Product Details

SNP ID
rs141050617
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:237325695 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTTAATATGAAATCCCTGCAAG[G/T]TCCTTCGTCTTTCGGCAACTTGCAT
Phenotype
MIM: 120250
Polymorphism
G/T, Transversion 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 7822 Missense Mutation ACT,CCT T3120P NP_004360.2
NM_057164.4 7822 Intron NP_476505.3
NM_057165.4 7822 Intron NP_476506.3
NM_057166.4 7822 Missense Mutation ACT,CCT T2513P NP_476507.3
NM_057167.3 7822 Missense Mutation ACT,CCT T2914P NP_476508.2
XM_005246065.1 7822 Missense Mutation ACT,CCT T2920P XP_005246122.1
XM_005246066.1 7822 Missense Mutation ACT,CCT T2713P XP_005246123.1
XM_006712253.1 7822 Missense Mutation ACT,CCT T2953P XP_006712316.1
XM_011510574.1 7822 Missense Mutation ACT,CCT T3119P XP_011508876.1
XM_017003303.1 7822 Missense Mutation ACT,CCT T2914P XP_016858792.1
XM_017003304.1 7822 Missense Mutation ACT,CCT T2318P XP_016858793.1

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