Product Details

SNP ID
rs200325370
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:73563433 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGATGACGAGGAGGATGAGGAGG[A/G]AGAGGAGGAAGAGGAGGAGGAGGAA
Phenotype
MIM: 300922
Polymorphism
A/G, 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_001039840.2 389 Missense Mutation GAA,GGA E50G NP_001034929.2
NM_001300884.1 389 Missense Mutation GAA,GGA E50G NP_001287813.1
XM_017029582.1 389 Missense Mutation GAA,GGA E50G XP_016885071.1
XM_017029583.1 389 Intron XP_016885072.1
XM_017029584.1 389 Missense Mutation GAA,GGA E50G 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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