Product Details

SNP ID
rs200178350
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:75087711 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAGGGGGACCTCTTGAACCTGTG[A/G]ACCCTGGTGGACCTGTTCTGGATTC
Phenotype
MIM: 120320
Polymorphism
A/G, Transition 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 9084 Missense Mutation TCC,TTC S3016F NP_004361.3
NM_080645.2 9084 Missense Mutation TCC,TTC S1852F NP_542376.2
XM_011535434.1 9084 Missense Mutation TCC,TTC S3016F XP_011533736.1
XM_011535435.1 9084 Missense Mutation TCC,TTC S2925F XP_011533737.1
XM_011535436.2 9084 Missense Mutation TCC,TTC S1852F XP_011533738.1
XM_017010252.1 9084 Missense Mutation TCC,TTC S3004F XP_016865741.1

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