Product Details

SNP ID
rs34207326
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:19219569 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGGCAGCTGTGGGCTCTACTCAC[C/T]AAACAAGTGGACTCCAGACCCGAGG
Phenotype
MIM: 616846 MIM: 609890
Polymorphism
C/T, Transition 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 2852 Silent Mutation TTA,TTG L933L NP_001258356.1
NM_001271428.1 2852 Silent Mutation TTA,TTG L933L NP_001258357.1
NM_001271429.1 2852 Silent Mutation TTA,TTG L912L NP_001258358.1
NM_015047.2 2852 Silent Mutation TTA,TTG L934L NP_055862.1
XM_005245787.1 2852 Silent Mutation TTA,TTG L937L XP_005245844.1
XM_005245788.1 2852 Silent Mutation TTA,TTG L936L XP_005245845.1
Gene
LOC101927895
Gene Name
uncharacterized LOC101927895
There are no transcripts associated with this gene.

Gene
UBR4
Gene Name
ubiquitin protein ligase E3 component n-recognin 4
There are no transcripts associated with this gene.

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