Product Details

SNP ID
rs199612227
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:112586033 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCGGGAGCTGGAGCAGTATGGCC[A/G]GTGTGTGGCGGCCAAGCCGGAATCC
Phenotype
MIM: 616978 MIM: 602000
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHCHD5 PubMed Links

Gene Details

Gene
CHCHD5
Gene Name
coiled-coil-helix-coiled-coil-helix domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304353.1 1104 UTR 5 NP_001291282.1
NM_001304354.1 1104 UTR 5 NP_001291283.1
NM_032309.3 1104 Missense Mutation CAG,CGG Q21R NP_115685.1
XM_005263824.3 1104 Missense Mutation CAG,CGG Q21R XP_005263881.1
Gene
POLR1B
Gene Name
RNA polymerase I subunit B
There are no transcripts associated with this gene.

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