Product Details

SNP ID

rs138520310

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24137354 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCAATGAAGCCAACTTGAGCAAT[A/C]TGAAGGCCCCATTGGACATCCCAGT

Phenotype

MIM: 612028 MIM: 600654 MIM: 602161 MIM: 612487

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EMC9 PubMed Links

Gene Details

Gene

EMC9

Gene Name

ER membrane protein complex subunit 9

There are no transcripts associated with this gene.

Gene

FITM1

Gene Name

fat storage inducing transmembrane protein 1

There are no transcripts associated with this gene.

Gene

MIR7703

Gene Name

microRNA 7703

There are no transcripts associated with this gene.

Gene

PSME1

Gene Name

proteasome activator subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281528.1	274	Missense Mutation	ATG,CTG	M57L	NP_001268457.1
NM_001281529.1	274	Missense Mutation	ATG,CTG	M57L	NP_001268458.1
NM_006263.3	274	Missense Mutation	ATG,CTG	M57L	NP_006254.1
NM_176783.2	274	Missense Mutation	ATG,CTG	M57L	NP_788955.1

Gene

PSME2

Gene Name

proteasome activator subunit 2

There are no transcripts associated with this gene.

Gene

RNF31

Gene Name

ring finger protein 31

There are no transcripts associated with this gene.

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