Product Details

SNP ID
rs143957744
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54178810 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGCGCTCTTGTAGATATACTGC[A/G]CCAGCCACCACTGCACCGTCATGTT
Phenotype
MIM: 606048
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MBOAT7 PubMed Links

Gene Details

Gene
MBOAT7
Gene Name
membrane bound O-acyltransferase domain containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146056.2 1328 Missense Mutation NP_001139528.1
NM_001146082.2 1328 Missense Mutation NP_001139554.1
NM_001146083.2 1328 Missense Mutation NP_001139555.1
NM_024298.4 1328 Missense Mutation NP_077274.3
XM_011527299.2 1328 Missense Mutation XP_011525601.1
XM_011527300.2 1328 Missense Mutation XP_011525602.1
XM_017027296.1 1328 Missense Mutation XP_016882785.1
Gene
TMC4
Gene Name
transmembrane channel like 4
There are no transcripts associated with this gene.

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