Product Details

SNP ID

rs35782968

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50476567 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGATGGCGGCAGCCAGCGCTGGGG[C/T]AACCCGGCTGCTCCTGCTCTTGCTG

Phenotype

MIM: 614545

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMC10 PubMed Links

Gene Details

Gene

EMC10

Gene Name

ER membrane protein complex subunit 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175063.5	180	Missense Mutation	GCA,GTA	A8V	NP_778233.4
NM_206538.3	180	Missense Mutation	GCA,GTA	A8V	NP_996261.1
XM_006723163.3	180	Missense Mutation	GCA,GTA	A8V	XP_006723226.1
XM_011526818.2	180	Missense Mutation	GCA,GTA	A8V	XP_011525120.1

Gene

FAM71E1

Gene Name

family with sequence similarity 71 member E1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308429.1	180	UTR 5			NP_001295358.1
NM_138411.2	180	UTR 5			NP_612420.1
XM_011526405.2	180	Intron			XP_011524707.2
XM_011526406.2	180	Intron			XP_011524708.2

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