Product Details

SNP ID
rs200025682
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46111983 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGGTCCTGTGCCCCACAGAGAA[A/G]ACCGACTGCCCCATCCACGTGTACT
Phenotype
MIM: 120240
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COL6A2 PubMed Links

Gene Details

Gene
COL6A2
Gene Name
collagen type VI alpha 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001849.3 493 Silent Mutation AAA,AAG K40K NP_001840.3
NM_058174.2 493 Silent Mutation AAA,AAG K40K NP_478054.2
NM_058175.2 493 Silent Mutation AAA,AAG K40K NP_478055.2
XM_011529451.1 493 Silent Mutation AAA,AAG K40K XP_011527753.1

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