Product Details

SNP ID
rs145525277
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144098911 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTGCAGCAAGGGGGTCCCAAGT[A/G]CAGGGCCTCTGGGTGCTACACATCT
Phenotype
MIM: 123980 MIM: 610210 MIM: 611885
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CYC1 PubMed Links

Gene Details

Gene
CYC1
Gene Name
cytochrome c1
There are no transcripts associated with this gene.

Gene
MAF1
Gene Name
MAF1 homolog, negative regulator of RNA polymerase III
There are no transcripts associated with this gene.

Gene
SHARPIN
Gene Name
SHANK associated RH domain interactor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030974.3 1615 Silent Mutation TGC,TGT C377C NP_112236.3
XM_017013887.1 1615 Silent Mutation TGC,TGT C375C XP_016869376.1
XM_017013888.1 1615 UTR 3 XP_016869377.1
Gene
WDR97
Gene Name
WD repeat domain 97
There are no transcripts associated with this gene.

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