Product Details

SNP ID
rs39714
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54189831 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGTCGAGAACGGAGAGCTGAGGCCA[C/G]TGTGGGCGGAGCCACATGTTTCGGC
Phenotype
MIM: 606048 MIM: 608754
Polymorphism
C/G, Transversion 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 52 UTR 5 NP_001139528.1
NM_001146082.2 52 UTR 5 NP_001139554.1
NM_001146083.2 52 UTR 5 NP_001139555.1
NM_024298.4 52 UTR 5 NP_077274.3
XM_011527299.2 52 UTR 5 XP_011525601.1
XM_011527300.2 52 Intron XP_011525602.1
XM_017027296.1 52 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 52 Intron NP_001070914.1
NM_001282332.1 52 Intron NP_001269261.1
NM_001282333.1 52 Intron NP_001269262.1
NM_024075.4 52 Intron NP_076980.2
XM_005278290.4 52 Intron XP_005278347.1
XM_011527294.2 52 Intron XP_011525596.1
XM_011527295.1 52 Intron XP_011525597.1

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