Product Details

SNP ID

rs201748852

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:75234141 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCTGATGTAGACCCTGACGTCCC[A/G]CCGGATGCGTTCGTTTAGGTTTCGC

Phenotype

MIM: 193245

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COMTD1 PubMed Links

Gene Details

Gene

COMTD1

Gene Name

catechol-O-methyltransferase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144589.2	805	Missense Mutation	CGG,TGG	R241W	NP_653190.2

Gene

VDAC2

Gene Name

voltage dependent anion channel 2

There are no transcripts associated with this gene.

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