Product Details

SNP ID

rs201844542

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73782346 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGCGACTTGCATCACGGAGATG[G/T]CGGTGATGATGGCTTGCTGGAAGCA

Phenotype

MIM: 608842 MIM: 616932

Polymorphism

G/T, Transversion 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	174	Missense Mutation	GCG,TCG	A50S	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.

View Full Product Details