Product Details

SNP ID
rs114196732
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:237325687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATAGTACCATTTTAATATGAAATC[C/T]CTGCAAGTTCCTTCGTCTTTCGGCA
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 7830 Silent Mutation AGA,AGG R3122R NP_004360.2
NM_057164.4 7830 Intron NP_476505.3
NM_057165.4 7830 Intron NP_476506.3
NM_057166.4 7830 Silent Mutation AGA,AGG R2515R NP_476507.3
NM_057167.3 7830 Silent Mutation AGA,AGG R2916R NP_476508.2
XM_005246065.1 7830 Silent Mutation AGA,AGG R2922R XP_005246122.1
XM_005246066.1 7830 Silent Mutation AGA,AGG R2715R XP_005246123.1
XM_006712253.1 7830 Silent Mutation AGA,AGG R2955R XP_006712316.1
XM_011510574.1 7830 Silent Mutation AGA,AGG R3121R XP_011508876.1
XM_017003303.1 7830 Silent Mutation AGA,AGG R2916R XP_016858792.1
XM_017003304.1 7830 Silent Mutation AGA,AGG R2320R XP_016858793.1

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