Product Details

SNP ID

rs147705721

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24144015 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGCCTTGGCCACAGCATCCCCA[C/T]GTTCTGAGAAGTACCTGCCAGAAGC

Phenotype

MIM: 600654 MIM: 602161 MIM: 612487

Polymorphism

C/T, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002818.2	1371	Intron			NP_002809.2
XM_006720213.1	1371	Missense Mutation	CAT,CGT	H94R	XP_006720276.1

Gene

RNF31

Gene Name

ring finger protein 31

There are no transcripts associated with this gene.

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