Product Details

SNP ID
rs200732409
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73783099 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGCCCGAAAGATGAGATCAATAC[A/G]GGAAACCCTGGGAGAGTCTGGGAGT
Phenotype
MIM: 608842 MIM: 616932
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CHCHD1 PubMed Links

Gene Details

Gene
CHCHD1
Gene Name
coiled-coil-helix-coiled-coil-helix domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_203298.2 295 Missense Mutation CAG,CGG Q90R NP_976043.1
Gene
FUT11
Gene Name
fucosyltransferase 11
There are no transcripts associated with this gene.

Gene
ZSWIM8
Gene Name
zinc finger SWIM-type containing 8
There are no transcripts associated with this gene.

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