Product Details

SNP ID

rs201013476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24148349 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGGCAGGAGGAGCCAGATGAGC[A/C]CCAGGTTGCTACAGTCACACTGGAA

Phenotype

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

MIR7703

Gene Name

microRNA 7703

There are no transcripts associated with this gene.

Gene

PSME1

Gene Name

proteasome activator subunit 1

There are no transcripts associated with this gene.

Gene

PSME2

Gene Name

proteasome activator subunit 2

There are no transcripts associated with this gene.

Gene

RNF31

Gene Name

ring finger protein 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001310332.1	272	UTR 5			NP_001297261.1
NM_017999.4	272	Missense Mutation	CAC,CCC	H144P	NP_060469.4

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