Product Details

SNP ID

hCV88377021

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:19255961 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGTCCCACAGCTTCGGAAATGTG[C/T]GGACACCTACAAGTACCTTTTCATC

Phenotype

MIM: 616846

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMC1 PubMed Links

Gene Details

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	356	Missense Mutation	GCG,GTG	A34V	NP_057267.2

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