Product Details

SNP ID

rs202020450

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54178790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCAGGACATAGGAACGGGCAGGTG[C/T]GCTCTTGTAGATATACTGCGCCAGC

Phenotype

MIM: 606048

Polymorphism

C/T, 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	1348	Missense Mutation	ACA,GCA	T263A	NP_001139528.1
NM_001146082.2	1348	Missense Mutation	ACA,GCA	T336A	NP_001139554.1
NM_001146083.2	1348	Missense Mutation	ACA,GCA	T263A	NP_001139555.1
NM_024298.4	1348	Missense Mutation	ACA,GCA	T336A	NP_077274.3
XM_011527299.2	1348	Missense Mutation	ACA,GCA	T336A	XP_011525601.1
XM_011527300.2	1348	Missense Mutation	ACA,GCA	T336A	XP_011525602.1
XM_017027296.1	1348	Missense Mutation	ACA,GCA	T336A	XP_016882785.1

Gene

TMC4

Gene Name

transmembrane channel like 4

There are no transcripts associated with this gene.

View Full Product Details