Product Details

SNP ID
rs140306197
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50476367 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGAGGGGGCGGCTCCTGGAGAT[C/G]AGGCCAAAGGGGCGGCCCCATCCTG
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 37 Intron NP_778233.4
NM_206538.3 37 Intron NP_996261.1
XM_006723163.3 37 Intron XP_006723226.1
XM_011526818.2 37 Intron 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 37 Missense Mutation CAT,GAT H8D NP_001295358.1
NM_138411.2 37 Missense Mutation CAT,GAT H8D NP_612420.1
XM_011526405.2 37 Missense Mutation CAT,GAT H8D XP_011524707.2
XM_011526406.2 37 Missense Mutation CAT,GAT H8D XP_011524708.2

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