Product Details

SNP ID
rs202180622
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:19220803 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGATCTCGGGGCGGCGGGGATCC[A/C]GCAAAGCCTTAGGAAGGGAAAGAAT
Phenotype
MIM: 616846
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EMC1 PubMed Links

Gene Details

Gene
EMC1
Gene Name
ER membrane protein complex subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271427.1 2683 Missense Mutation CGG,CTG R877L NP_001258356.1
NM_001271428.1 2683 Missense Mutation CGG,CTG R877L NP_001258357.1
NM_001271429.1 2683 Missense Mutation CGG,CTG R856L NP_001258358.1
NM_015047.2 2683 Missense Mutation CGG,CTG R878L NP_055862.1
XM_005245787.1 2683 Missense Mutation CGG,CTG R881L XP_005245844.1
XM_005245788.1 2683 Missense Mutation CGG,CTG R880L XP_005245845.1
Gene
LOC101927895
Gene Name
uncharacterized LOC101927895
There are no transcripts associated with this gene.

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