Product Details

SNP ID

rs200800520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:119498887 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACGTCCCAGAGCCCTATTACCCG[C/G]AATCTGGATGGGACCGCCTCCGGGA

Phenotype

MIM: 615618 MIM: 615534

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

POGLUT1 PubMed Links

Gene Details

Gene

POGLUT1

Gene Name

protein O-glucosyltransferase 1

There are no transcripts associated with this gene.

Gene

TIMMDC1

Gene Name

translocase of inner mitochondrial membrane domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016589.3	363	Missense Mutation	CAA,GAA	Q52E	NP_057673.2
XM_017006556.1	363	Missense Mutation	CAA,GAA	Q52E	XP_016862045.1

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