Product Details

SNP ID
rs202072550
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:49471005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACACAGTGAAAAAAAATAAAAATC[A/G]TCTGAAAGATCTGTCTTCTGAAGGT
Phenotype
MIM: 611506 MIM: 609058
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CENPQ PubMed Links

Gene Details

Gene
CENPQ
Gene Name
centromere protein Q
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018132.3 159 Missense Mutation CAT,CGT H45R NP_060602.2
XM_005249205.1 159 Missense Mutation CAT,CGT H45R XP_005249262.1
XM_011514723.2 159 Missense Mutation CAT,CGT H48R XP_011513025.2
Gene
MUT
Gene Name
methylmalonyl-CoA mutase
There are no transcripts associated with this gene.

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