Product Details

SNP ID

rs7540

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.19:6374879 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GAAGAGTCCTTCTTTGGGGAACGCC[A/G]GATTCCCCGGGGCCGGCGCATCTCC

Phenotype

MIM: 613305 MIM: 601119 MIM: 189968 MIM: 602921

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ALKBH7 PubMed Links

Gene Details

Gene

ALKBH7

Gene Name

alkB homolog 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032306.3	536	Missense Mutation	CAG,CGG	Q191R	NP_115682.1
XM_005259658.4	536	Missense Mutation	CAG,CGG	Q165R	XP_005259715.1
XM_017027355.1	536	Missense Mutation	AGA,GGA	R265G	XP_016882844.1

Gene

CLPP

Gene Name

caseinolytic mitochondrial matrix peptidase proteolytic subunit

There are no transcripts associated with this gene.

Gene

GTF2F1

Gene Name

general transcription factor IIF subunit 1

There are no transcripts associated with this gene.

Gene

PSPN

Gene Name

persephin

There are no transcripts associated with this gene.

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