Product Details

SNP ID

rs138723852

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:19256051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCGGAACGCCTGGAAGCACAGCC[A/G]GTGAGCGGGCAGGGGGAGGAAGGCC

Phenotype

MIM: 608478 MIM: 616846

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AKR7L PubMed Links

Gene Details

Gene

AKR7L

Gene Name

aldo-keto reductase family 7 like (gene/pseudogene)

There are no transcripts associated with this gene.

Gene

EMC1

Gene Name

ER membrane protein complex subunit 1

There are no transcripts associated with this gene.

Gene

MRTO4

Gene Name

MRT4 homolog, ribosome maturation factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016183.3	446	Missense Mutation	CAG,CGG	Q64R	NP_057267.2
XM_006710675.3	446	Missense Mutation	CAG,CGG	Q17R	XP_006710738.1

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