Product Details

SNP ID

rs146805408

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:85780444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTACACGTGGATCGTAGGCGCTAC[A/G]CAGTCCATCGTAAACTTGGTGTTGT

Phenotype

MIM: 604886

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EMC8 PubMed Links

Gene Details

Gene

EMC8

Gene Name

ER membrane protein complex subunit 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142288.1	346	Intron			NP_001135760.1
NM_006067.4	346	Silent Mutation	TGC,TGT	C136C	NP_006058.1
XM_011522813.2	346	Intron			XP_011521115.1
XM_017022867.1	346	Silent Mutation	TGC,TGT	C84C	XP_016878356.1

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