Product Details

SNP ID
rs145340337
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:130520748 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGAAAAATCTCGGGACAAGATAA[A/G]GGAGGCAGTATCATCTTTGTGTCTC
Phenotype
MIM: 616613
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
COL6A6 PubMed Links

Gene Details

Gene
COL6A6
Gene Name
collagen type VI alpha 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001102608.1 1962 Intron NP_001096078.1
XM_005247121.4 1962 Intron XP_005247178.1
XM_011512423.2 1962 Intron XP_011510725.1
XM_011512424.2 1962 Intron XP_011510726.1
XM_011512425.2 1962 Intron XP_011510727.1
XM_011512426.2 1962 Intron XP_011510728.1
XM_011512428.2 1962 Intron XP_011510730.1
XM_011512431.2 1962 Intron XP_011510733.1
XM_011512432.2 1962 Intron XP_011510734.1
XM_017005711.1 1962 Intron XP_016861200.1
XM_017005712.1 1962 Intron XP_016861201.1
XM_017005713.1 1962 Intron XP_016861202.1
XM_017005714.1 1962 UTR 5 XP_016861203.1
XM_017005715.1 1962 Intron XP_016861204.1
XM_017005716.1 1962 Intron XP_016861205.1

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