Product Details

SNP ID
rs112505584
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:73563504 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGAGGAAGCGCCGCCCCCGCCT[C/T]GGGTAGTGAGCGAGGAGCATCTGCG
Phenotype
MIM: 300922
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHIC1 PubMed Links

Gene Details

Gene
CHIC1
Gene Name
cysteine rich hydrophobic domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039840.2 460 Missense Mutation CGG,TGG R74W NP_001034929.2
NM_001300884.1 460 Missense Mutation CGG,TGG R74W NP_001287813.1
XM_017029582.1 460 Missense Mutation CGG,TGG R74W XP_016885071.1
XM_017029583.1 460 Intron XP_016885072.1
XM_017029584.1 460 Missense Mutation CGG,TGG R74W XP_016885073.1
Gene
MAP2K4P1
Gene Name
mitogen-activated protein kinase kinase 4 pseudogene 1
There are no transcripts associated with this gene.

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