247=
calmodulin-binding transcription activator 1 isoform X16 XP_047271976.1:p.Ser277= XP_047271976.1:p.Ser277= XP_047271976.1:p.Ser277=
calmodulin-binding transcription activator 1 isoform X15 XP_047271980.1:p.Ser247= XP_047271980.1:p.Ser247= XP_047271980.1:p.Ser247=
calmodulin-binding transcription activator 1 isoform X7 XP_047271949.1:p.Ser301= XP_047271949.1:p.Ser301= XP_047271949.1:p.Ser301=
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#.

8 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712270014 Apr 25, 2013 (138)
2 EVA_EXAC ss1685277024 Apr 01, 2015 (144)
3 EVA_EXAC ss1685277025 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2159830490 Dec 20, 2016 (150)
5 GNOMAD ss2731080735 Nov 08, 2017 (151)
6 EVA ss3823554231 Apr 25, 2020 (154)
7 GNOMAD ss3987871620 Apr 27, 2021 (155)
8 TOPMED ss4438331880 Apr 27, 2021 (155)
9 ExAC

Submission ignored due to conflicting rows:
Row 4454445 (NC_000001.10:7723509:G:G 112633/112634, NC_000001.10:7723509:G:A 1/112634)
Row 4454446 (NC_000001.10:7723509:G:G 112633/112634, NC_000001.10:7723509:G:C 1/112634)

- Oct 11, 2018 (152)
10 ExAC

Submission ignored due to conflicting rows:
Row 4454445 (NC_000001.10:7723509:G:G 112633/112634, NC_000001.10:7723509:G:A 1/112634)
Row 4454446 (NC_000001.10:7723509:G:G 112633/112634, NC_000001.10:7723509:G:C 1/112634)

- Oct 11, 2018 (152)
11 gnomAD - Genomes NC_000001.11 - 7663450 Apr 27, 2021 (155)
12 gnomAD - Exomes NC_000001.10 - 7723510 Jul 12, 2019 (153)
13 GO Exome Sequencing Project NC_000001.10 - 7723510 Oct 11, 2018 (152)
14 TopMed NC_000001.11 - 7663450 Apr 27, 2021 (155)
15 ALFA NC_000001.11 - 7663450 Apr 27, 2021 (155)
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
12962, ss712270014, ss1685277025, ss2731080735, ss3823554231 NC_000001.10:7723509:G:A NC_000001.11:7663449:G:A (self)
1728499, 1938215, 3540023018, ss2159830490, ss3987871620, ss4438331880 NC_000001.11:7663449:G:A NC_000001.11:7663449:G:A (self)
95195, ss1685277024, ss2731080735 NC_000001.10:7723509:G:C NC_000001.11:7663449:G:C (self)
3540023018 NC_000001.11:7663449:G:C NC_000001.11:7663449:G:C (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 rs376130789

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