Product Details

SNP ID

rs190694809

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:30752184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTTCACTGGGGGTGATGAGTAC[C/T]AGAAGCACTTCCTGCCCAGGGACTA

Phenotype

MIM: 604854

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

INMT PubMed Links

Gene Details

Gene

INMT

Gene Name

indolethylamine N-methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199219.1	50	Nonsense Mutation	CAG,TAG	Q12*	NP_001186148.1
NM_006774.4	50	Nonsense Mutation	CAG,TAG	Q12*	NP_006765.4

Gene

INMT-FAM188B

Gene Name

INMT-FAM188B readthrough (NMD candidate)

There are no transcripts associated with this gene.

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