Product Details

SNP ID
rs142884185
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50477950 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGCTGGGGCGGAAGGTCGAGAG[C/G]GCGAGGCCTGTGGCACGGTGGGGCT
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_175063.5 204 Missense Mutation CGC,GGC R46G NP_778233.4
NM_206538.3 204 Missense Mutation CGC,GGC R46G NP_996261.1
XM_006723163.3 204 Missense Mutation CGC,GGC R46G XP_006723226.1
XM_011526818.2 204 Missense Mutation CGC,GGC R46G XP_011525120.1
Gene
FAM71E1
Gene Name
family with sequence similarity 71 member E1
There are no transcripts associated with this gene.

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