Product Details

SNP ID
rs143048843
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:40770809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCCCCACCTGCCTACACAGCAG[C/G]CTACTCTGCCACCCTGCCATCGGCG
Phenotype
MIM: 616844 MIM: 602437
Polymorphism
C/G, Transversion 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_001130448.2 849 Missense Mutation GCC,GGC A105G 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_018163.2 849 Intron NP_060633.1
XM_017022401.1 849 Intron XP_016877890.1
XM_017022402.1 849 Intron XP_016877891.1
Gene
GCHFR
Gene Name
GTP cyclohydrolase I feedback regulator
There are no transcripts associated with this gene.

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