Product Details

SNP ID

rs40357

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54189676 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCCGAAGGGGAACAGACGGGCTC[C/T]GGAAAGGAGGCGGGGTCTGGAGCTC

Phenotype

MIM: 606048 MIM: 608754

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	207	UTR 5			NP_001139528.1
NM_001146082.2	207	UTR 5			NP_001139554.1
NM_001146083.2	207	UTR 5			NP_001139555.1
NM_024298.4	207	UTR 5			NP_077274.3
XM_011527299.2	207	UTR 5			XP_011525601.1
XM_011527300.2	207	Intron			XP_011525602.1
XM_017027296.1	207	UTR 5			XP_016882785.1

Gene

TSEN34

Gene Name

tRNA splicing endonuclease subunit 34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077446.3	207	Intron			NP_001070914.1
NM_001282332.1	207	Intron			NP_001269261.1
NM_001282333.1	207	Intron			NP_001269262.1
NM_024075.4	207	Intron			NP_076980.2
XM_005278290.4	207	Intron			XP_005278347.1
XM_011527294.2	207	Intron			XP_011525596.1
XM_011527295.1	207	Intron			XP_011525597.1

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