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dbSNP Short Genetic Variations

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.

rs121913403

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr3:41224622 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
CTNNB1 : Missense Variant
Publications
11 citations
Genomic View
See rs on genome
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.p12 chr 3 NC_000003.12:g.41224622C>A
GRCh38.p12 chr 3 NC_000003.12:g.41224622C>G
GRCh38.p12 chr 3 NC_000003.12:g.41224622C>T
GRCh37.p13 chr 3 NC_000003.11:g.41266113C>A
GRCh37.p13 chr 3 NC_000003.11:g.41266113C>G
GRCh37.p13 chr 3 NC_000003.11:g.41266113C>T
CTNNB1 RefSeqGene NG_013302.2:g.30172C>A
CTNNB1 RefSeqGene NG_013302.2:g.30172C>G
CTNNB1 RefSeqGene NG_013302.2:g.30172C>T
Gene: CTNNB1, catenin beta 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CTNNB1 transcript variant 1 NM_001904.4:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001895.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant 1 NM_001904.4:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001895.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant 1 NM_001904.4:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001895.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant 2 NM_001098209.2:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001091679.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant 2 NM_001098209.2:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001091679.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant 2 NM_001098209.2:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001091679.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant 3 NM_001098210.2:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001091680.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant 3 NM_001098210.2:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001091680.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant 3 NM_001098210.2:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform 1 NP_001091680.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant 4 NM_001330729.2:c.89C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform 2 NP_001317658.1:p.Ser30Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant 4 NM_001330729.2:c.89C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform 2 NP_001317658.1:p.Ser30Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant 4 NM_001330729.2:c.89C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform 2 NP_001317658.1:p.Ser30Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X8 XM_006712985.1:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X3 XP_006713048.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X8 XM_006712985.1:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X3 XP_006713048.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X8 XM_006712985.1:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X3 XP_006713048.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X3 XM_017005738.1:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_016861227.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X3 XM_017005738.1:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_016861227.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X3 XM_017005738.1:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_016861227.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X1 XM_024453356.1:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309124.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X1 XM_024453356.1:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309124.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X1 XM_024453356.1:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309124.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X2 XM_024453357.1:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309125.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X2 XM_024453357.1:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309125.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X2 XM_024453357.1:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309125.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X4 XM_024453358.1:c.110C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309126.1:p.Ser37Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X4 XM_024453358.1:c.110C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309126.1:p.Ser37Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X4 XM_024453358.1:c.110C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X1 XP_024309126.1:p.Ser37Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X5 XM_006712983.2:c.89C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_006713046.1:p.Ser30Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X5 XM_006712983.2:c.89C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_006713046.1:p.Ser30Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X5 XM_006712983.2:c.89C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_006713046.1:p.Ser30Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X6 XM_024453359.1:c.89C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_024309127.1:p.Ser30Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X6 XM_024453359.1:c.89C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_024309127.1:p.Ser30Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X6 XM_024453359.1:c.89C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_024309127.1:p.Ser30Phe S (Ser) > F (Phe) Missense Variant
CTNNB1 transcript variant X7 XM_024453360.1:c.89C>A S [TCT] > Y [TAT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_024309128.1:p.Ser30Tyr S (Ser) > Y (Tyr) Missense Variant
CTNNB1 transcript variant X7 XM_024453360.1:c.89C>G S [TCT] > C [TGT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_024309128.1:p.Ser30Cys S (Ser) > C (Cys) Missense Variant
CTNNB1 transcript variant X7 XM_024453360.1:c.89C>T S [TCT] > F [TTT] Coding Sequence Variant
catenin beta-1 isoform X2 XP_024309128.1:p.Ser30Phe S (Ser) > F (Phe) 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.

Allele: A (allele ID: 362773 )
ClinVar Accession Disease Names Clinical Significance
RCV000419361.1 Cutaneous melanoma Pathogenic
RCV000420492.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000420998.1 Medulloblastoma Likely-Pathogenic
RCV000421620.1 Hepatocellular carcinoma Likely-Pathogenic
RCV000429634.1 Uterine cervical neoplasms Likely-Pathogenic
RCV000430785.1 Neoplasm of stomach Likely-Pathogenic
RCV000431858.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000432982.1 Lung adenocarcinoma Likely-Pathogenic
RCV000438660.1 Transitional cell carcinoma of the bladder Likely-Pathogenic
RCV000441059.1 Adenocarcinoma of prostate Likely-Pathogenic
RCV000441660.1 Carcinoma of esophagus Likely-Pathogenic
Allele: G (allele ID: 32618 )
ClinVar Accession Disease Names Clinical Significance
RCV000019141.5 Neoplasm of ovary Pathogenic
RCV000030945.4 Pilomatrixoma Pathogenic
RCV000087195.2 not provided Likely-Pathogenic
RCV000421574.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000422240.1 Carcinoma of esophagus Likely-Pathogenic
RCV000423597.1 Hepatocellular carcinoma Likely-Pathogenic
RCV000430788.1 Uterine cervical neoplasms Likely-Pathogenic
RCV000431366.1 Medulloblastoma Likely-Pathogenic
RCV000432924.1 Lung adenocarcinoma Likely-Pathogenic
RCV000438791.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000441696.1 Adenocarcinoma of prostate Likely-Pathogenic
RCV000444056.1 Ovarian Neoplasms Likely-Pathogenic
RCV000445258.1 Transitional cell carcinoma of the bladder Likely-Pathogenic
Allele: T (allele ID: 32625 )
ClinVar Accession Disease Names Clinical Significance
RCV000019151.5 Pilomatrixoma Pathogenic
RCV000420061.1 Ovarian Neoplasms Likely-Pathogenic
RCV000425340.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000426489.1 Hepatocellular carcinoma Likely-Pathogenic
RCV000427490.1 Uterine cervical neoplasms Likely-Pathogenic
RCV000428583.1 Medulloblastoma Likely-Pathogenic
RCV000433883.1 Adenocarcinoma of prostate Likely-Pathogenic
RCV000436738.1 Carcinoma of esophagus Likely-Pathogenic
RCV000437726.1 Transitional cell carcinoma of the bladder Likely-Pathogenic
RCV000442576.1 Cutaneous melanoma Pathogenic
RCV000444520.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000445320.1 Lung adenocarcinoma Likely-Pathogenic
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

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 G T Note
GRCh38.p12 chr 3 NC_000003.12:...

NC_000003.12:g.41224622=

NC_000003.12:...

NC_000003.12:g.41224622C>A

NC_000003.12:...

NC_000003.12:g.41224622C>G

NC_000003.12:...

NC_000003.12:g.41224622C>T

GRCh37.p13 chr 3 NC_000003.11:...

NC_000003.11:g.41266113=

NC_000003.11:...

NC_000003.11:g.41266113C>A

NC_000003.11:...

NC_000003.11:g.41266113C>G

NC_000003.11:...

NC_000003.11:g.41266113C>T

CTNNB1 RefSeqGene NG_013302.2:g...

NG_013302.2:g.30172=

NG_013302.2:g...

NG_013302.2:g.30172C>A

NG_013302.2:g...

NG_013302.2:g.30172C>G

NG_013302.2:g...

NG_013302.2:g.30172C>T

CTNNB1 transcript variant 1 NM_001904.4:c...

NM_001904.4:c.110=

NM_001904.4:c...

NM_001904.4:c.110C>A

NM_001904.4:c...

NM_001904.4:c.110C>G

NM_001904.4:c...

NM_001904.4:c.110C>T

CTNNB1 transcript variant 1 NM_001904.3:c...

NM_001904.3:c.110=

NM_001904.3:c...

NM_001904.3:c.110C>A

NM_001904.3:c...

NM_001904.3:c.110C>G

NM_001904.3:c...

NM_001904.3:c.110C>T

CTNNB1 transcript variant 4 NM_001330729....

NM_001330729.2:c.89=

NM_001330729....

NM_001330729.2:c.89C>A

NM_001330729....

NM_001330729.2:c.89C>G

NM_001330729....

NM_001330729.2:c.89C>T

CTNNB1 transcript variant 4 NM_001330729....

NM_001330729.1:c.89=

NM_001330729....

NM_001330729.1:c.89C>A

NM_001330729....

NM_001330729.1:c.89C>G

NM_001330729....

NM_001330729.1:c.89C>T

CTNNB1 transcript variant 2 NM_001098209....

NM_001098209.2:c.110=

NM_001098209....

NM_001098209.2:c.110C>A

NM_001098209....

NM_001098209.2:c.110C>G

NM_001098209....

NM_001098209.2:c.110C>T

CTNNB1 transcript variant 2 NM_001098209....

NM_001098209.1:c.110=

NM_001098209....

NM_001098209.1:c.110C>A

NM_001098209....

NM_001098209.1:c.110C>G

NM_001098209....

NM_001098209.1:c.110C>T

CTNNB1 transcript variant 3 NM_001098210....

NM_001098210.2:c.110=

NM_001098210....

NM_001098210.2:c.110C>A

NM_001098210....

NM_001098210.2:c.110C>G

NM_001098210....

NM_001098210.2:c.110C>T

CTNNB1 transcript variant 3 NM_001098210....

NM_001098210.1:c.110=

NM_001098210....

NM_001098210.1:c.110C>A

NM_001098210....

NM_001098210.1:c.110C>G

NM_001098210....

NM_001098210.1:c.110C>T

CTNNB1 transcript variant X5 XM_006712983....

XM_006712983.2:c.89=

XM_006712983....

XM_006712983.2:c.89C>A

XM_006712983....

XM_006712983.2:c.89C>G

XM_006712983....

XM_006712983.2:c.89C>T

CTNNB1 transcript variant X6 XM_024453359....

XM_024453359.1:c.89=

XM_024453359....

XM_024453359.1:c.89C>A

XM_024453359....

XM_024453359.1:c.89C>G

XM_024453359....

XM_024453359.1:c.89C>T

CTNNB1 transcript variant X1 XM_024453356....

XM_024453356.1:c.110=

XM_024453356....

XM_024453356.1:c.110C>A

XM_024453356....

XM_024453356.1:c.110C>G

XM_024453356....

XM_024453356.1:c.110C>T

CTNNB1 transcript variant X7 XM_024453360....

XM_024453360.1:c.89=

XM_024453360....

XM_024453360.1:c.89C>A

XM_024453360....

XM_024453360.1:c.89C>G

XM_024453360....

XM_024453360.1:c.89C>T

CTNNB1 transcript variant X2 XM_024453357....

XM_024453357.1:c.110=

XM_024453357....

XM_024453357.1:c.110C>A

XM_024453357....

XM_024453357.1:c.110C>G

XM_024453357....

XM_024453357.1:c.110C>T

CTNNB1 transcript variant X3 XM_017005738....

XM_017005738.1:c.110=

XM_017005738....

XM_017005738.1:c.110C>A

XM_017005738....

XM_017005738.1:c.110C>G

XM_017005738....

XM_017005738.1:c.110C>T

CTNNB1 transcript variant X4 XM_024453358....

XM_024453358.1:c.110=

XM_024453358....

XM_024453358.1:c.110C>A

XM_024453358....

XM_024453358.1:c.110C>G

XM_024453358....

XM_024453358.1:c.110C>T

CTNNB1 transcript variant X8 XM_006712985....

XM_006712985.1:c.110=

XM_006712985....

XM_006712985.1:c.110C>A

XM_006712985....

XM_006712985.1:c.110C>G

XM_006712985....

XM_006712985.1:c.110C>T

catenin beta-1 isoform 1 NP_001895.1:p...

NP_001895.1:p.Ser37=

NP_001895.1:p...

NP_001895.1:p.Ser37Tyr

NP_001895.1:p...

NP_001895.1:p.Ser37Cys

NP_001895.1:p...

NP_001895.1:p.Ser37Phe

catenin beta-1 isoform 2 NP_001317658....

NP_001317658.1:p.Ser30=

NP_001317658....

NP_001317658.1:p.Ser30Tyr

NP_001317658....

NP_001317658.1:p.Ser30Cys

NP_001317658....

NP_001317658.1:p.Ser30Phe

catenin beta-1 isoform 1 NP_001091679....

NP_001091679.1:p.Ser37=

NP_001091679....

NP_001091679.1:p.Ser37Tyr

NP_001091679....

NP_001091679.1:p.Ser37Cys

NP_001091679....

NP_001091679.1:p.Ser37Phe

catenin beta-1 isoform 1 NP_001091680....

NP_001091680.1:p.Ser37=

NP_001091680....

NP_001091680.1:p.Ser37Tyr

NP_001091680....

NP_001091680.1:p.Ser37Cys

NP_001091680....

NP_001091680.1:p.Ser37Phe

catenin beta-1 isoform X2 XP_006713046....

XP_006713046.1:p.Ser30=

XP_006713046....

XP_006713046.1:p.Ser30Tyr

XP_006713046....

XP_006713046.1:p.Ser30Cys

XP_006713046....

XP_006713046.1:p.Ser30Phe

catenin beta-1 isoform X2 XP_024309127....

XP_024309127.1:p.Ser30=

XP_024309127....

XP_024309127.1:p.Ser30Tyr

XP_024309127....

XP_024309127.1:p.Ser30Cys

XP_024309127....

XP_024309127.1:p.Ser30Phe

catenin beta-1 isoform X1 XP_024309124....

XP_024309124.1:p.Ser37=

XP_024309124....

XP_024309124.1:p.Ser37Tyr

XP_024309124....

XP_024309124.1:p.Ser37Cys

XP_024309124....

XP_024309124.1:p.Ser37Phe

catenin beta-1 isoform X2 XP_024309128....

XP_024309128.1:p.Ser30=

XP_024309128....

XP_024309128.1:p.Ser30Tyr

XP_024309128....

XP_024309128.1:p.Ser30Cys

XP_024309128....

XP_024309128.1:p.Ser30Phe

catenin beta-1 isoform X1 XP_024309125....

XP_024309125.1:p.Ser37=

XP_024309125....

XP_024309125.1:p.Ser37Tyr

XP_024309125....

XP_024309125.1:p.Ser37Cys

XP_024309125....

XP_024309125.1:p.Ser37Phe

catenin beta-1 isoform X1 XP_016861227....

XP_016861227.1:p.Ser37=

XP_016861227....

XP_016861227.1:p.Ser37Tyr

XP_016861227....

XP_016861227.1:p.Ser37Cys

XP_016861227....

XP_016861227.1:p.Ser37Phe

catenin beta-1 isoform X1 XP_024309126....

XP_024309126.1:p.Ser37=

XP_024309126....

XP_024309126.1:p.Ser37Tyr

XP_024309126....

XP_024309126.1:p.Ser37Cys

XP_024309126....

XP_024309126.1:p.Ser37Phe

catenin beta-1 isoform X3 XP_006713048....

XP_006713048.1:p.Ser37=

XP_006713048....

XP_006713048.1:p.Ser37Tyr

XP_006713048....

XP_006713048.1:p.Ser37Cys

XP_006713048....

XP_006713048.1:p.Ser37Phe

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#.

7 SubSNP, 36 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss275514037 Nov 22, 2010 (133)
2 OMIM-CURATED-RECORDS ss275514038 Nov 22, 2010 (133)
3 OMIM-CURATED-RECORDS ss275514040 Nov 22, 2010 (133)
4 DF-BWCC ss275515266 Nov 22, 2010 (133)
5 DF-BWCC ss275515267 Nov 22, 2010 (133)
6 DF-BWCC ss275515269 Nov 22, 2010 (133)
7 LIFTON_LAB_YALE_UNIV ss974768587 Apr 11, 2014 (141)
8 ClinVar RCV000019141.5 Oct 12, 2018 (152)
9 ClinVar RCV000019151.5 Oct 12, 2018 (152)
10 ClinVar RCV000030945.4 Oct 12, 2018 (152)
11 ClinVar RCV000087195.2 Oct 12, 2018 (152)
12 ClinVar RCV000419361.1 Oct 12, 2018 (152)
13 ClinVar RCV000420061.1 Oct 12, 2018 (152)
14 ClinVar RCV000420492.1 Oct 12, 2018 (152)
15 ClinVar RCV000420998.1 Oct 12, 2018 (152)
16 ClinVar RCV000421574.1 Oct 12, 2018 (152)
17 ClinVar RCV000421620.1 Oct 12, 2018 (152)
18 ClinVar RCV000422240.1 Oct 12, 2018 (152)
19 ClinVar RCV000423597.1 Oct 12, 2018 (152)
20 ClinVar RCV000425340.1 Oct 12, 2018 (152)
21 ClinVar RCV000426489.1 Oct 12, 2018 (152)
22 ClinVar RCV000427490.1 Oct 12, 2018 (152)
23 ClinVar RCV000428583.1 Oct 12, 2018 (152)
24 ClinVar RCV000429634.1 Oct 12, 2018 (152)
25 ClinVar RCV000430785.1 Oct 12, 2018 (152)
26 ClinVar RCV000430788.1 Oct 12, 2018 (152)
27 ClinVar RCV000431366.1 Oct 12, 2018 (152)
28 ClinVar RCV000431858.1 Oct 12, 2018 (152)
29 ClinVar RCV000432924.1 Oct 12, 2018 (152)
30 ClinVar RCV000432982.1 Oct 12, 2018 (152)
31 ClinVar RCV000433883.1 Oct 12, 2018 (152)
32 ClinVar RCV000436738.1 Oct 12, 2018 (152)
33 ClinVar RCV000437726.1 Oct 12, 2018 (152)
34 ClinVar RCV000438660.1 Oct 12, 2018 (152)
35 ClinVar RCV000438791.1 Oct 12, 2018 (152)
36 ClinVar RCV000441059.1 Oct 12, 2018 (152)
37 ClinVar RCV000441660.1 Oct 12, 2018 (152)
38 ClinVar RCV000441696.1 Oct 12, 2018 (152)
39 ClinVar RCV000442576.1 Oct 12, 2018 (152)
40 ClinVar RCV000444056.1 Oct 12, 2018 (152)
41 ClinVar RCV000444520.1 Oct 12, 2018 (152)
42 ClinVar RCV000445258.1 Oct 12, 2018 (152)
43 ClinVar RCV000445320.1 Oct 12, 2018 (152)
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).

Associated ID History Updated (Build)
rs121912783 May 05, 2011 (133)
rs121912784 May 05, 2011 (133)
rs121912786 May 05, 2011 (133)
rs121913404 May 05, 2011 (133)
rs121913406 May 05, 2011 (133)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV000419361.1, RCV000420492.1, RCV000420998.1, RCV000421620.1, RCV000429634.1, RCV000430785.1, RCV000431858.1, RCV000432982.1, RCV000438660.1, RCV000441059.1, RCV000441660.1, ss275515269 NC_000003.12:41224621:C:A NC_000003.12:41224621:C:A (self)
RCV000019141.5, RCV000030945.4, RCV000087195.2, RCV000421574.1, RCV000422240.1, RCV000423597.1, RCV000430788.1, RCV000431366.1, RCV000432924.1, RCV000438791.1, RCV000441696.1, RCV000444056.1, RCV000445258.1, ss275514037, ss275514040, ss275515266, ss974768587 NC_000003.12:41224621:C:G NC_000003.12:41224621:C:G (self)
RCV000019151.5, RCV000420061.1, RCV000425340.1, RCV000426489.1, RCV000427490.1, RCV000428583.1, RCV000433883.1, RCV000436738.1, RCV000437726.1, RCV000442576.1, RCV000444520.1, RCV000445320.1, ss275514038, ss275515267 NC_000003.12:41224621:C:T NC_000003.12:41224621:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

11 citations for rs121913403
PMID Title Author Year Journal
9065403 Stabilization of beta-catenin by genetic defects in melanoma cell lines. Rubinfeld B et al. 1997 Science (New York, N.Y.)
10027390 Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. Rimm DL et al. 1999 The American journal of pathology
10192393 A common human skin tumour is caused by activating mutations in beta-catenin. Chan EF et al. 1999 Nature genetics
10391090 Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas. Sagae S et al. 1999 Japanese journal of cancer research
11351304 Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. Omholt K et al. 2001 International journal of cancer
11930117 Mutations in exon 3 of the beta-catenin gene are rare in melanoma cell lines. Pollock PM et al. 2002 Melanoma research
11950921 Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. Demunter A et al. 2002 Modern pathology
12124804 Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. Reifenberger J et al. 2002 International journal of cancer
15133491 Genetic and epigenetic alterations of the APC gene in malignant melanoma. Worm J et al. 2004 Oncogene
25157968 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE et al. 2014 The Journal of molecular diagnostics
26619011 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT et al. 2016 Nature biotechnology

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.post246+3cda961