Product Details

SNP ID

rs16866827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:8858741 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGATTCTGATTGCAAACATTGTTTG[C/T]TGTAGAAAAACTGTTCTGTCCCAAA

Phenotype

MIM: 611949

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MBOAT2 PubMed Links

Gene Details

Gene

MBOAT2

Gene Name

membrane bound O-acyltransferase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321265.1	1714	Missense Mutation	ACA,GCA	T412A	NP_001308194.1
NM_001321266.1	1714	Missense Mutation	ACA,GCA	T368A	NP_001308195.1
NM_001321267.1	1714	Missense Mutation	ACA,GCA	T412A	NP_001308196.1
NM_138799.3	1714	Missense Mutation	ACA,GCA	T501A	NP_620154.2
XM_011510313.1	1714	Intron			XP_011508615.1
XM_011510314.2	1714	Intron			XP_011508616.1

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