Product Details

SNP ID
rs57396313
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:75087614 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCGTTGTATGGGATGCTGGCACA[C/G]TGAGAAGAATCACAGTATCCAGGAG
Phenotype
MIM: 120320
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
COL12A1 PubMed Links

Gene Details

Gene
COL12A1
Gene Name
collagen type XII alpha 1 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004370.5 9181 Missense Mutation CAC,CAG H3048Q NP_004361.3
NM_080645.2 9181 Missense Mutation CAC,CAG H1884Q NP_542376.2
XM_011535434.1 9181 Missense Mutation CAC,CAG H3048Q XP_011533736.1
XM_011535435.1 9181 Missense Mutation CAC,CAG H2957Q XP_011533737.1
XM_011535436.2 9181 Missense Mutation CAC,CAG H1884Q XP_011533738.1
XM_017010252.1 9181 Missense Mutation CAC,CAG H3036Q XP_016865741.1

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