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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.

rs1454377365

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:7663419 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CAMTA1 : 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").

None
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.7663419A>G
GRCh37.p13 chr 1 NC_000001.10:g.7723479A>G
CAMTA1 RefSeqGene NG_053148.1:g.883096A>G
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.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform a NP_056030.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant 7 NM_001349610.2:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform f NP_001336539.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant 6 NM_001349609.2:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform e NP_001336538.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant 8 NM_001349612.2:c.782A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform g NP_001336541.1:p.Glu261Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant 5 NM_001349608.2:c.782A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform d NP_001336537.1:p.Glu261Gly E (Glu) > G (Gly) Missense 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.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X1 XP_011539385.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X2 XM_011541084.3:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X2 XP_011539386.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X3 XM_047415988.1:c.860A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X3 XP_047271944.1:p.Glu287Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X4 XM_011541086.4:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X4 XP_011539388.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X5 XM_017000774.3:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X5 XP_016856263.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X6 XM_011541087.3:c.800A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X6 XP_011539389.1:p.Glu267Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X7 XM_047415993.1:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X7 XP_047271949.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X8 XM_011541088.3:c.782A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X8 XP_011539390.1:p.Glu261Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X9 XM_047415997.1:c.800A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X9 XP_047271953.1:p.Glu267Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X10 XM_047415999.1:c.782A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X10 XP_047271955.1:p.Glu261Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X11 XM_047416005.1:c.710A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X11 XP_047271961.1:p.Glu237Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X12 XM_047416009.1:c.554A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X12 XP_047271965.1:p.Glu185Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X13 XM_011541090.4:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X13 XP_011539392.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X14 XM_017000777.2:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856266.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X14 XM_017000778.2:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856267.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X16 XM_047416020.1:c.800A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_047271976.1:p.Glu267Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X15 XM_047416024.1:c.710A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X15 XP_047271980.1:p.Glu237Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X16 XM_011541091.3:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_011539393.1:p.Glu291Gly E (Glu) > G (Gly) Missense Variant
CAMTA1 transcript variant X17 XM_011541092.4:c.872A>G E [GAG] > G [GGG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X17 XP_011539394.1:p.Glu291Gly E (Glu) > G (Gly) Missense 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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.7663419= NC_000001.11:g.7663419A>G
GRCh37.p13 chr 1 NC_000001.10:g.7723479= NC_000001.10:g.7723479A>G
CAMTA1 RefSeqGene NG_053148.1:g.883096= NG_053148.1:g.883096A>G
CAMTA1 transcript variant 1 NM_015215.4:c.872= NM_015215.4:c.872A>G
CAMTA1 transcript variant 1 NM_015215.3:c.872= NM_015215.3:c.872A>G
CAMTA1 transcript variant 1 NM_015215.2:c.872= NM_015215.2:c.872A>G
CAMTA1 transcript variant 5 NM_001349608.2:c.782= NM_001349608.2:c.782A>G
CAMTA1 transcript variant 5 NM_001349608.1:c.782= NM_001349608.1:c.782A>G
CAMTA1 transcript variant 7 NM_001349610.2:c.872= NM_001349610.2:c.872A>G
CAMTA1 transcript variant 7 NM_001349610.1:c.872= NM_001349610.1:c.872A>G
CAMTA1 transcript variant 6 NM_001349609.2:c.872= NM_001349609.2:c.872A>G
CAMTA1 transcript variant 6 NM_001349609.1:c.872= NM_001349609.1:c.872A>G
CAMTA1 transcript variant 8 NM_001349612.2:c.782= NM_001349612.2:c.782A>G
CAMTA1 transcript variant 8 NM_001349612.1:c.782= NM_001349612.1:c.782A>G
CAMTA1 transcript variant 28 NM_001410737.1:c.872= NM_001410737.1:c.872A>G
CAMTA1 transcript variant 29 NM_001410738.1:c.800= NM_001410738.1:c.800A>G
CAMTA1 transcript variant X4 XM_011541086.4:c.872= XM_011541086.4:c.872A>G
CAMTA1 transcript variant X3 XM_011541086.3:c.872= XM_011541086.3:c.872A>G
CAMTA1 transcript variant X5 XM_011541086.2:c.872= XM_011541086.2:c.872A>G
CAMTA1 transcript variant X4 XM_011541086.1:c.872= XM_011541086.1:c.872A>G
CAMTA1 transcript variant X13 XM_011541090.4:c.872= XM_011541090.4:c.872A>G
CAMTA1 transcript variant X7 XM_011541090.3:c.872= XM_011541090.3:c.872A>G
CAMTA1 transcript variant X12 XM_011541090.2:c.872= XM_011541090.2:c.872A>G
CAMTA1 transcript variant X8 XM_011541090.1:c.872= XM_011541090.1:c.872A>G
CAMTA1 transcript variant X17 XM_011541092.4:c.872= XM_011541092.4:c.872A>G
CAMTA1 transcript variant X11 XM_011541092.3:c.872= XM_011541092.3:c.872A>G
CAMTA1 transcript variant X17 XM_011541092.2:c.872= XM_011541092.2:c.872A>G
CAMTA1 transcript variant X10 XM_011541092.1:c.872= XM_011541092.1:c.872A>G
CAMTA1 transcript variant X2 XM_011541084.3:c.872= XM_011541084.3:c.872A>G
CAMTA1 transcript variant X2 XM_011541084.2:c.872= XM_011541084.2:c.872A>G
CAMTA1 transcript variant X2 XM_011541084.1:c.872= XM_011541084.1:c.872A>G
CAMTA1 transcript variant X1 XM_011541083.3:c.872= XM_011541083.3:c.872A>G
CAMTA1 transcript variant X1 XM_011541083.2:c.872= XM_011541083.2:c.872A>G
CAMTA1 transcript variant X1 XM_011541083.1:c.872= XM_011541083.1:c.872A>G
CAMTA1 transcript variant X8 XM_011541088.3:c.782= XM_011541088.3:c.782A>G
CAMTA1 transcript variant X6 XM_011541088.2:c.782= XM_011541088.2:c.782A>G
CAMTA1 transcript variant X6 XM_011541088.1:c.782= XM_011541088.1:c.782A>G
CAMTA1 transcript variant X6 XM_011541087.3:c.800= XM_011541087.3:c.800A>G
CAMTA1 transcript variant X5 XM_011541087.2:c.800= XM_011541087.2:c.800A>G
CAMTA1 transcript variant X5 XM_011541087.1:c.800= XM_011541087.1:c.800A>G
CAMTA1 transcript variant X5 XM_017000774.3:c.872= XM_017000774.3:c.872A>G
CAMTA1 transcript variant X4 XM_017000774.2:c.872= XM_017000774.2:c.872A>G
CAMTA1 transcript variant X6 XM_017000774.1:c.872= XM_017000774.1:c.872A>G
CAMTA1 transcript variant X16 XM_011541091.3:c.872= XM_011541091.3:c.872A>G
CAMTA1 transcript variant X10 XM_011541091.2:c.872= XM_011541091.2:c.872A>G
CAMTA1 transcript variant X9 XM_011541091.1:c.872= XM_011541091.1:c.872A>G
CAMTA1 transcript variant X14 XM_017000778.2:c.872= XM_017000778.2:c.872A>G
CAMTA1 transcript variant X9 XM_017000778.1:c.872= XM_017000778.1:c.872A>G
CAMTA1 transcript variant X14 XM_017000777.2:c.872= XM_017000777.2:c.872A>G
CAMTA1 transcript variant X3 XM_047415988.1:c.860= XM_047415988.1:c.860A>G
CAMTA1 transcript variant X12 XM_047416009.1:c.554= XM_047416009.1:c.554A>G
CAMTA1 transcript variant X10 XM_047415999.1:c.782= XM_047415999.1:c.782A>G
CAMTA1 transcript variant X9 XM_047415997.1:c.800= XM_047415997.1:c.800A>G
CAMTA1 transcript variant X11 XM_047416005.1:c.710= XM_047416005.1:c.710A>G
CAMTA1 transcript variant X16 XM_047416020.1:c.800= XM_047416020.1:c.800A>G
CAMTA1 transcript variant X15 XM_047416024.1:c.710= XM_047416024.1:c.710A>G
CAMTA1 transcript variant X7 XM_047415993.1:c.872= XM_047415993.1:c.872A>G
calmodulin-binding transcription activator 1 isoform a NP_056030.1:p.Glu291= NP_056030.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform d NP_001336537.1:p.Glu261= NP_001336537.1:p.Glu261Gly
calmodulin-binding transcription activator 1 isoform f NP_001336539.1:p.Glu291= NP_001336539.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform e NP_001336538.1:p.Glu291= NP_001336538.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform g NP_001336541.1:p.Glu261= NP_001336541.1:p.Glu261Gly
calmodulin-binding transcription activator 1 isoform X4 XP_011539388.1:p.Glu291= XP_011539388.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X13 XP_011539392.1:p.Glu291= XP_011539392.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X17 XP_011539394.1:p.Glu291= XP_011539394.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X2 XP_011539386.1:p.Glu291= XP_011539386.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X1 XP_011539385.1:p.Glu291= XP_011539385.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X8 XP_011539390.1:p.Glu261= XP_011539390.1:p.Glu261Gly
calmodulin-binding transcription activator 1 isoform X6 XP_011539389.1:p.Glu267= XP_011539389.1:p.Glu267Gly
calmodulin-binding transcription activator 1 isoform X5 XP_016856263.1:p.Glu291= XP_016856263.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X16 XP_011539393.1:p.Glu291= XP_011539393.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X14 XP_016856267.1:p.Glu291= XP_016856267.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X14 XP_016856266.1:p.Glu291= XP_016856266.1:p.Glu291Gly
calmodulin-binding transcription activator 1 isoform X3 XP_047271944.1:p.Glu287= XP_047271944.1:p.Glu287Gly
calmodulin-binding transcription activator 1 isoform X12 XP_047271965.1:p.Glu185= XP_047271965.1:p.Glu185Gly
calmodulin-binding transcription activator 1 isoform X10 XP_047271955.1:p.Glu261= XP_047271955.1:p.Glu261Gly
calmodulin-binding transcription activator 1 isoform X9 XP_047271953.1:p.Glu267= XP_047271953.1:p.Glu267Gly
calmodulin-binding transcription activator 1 isoform X11 XP_047271961.1:p.Glu237= XP_047271961.1:p.Glu237Gly
calmodulin-binding transcription activator 1 isoform X16 XP_047271976.1:p.Glu267= XP_047271976.1:p.Glu267Gly
calmodulin-binding transcription activator 1 isoform X15 XP_047271980.1:p.Glu237= XP_047271980.1:p.Glu237Gly
calmodulin-binding transcription activator 1 isoform X7 XP_047271949.1:p.Glu291= XP_047271949.1:p.Glu291Gly
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#.

1 SubSNP submission
No Submitter Submission ID Date (Build)
1 GNOMAD ss2731080720 Nov 08, 2017 (151)
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
ss2731080720 NC_000001.10:7723478:A:G NC_000001.11:7663418:A:G (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 rs1454377365

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