Product Details

SNP ID: rs186113485
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:40770560 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCTTCAAGCAGCTGAGCCTGGGGC[A/G]GCCACGGCGGCTCCGGCGACAGAGT
Phenotype: MIM: 616844 MIM: 602437
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: C15orf62 PubMed Links

Gene Details

Gene: C15orf62
Gene Name: chromosome 15 open reading frame 62

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130448.2	600	Missense Mutation	CAG,CGG	Q22R	NP_001123920.1

Gene: DNAJC17
Gene Name: DnaJ heat shock protein family (Hsp40) member C17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018163.2	600	Intron			NP_060633.1
XM_017022401.1	600	Intron			XP_016877890.1
XM_017022402.1	600	Intron			XP_016877891.1

Gene: GCHFR
Gene Name: GTP cyclohydrolase I feedback regulator

There are no transcripts associated with this gene.

View Full Product Details