Product Details

SNP ID

rs200181696

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73783140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGGGAGTTTACTTCCAAATAAA[C/T]TGAATAAGTTGTTACAGAGGTTTCC

Phenotype

MIM: 608842 MIM: 616932

Polymorphism

C/T, 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	336	Silent Mutation	CTG,TTG	L104L	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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