Product Details

SNP ID: rs113689392
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:6374826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTCCTGCAGGGGCTCAGCCCGTTA[C/T]GACTTCTCCCATGAGATCCTTCGGG
Phenotype: MIM: 613305 MIM: 601119 MIM: 189968 MIM: 602921
Polymorphism: C/T, 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	483	Silent Mutation	TAC,TAT	Y173Y	NP_115682.1
XM_005259658.4	483	Silent Mutation	TAC,TAT	Y147Y	XP_005259715.1
XM_017027355.1	483	Missense Mutation	ACG,ATG	T247M	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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