Product Details

SNP ID
rs149662990
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:103375807 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACGGGAGCCCTGGGGCCAATGGC[A/G]TTCCGGGTACACCTGGGATCCCAGG
Phenotype
MIM: 610635
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CTHRC1 PubMed Links

Gene Details

Gene
CTHRC1
Gene Name
collagen triple helix repeat containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256099.1 327 Missense Mutation ATT,GTT I60V NP_001243028.1
NM_138455.3 327 Missense Mutation ATT,GTT I74V NP_612464.1
XM_011516824.2 327 Missense Mutation ATT,GTT I74V XP_011515126.1

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