Product Details

SNP ID
rs148183839
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:237324784 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGGCCACCCACGCTTAGGTTCCC[A/G]TCACACTGATGACTCCGGGTTTGGC
Phenotype
MIM: 120250
Polymorphism
A/G, 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 7988 Missense Mutation ACG,ATG T3175M NP_004360.2
NM_057164.4 7988 Intron NP_476505.3
NM_057165.4 7988 Intron NP_476506.3
NM_057166.4 7988 Missense Mutation ACG,ATG T2568M NP_476507.3
NM_057167.3 7988 Missense Mutation ACG,ATG T2969M NP_476508.2
XM_005246065.1 7988 Missense Mutation ACG,ATG T2975M XP_005246122.1
XM_005246066.1 7988 Missense Mutation ACG,ATG T2768M XP_005246123.1
XM_006712253.1 7988 Missense Mutation ACG,ATG T3008M XP_006712316.1
XM_011510574.1 7988 Missense Mutation ACG,ATG T3174M XP_011508876.1
XM_017003303.1 7988 Missense Mutation ACG,ATG T2969M XP_016858792.1
XM_017003304.1 7988 Missense Mutation ACG,ATG T2373M XP_016858793.1

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