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.
rs1323024662
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:6820222 (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
- T>A / T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/264690, TOPMED)C=0.000004 (1/248948, GnomAD_exome)A=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CAMTA1 : Stop Gained
- 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 | 14050 | T=1.00000 | A=0.00000 |
| European | Sub | 9690 | T=1.0000 | A=0.0000 |
| African | Sub | 2898 | T=1.0000 | A=0.0000 |
| African Others | Sub | 114 | T=1.000 | A=0.000 |
| African American | Sub | 2784 | T=1.0000 | A=0.0000 |
| Asian | Sub | 112 | T=1.000 | A=0.000 |
| East Asian | Sub | 86 | T=1.00 | A=0.00 |
| Other Asian | Sub | 26 | T=1.00 | A=0.00 |
| Latin American 1 | Sub | 146 | T=1.000 | A=0.000 |
| Latin American 2 | Sub | 610 | T=1.000 | A=0.000 |
| South Asian | Sub | 98 | T=1.00 | A=0.00 |
| Other | Sub | 496 | T=1.000 | A=0.000 |
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 | T=0.999996 | A=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 248948 | T=0.999996 | C=0.000004 |
| gnomAD - Exomes | European | Sub | 132930 | T=0.999992 | C=0.000008 |
| gnomAD - Exomes | Asian | Sub | 49010 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | American | Sub | 34568 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | African | Sub | 16254 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10070 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | Other | Sub | 6116 | T=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | T=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | T=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | T=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | T=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | T=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | T=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | T=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | T=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 1 | NC_000001.11:g.6820222T>A |
| GRCh38.p14 chr 1 | NC_000001.11:g.6820222T>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.6880282T>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.6880282T>C |
| CAMTA1 RefSeqGene | NG_053148.1:g.39899T>A |
| CAMTA1 RefSeqGene | NG_053148.1:g.39899T>C |
Gene: CAMTA1, calmodulin binding transcription activator 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CAMTA1 transcript variant 5 |
NM_001349608.2:c.26-4870T… NM_001349608.2:c.26-4870T>A |
N/A | Intron Variant |
| CAMTA1 transcript variant 8 |
NM_001349612.2:c.26-4870T… NM_001349612.2:c.26-4870T>A |
N/A | Intron Variant |
| CAMTA1 transcript variant 23 |
NM_001349627.2:c.152-4870… NM_001349627.2:c.152-4870T>A |
N/A | Intron Variant |
| 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 1 | NM_015215.4:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform a | NP_056030.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant 1 | NM_015215.4:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform a | NP_056030.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant 7 | NM_001349610.2:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform f | NP_001336539.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant 7 | NM_001349610.2:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform f | NP_001336539.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant 2 | NM_001195563.2:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform b | NP_001182492.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant 2 | NM_001195563.2:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform b | NP_001182492.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant 6 | NM_001349609.2:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform e | NP_001336538.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant 6 | NM_001349609.2:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform e | NP_001336538.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant 3 | NM_001242701.2:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform c | NP_001229630.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant 3 | NM_001242701.2:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform c | NP_001229630.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant 4 | NR_038934.2:n. | N/A | Intron Variant |
| CAMTA1 transcript variant 25 | NR_146202.2:n. | N/A | Intron Variant |
| CAMTA1 transcript variant 26 | NR_146203.2:n. | N/A | Intron Variant |
| CAMTA1 transcript variant 27 | NR_146204.2:n. | N/A | Intron Variant |
| CAMTA1 transcript variant X8 |
XM_011541088.3:c.26-4870T… XM_011541088.3:c.26-4870T>A |
N/A | Intron Variant |
| CAMTA1 transcript variant X10 |
XM_047415999.1:c.26-4870T… XM_047415999.1:c.26-4870T>A |
N/A | Intron Variant |
| CAMTA1 transcript variant X11 |
XM_047416005.1:c.26-4870T… XM_047416005.1:c.26-4870T>A |
N/A | Intron Variant |
| CAMTA1 transcript variant X15 |
XM_047416024.1:c.26-4870T… XM_047416024.1:c.26-4870T>A |
N/A | Intron Variant |
| CAMTA1 transcript variant X12 | XM_047416009.1:c.-232= | N/A | 5 Prime UTR 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 X1 | XM_011541083.3:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X1 | XP_011539385.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X1 | XM_011541083.3:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X1 | XP_011539385.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X2 | XM_011541084.3:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X2 | XP_011539386.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X2 | XM_011541084.3:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X2 | XP_011539386.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X3 | XM_047415988.1:c.75T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X3 | XP_047271944.1:p.Cys25Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X3 | XM_047415988.1:c.75T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X3 | XP_047271944.1:p.Cys25= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X4 | XM_011541086.4:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X4 | XP_011539388.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X4 | XM_011541086.4:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X4 | XP_011539388.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X5 | XM_017000774.3:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X5 | XP_016856263.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X5 | XM_017000774.3:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X5 | XP_016856263.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X6 | XM_011541087.3:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X6 | XP_011539389.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X6 | XM_011541087.3:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X6 | XP_011539389.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X7 | XM_047415993.1:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X7 | XP_047271949.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X7 | XM_047415993.1:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X7 | XP_047271949.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X9 | XM_047415997.1:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X9 | XP_047271953.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X9 | XM_047415997.1:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X9 | XP_047271953.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X13 | XM_011541090.4:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X13 | XP_011539392.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X13 | XM_011541090.4:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X13 | XP_011539392.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X14 | XM_017000777.2:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X14 | XP_016856266.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X14 | XM_017000777.2:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X14 | XP_016856266.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X14 | XM_017000778.2:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X14 | XP_016856267.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X14 | XM_017000778.2:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X14 | XP_016856267.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X16 | XM_047416020.1:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X16 | XP_047271976.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X16 | XM_047416020.1:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X16 | XP_047271976.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X16 | XM_011541091.3:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X16 | XP_011539393.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X16 | XM_011541091.3:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X16 | XP_011539393.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X17 | XM_011541092.4:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X17 | XP_011539394.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X17 | XM_011541092.4:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X17 | XP_011539394.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X24 | XM_017000780.3:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X22 | XP_016856269.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X24 | XM_017000780.3:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X22 | XP_016856269.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X25 | XM_017000781.2:c.87T>A | C [TGT] > * [TGA] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X23 | XP_016856270.1:p.Cys29Ter | C (Cys) > * (Ter) | Stop Gained |
| CAMTA1 transcript variant X25 | XM_017000781.2:c.87T>C | C [TGT] > C [TGC] | Coding Sequence Variant |
| calmodulin-binding transcription activator 1 isoform X23 | XP_016856270.1:p.Cys29= | C (Cys) > C (Cys) | Synonymous Variant |
| CAMTA1 transcript variant X26 | XR_001737062.2:n.164T>A | N/A | Non Coding Transcript Variant |
| CAMTA1 transcript variant X26 | XR_001737062.2:n.164T>C | N/A | Non Coding Transcript Variant |
| CAMTA1 transcript variant X27 | XR_007057950.1:n.164T>A | N/A | Non Coding Transcript Variant |
| CAMTA1 transcript variant X27 | XR_007057950.1:n.164T>C | N/A | Non Coding Transcript Variant |
| CAMTA1 transcript variant X28 | XR_001737064.2:n.164T>A | N/A | Non Coding Transcript Variant |
| CAMTA1 transcript variant X28 | XR_001737064.2:n.164T>C | N/A | Non Coding 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 | T= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.6820222= | NC_000001.11:g.6820222T>A | NC_000001.11:g.6820222T>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.6880282= | NC_000001.10:g.6880282T>A | NC_000001.10:g.6880282T>C |
| CAMTA1 RefSeqGene | NG_053148.1:g.39899= | NG_053148.1:g.39899T>A | NG_053148.1:g.39899T>C |
| CAMTA1 transcript variant 1 | NM_015215.4:c.87= | NM_015215.4:c.87T>A | NM_015215.4:c.87T>C |
| CAMTA1 transcript variant 1 | NM_015215.3:c.87= | NM_015215.3:c.87T>A | NM_015215.3:c.87T>C |
| CAMTA1 transcript variant 1 | NM_015215.2:c.87= | NM_015215.2:c.87T>A | NM_015215.2:c.87T>C |
| CAMTA1 transcript variant 7 | NM_001349610.2:c.87= | NM_001349610.2:c.87T>A | NM_001349610.2:c.87T>C |
| CAMTA1 transcript variant 7 | NM_001349610.1:c.87= | NM_001349610.1:c.87T>A | NM_001349610.1:c.87T>C |
| CAMTA1 transcript variant 6 | NM_001349609.2:c.87= | NM_001349609.2:c.87T>A | NM_001349609.2:c.87T>C |
| CAMTA1 transcript variant 6 | NM_001349609.1:c.87= | NM_001349609.1:c.87T>A | NM_001349609.1:c.87T>C |
| CAMTA1 transcript variant 3 | NM_001242701.2:c.87= | NM_001242701.2:c.87T>A | NM_001242701.2:c.87T>C |
| CAMTA1 transcript variant 3 | NM_001242701.1:c.87= | NM_001242701.1:c.87T>A | NM_001242701.1:c.87T>C |
| CAMTA1 transcript variant 2 | NM_001195563.2:c.87= | NM_001195563.2:c.87T>A | NM_001195563.2:c.87T>C |
| CAMTA1 transcript variant 2 | NM_001195563.1:c.87= | NM_001195563.1:c.87T>A | NM_001195563.1:c.87T>C |
| CAMTA1 transcript variant 28 | NM_001410737.1:c.87= | NM_001410737.1:c.87T>A | NM_001410737.1:c.87T>C |
| CAMTA1 transcript variant 29 | NM_001410738.1:c.87= | NM_001410738.1:c.87T>A | NM_001410738.1:c.87T>C |
| CAMTA1 transcript variant X4 | XM_011541086.4:c.87= | XM_011541086.4:c.87T>A | XM_011541086.4:c.87T>C |
| CAMTA1 transcript variant X3 | XM_011541086.3:c.87= | XM_011541086.3:c.87T>A | XM_011541086.3:c.87T>C |
| CAMTA1 transcript variant X5 | XM_011541086.2:c.87= | XM_011541086.2:c.87T>A | XM_011541086.2:c.87T>C |
| CAMTA1 transcript variant X4 | XM_011541086.1:c.87= | XM_011541086.1:c.87T>A | XM_011541086.1:c.87T>C |
| CAMTA1 transcript variant X13 | XM_011541090.4:c.87= | XM_011541090.4:c.87T>A | XM_011541090.4:c.87T>C |
| CAMTA1 transcript variant X7 | XM_011541090.3:c.87= | XM_011541090.3:c.87T>A | XM_011541090.3:c.87T>C |
| CAMTA1 transcript variant X12 | XM_011541090.2:c.87= | XM_011541090.2:c.87T>A | XM_011541090.2:c.87T>C |
| CAMTA1 transcript variant X8 | XM_011541090.1:c.87= | XM_011541090.1:c.87T>A | XM_011541090.1:c.87T>C |
| CAMTA1 transcript variant X17 | XM_011541092.4:c.87= | XM_011541092.4:c.87T>A | XM_011541092.4:c.87T>C |
| CAMTA1 transcript variant X11 | XM_011541092.3:c.87= | XM_011541092.3:c.87T>A | XM_011541092.3:c.87T>C |
| CAMTA1 transcript variant X17 | XM_011541092.2:c.87= | XM_011541092.2:c.87T>A | XM_011541092.2:c.87T>C |
| CAMTA1 transcript variant X10 | XM_011541092.1:c.87= | XM_011541092.1:c.87T>A | XM_011541092.1:c.87T>C |
| CAMTA1 transcript variant X2 | XM_011541084.3:c.87= | XM_011541084.3:c.87T>A | XM_011541084.3:c.87T>C |
| CAMTA1 transcript variant X2 | XM_011541084.2:c.87= | XM_011541084.2:c.87T>A | XM_011541084.2:c.87T>C |
| CAMTA1 transcript variant X2 | XM_011541084.1:c.87= | XM_011541084.1:c.87T>A | XM_011541084.1:c.87T>C |
| CAMTA1 transcript variant X1 | XM_011541083.3:c.87= | XM_011541083.3:c.87T>A | XM_011541083.3:c.87T>C |
| CAMTA1 transcript variant X1 | XM_011541083.2:c.87= | XM_011541083.2:c.87T>A | XM_011541083.2:c.87T>C |
| CAMTA1 transcript variant X1 | XM_011541083.1:c.87= | XM_011541083.1:c.87T>A | XM_011541083.1:c.87T>C |
| CAMTA1 transcript variant X6 | XM_011541087.3:c.87= | XM_011541087.3:c.87T>A | XM_011541087.3:c.87T>C |
| CAMTA1 transcript variant X5 | XM_011541087.2:c.87= | XM_011541087.2:c.87T>A | XM_011541087.2:c.87T>C |
| CAMTA1 transcript variant X5 | XM_011541087.1:c.87= | XM_011541087.1:c.87T>A | XM_011541087.1:c.87T>C |
| CAMTA1 transcript variant X5 | XM_017000774.3:c.87= | XM_017000774.3:c.87T>A | XM_017000774.3:c.87T>C |
| CAMTA1 transcript variant X4 | XM_017000774.2:c.87= | XM_017000774.2:c.87T>A | XM_017000774.2:c.87T>C |
| CAMTA1 transcript variant X6 | XM_017000774.1:c.87= | XM_017000774.1:c.87T>A | XM_017000774.1:c.87T>C |
| CAMTA1 transcript variant X16 | XM_011541091.3:c.87= | XM_011541091.3:c.87T>A | XM_011541091.3:c.87T>C |
| CAMTA1 transcript variant X10 | XM_011541091.2:c.87= | XM_011541091.2:c.87T>A | XM_011541091.2:c.87T>C |
| CAMTA1 transcript variant X9 | XM_011541091.1:c.87= | XM_011541091.1:c.87T>A | XM_011541091.1:c.87T>C |
| CAMTA1 transcript variant X24 | XM_017000780.3:c.87= | XM_017000780.3:c.87T>A | XM_017000780.3:c.87T>C |
| CAMTA1 transcript variant X20 | XM_017000780.2:c.87= | XM_017000780.2:c.87T>A | XM_017000780.2:c.87T>C |
| CAMTA1 transcript variant X18 | XM_017000780.1:c.87= | XM_017000780.1:c.87T>A | XM_017000780.1:c.87T>C |
| CAMTA1 transcript variant X28 | XR_001737064.2:n.164= | XR_001737064.2:n.164T>A | XR_001737064.2:n.164T>C |
| CAMTA1 transcript variant X25 | XR_001737064.1:n.158= | XR_001737064.1:n.158T>A | XR_001737064.1:n.158T>C |
| CAMTA1 transcript variant X14 | XM_017000778.2:c.87= | XM_017000778.2:c.87T>A | XM_017000778.2:c.87T>C |
| CAMTA1 transcript variant X9 | XM_017000778.1:c.87= | XM_017000778.1:c.87T>A | XM_017000778.1:c.87T>C |
| CAMTA1 transcript variant X14 | XM_017000777.2:c.87= | XM_017000777.2:c.87T>A | XM_017000777.2:c.87T>C |
| CAMTA1 transcript variant X25 | XM_017000781.2:c.87= | XM_017000781.2:c.87T>A | XM_017000781.2:c.87T>C |
| CAMTA1 transcript variant X21 | XM_017000781.1:c.87= | XM_017000781.1:c.87T>A | XM_017000781.1:c.87T>C |
| CAMTA1 transcript variant X26 | XR_001737062.2:n.164= | XR_001737062.2:n.164T>A | XR_001737062.2:n.164T>C |
| CAMTA1 transcript variant X23 | XR_001737062.1:n.158= | XR_001737062.1:n.158T>A | XR_001737062.1:n.158T>C |
| CAMTA1 transcript variant X3 | XM_047415988.1:c.75= | XM_047415988.1:c.75T>A | XM_047415988.1:c.75T>C |
| CAMTA1 transcript variant X12 | XM_047416009.1:c.-232= | XM_047416009.1:c.-232T>A | XM_047416009.1:c.-232T>C |
| CAMTA1 transcript variant X9 | XM_047415997.1:c.87= | XM_047415997.1:c.87T>A | XM_047415997.1:c.87T>C |
| CAMTA1 transcript variant X16 | XM_047416020.1:c.87= | XM_047416020.1:c.87T>A | XM_047416020.1:c.87T>C |
| CAMTA1 transcript variant X7 | XM_047415993.1:c.87= | XM_047415993.1:c.87T>A | XM_047415993.1:c.87T>C |
| CAMTA1 transcript variant 24 | NM_001349628.1:c.87= | NM_001349628.1:c.87T>A | NM_001349628.1:c.87T>C |
| CAMTA1 transcript variant X27 | XR_007057950.1:n.164= | XR_007057950.1:n.164T>A | XR_007057950.1:n.164T>C |
| calmodulin-binding transcription activator 1 isoform a | NP_056030.1:p.Cys29= | NP_056030.1:p.Cys29Ter | NP_056030.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform f | NP_001336539.1:p.Cys29= | NP_001336539.1:p.Cys29Ter | NP_001336539.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform e | NP_001336538.1:p.Cys29= | NP_001336538.1:p.Cys29Ter | NP_001336538.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform c | NP_001229630.1:p.Cys29= | NP_001229630.1:p.Cys29Ter | NP_001229630.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform b | NP_001182492.1:p.Cys29= | NP_001182492.1:p.Cys29Ter | NP_001182492.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X4 | XP_011539388.1:p.Cys29= | XP_011539388.1:p.Cys29Ter | XP_011539388.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X13 | XP_011539392.1:p.Cys29= | XP_011539392.1:p.Cys29Ter | XP_011539392.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X17 | XP_011539394.1:p.Cys29= | XP_011539394.1:p.Cys29Ter | XP_011539394.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X2 | XP_011539386.1:p.Cys29= | XP_011539386.1:p.Cys29Ter | XP_011539386.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X1 | XP_011539385.1:p.Cys29= | XP_011539385.1:p.Cys29Ter | XP_011539385.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X6 | XP_011539389.1:p.Cys29= | XP_011539389.1:p.Cys29Ter | XP_011539389.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X5 | XP_016856263.1:p.Cys29= | XP_016856263.1:p.Cys29Ter | XP_016856263.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X16 | XP_011539393.1:p.Cys29= | XP_011539393.1:p.Cys29Ter | XP_011539393.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X22 | XP_016856269.1:p.Cys29= | XP_016856269.1:p.Cys29Ter | XP_016856269.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X14 | XP_016856267.1:p.Cys29= | XP_016856267.1:p.Cys29Ter | XP_016856267.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X14 | XP_016856266.1:p.Cys29= | XP_016856266.1:p.Cys29Ter | XP_016856266.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X23 | XP_016856270.1:p.Cys29= | XP_016856270.1:p.Cys29Ter | XP_016856270.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X3 | XP_047271944.1:p.Cys25= | XP_047271944.1:p.Cys25Ter | XP_047271944.1:p.Cys25= |
| calmodulin-binding transcription activator 1 isoform X9 | XP_047271953.1:p.Cys29= | XP_047271953.1:p.Cys29Ter | XP_047271953.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X16 | XP_047271976.1:p.Cys29= | XP_047271976.1:p.Cys29Ter | XP_047271976.1:p.Cys29= |
| calmodulin-binding transcription activator 1 isoform X7 | XP_047271949.1:p.Cys29= | XP_047271949.1:p.Cys29Ter | XP_047271949.1:p.Cys29= |
| CAMTA1 transcript variant 5 | NM_001349608.2:c.26-4870= | NM_001349608.2:c.26-4870T>A | NM_001349608.2:c.26-4870T>C |
| CAMTA1 transcript variant 8 | NM_001349612.2:c.26-4870= | NM_001349612.2:c.26-4870T>A | NM_001349612.2:c.26-4870T>C |
| CAMTA1 transcript variant 23 | NM_001349627.2:c.152-4870= | NM_001349627.2:c.152-4870T>A | NM_001349627.2:c.152-4870T>C |
| CAMTA1 transcript variant X8 | XM_011541088.3:c.26-4870= | XM_011541088.3:c.26-4870T>A | XM_011541088.3:c.26-4870T>C |
| CAMTA1 transcript variant X10 | XM_047415999.1:c.26-4870= | XM_047415999.1:c.26-4870T>A | XM_047415999.1:c.26-4870T>C |
| CAMTA1 transcript variant X11 | XM_047416005.1:c.26-4870= | XM_047416005.1:c.26-4870T>A | XM_047416005.1:c.26-4870T>C |
| CAMTA1 transcript variant X15 | XM_047416024.1:c.26-4870= | XM_047416024.1:c.26-4870T>A | XM_047416024.1:c.26-4870T>C |
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#.
2 SubSNP,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2731080296 | Nov 08, 2017 (151) |
| 2 | TOPMED | ss4438119060 | Apr 25, 2021 (155) |
| 3 | gnomAD - Exomes | NC_000001.10 - 6880282 | Jul 12, 2019 (153) |
| 4 | TopMed | NC_000001.11 - 6820222 | Apr 25, 2021 (155) |
| 5 | ALFA | NC_000001.11 - 6820222 | Apr 25, 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).
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 rs1323024662
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.
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.