Product Details

SNP ID
rs138694883
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:237325608 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTCTGTGATCCAAATTTGTTTT[C/T]GTTTCCACCACAACCTCCATACCAG
Phenotype
MIM: 120250
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL6A3 PubMed Links

Gene Details

Gene
COL6A3
Gene Name
collagen type VI alpha 3 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004369.3 7909 Missense Mutation AAA,GAA K3149E NP_004360.2
NM_057164.4 7909 Intron NP_476505.3
NM_057165.4 7909 Intron NP_476506.3
NM_057166.4 7909 Missense Mutation AAA,GAA K2542E NP_476507.3
NM_057167.3 7909 Missense Mutation AAA,GAA K2943E NP_476508.2
XM_005246065.1 7909 Missense Mutation AAA,GAA K2949E XP_005246122.1
XM_005246066.1 7909 Missense Mutation AAA,GAA K2742E XP_005246123.1
XM_006712253.1 7909 Missense Mutation AAA,GAA K2982E XP_006712316.1
XM_011510574.1 7909 Missense Mutation AAA,GAA K3148E XP_011508876.1
XM_017003303.1 7909 Missense Mutation AAA,GAA K2943E XP_016858792.1
XM_017003304.1 7909 Missense Mutation AAA,GAA K2347E XP_016858793.1

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