Product Details

SNP ID
rs79021510
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46138614 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCGTCAGCGGCACAGAGACTGCC[C/T]GCCTCAGACCCTCCTGTAGGGCCGC
Phenotype
MIM: 120240 MIM: 606806
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COL6A2 PubMed Links

Gene Details

Gene
COL6A2
Gene Name
collagen type VI alpha 2
There are no transcripts associated with this gene.

Gene
FTCD
Gene Name
formimidoyltransferase cyclodeaminase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320412.1 2424 Missense Mutation CAG,CGG Q446R NP_001307341.1
NM_006657.2 2424 Missense Mutation CAG,CGG Q446R NP_006648.1
NM_206965.1 2424 Missense Mutation CAG,CGG Q446R NP_996848.1
XM_006723961.3 2424 Missense Mutation CAG,CGG Q529R XP_006724024.2
XM_006723962.3 2424 Missense Mutation CAG,CGG Q529R XP_006724025.2
XM_011529434.2 2424 Missense Mutation CAG,CGG Q529R XP_011527736.1
XM_011529435.2 2424 Missense Mutation CAG,CGG Q486R XP_011527737.1
XM_011529436.2 2424 Missense Mutation CAG,CGG Q529R XP_011527738.1
XM_011529437.2 2424 Missense Mutation CAG,CGG Q529R XP_011527739.1
XM_011529439.2 2424 Missense Mutation CAG,CGG Q358R XP_011527741.1
XM_011529440.2 2424 Intron XP_011527742.1

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