Product Details

SNP ID
rs147175675
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:103375781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGGGCCAGCAGGAGTGCCTGGTC[A/G]AGACGGGAGCCCTGGGGCCAATGGC
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_001256099.1 301 Missense Mutation CAA,CGA Q51R NP_001243028.1
NM_138455.3 301 Missense Mutation CAA,CGA Q65R NP_612464.1
XM_011516824.2 301 Missense Mutation CAA,CGA Q65R XP_011515126.1

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