Product Details

SNP ID

rs371934738

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50476598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGCTCCTGCTCTTGCTGATGGC[C/G]GTAGCAGCGCCCAGTCGAGCCCGGG

Phenotype

MIM: 614545

Polymorphism

C/G, Transversion 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	149	Silent Mutation	GCC,GCG	A18A	NP_778233.4
NM_206538.3	149	Silent Mutation	GCC,GCG	A18A	NP_996261.1
XM_006723163.3	149	Silent Mutation	GCC,GCG	A18A	XP_006723226.1
XM_011526818.2	149	Silent Mutation	GCC,GCG	A18A	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	149	UTR 5			NP_001295358.1
NM_138411.2	149	UTR 5			NP_612420.1
XM_011526405.2	149	Intron			XP_011524707.2
XM_011526406.2	149	Intron			XP_011524708.2

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