Product Details

SNP ID
rs189313404
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:34236078 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCGCTTTTTGTCCCCGGGATGCC[A/G]TGTACTTGTCTTTTGTCCAAGTCAT
Phenotype
MIM: 616245 MIM: 604878
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EMC4 PubMed Links

Gene Details

Gene
EMC4
Gene Name
ER membrane protein complex subunit 4
There are no transcripts associated with this gene.

Gene
SLC12A6
Gene Name
solute carrier family 12 member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042494.1 3283 Missense Mutation NP_001035959.1
NM_001042495.1 3283 Missense Mutation NP_001035960.1
NM_001042496.1 3283 Missense Mutation NP_001035961.1
NM_001042497.1 3283 Missense Mutation NP_001035962.1
NM_005135.2 3283 Missense Mutation NP_005126.1
NM_133647.1 3283 Missense Mutation NP_598408.1
XM_006720793.3 3283 Missense Mutation XP_006720856.1
XM_011522269.2 3283 Intron XP_011520571.1

View Full Product Details