Product Details

SNP ID
rs11550316
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54191524 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGGCCTCCCGCTGCTGCTGATG[A/C]CCGAAGAGGCGCGGCTCTTGGCCGA
Phenotype
MIM: 606048 MIM: 603631 MIM: 608754
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MBOAT7 PubMed Links

Gene Details

Gene
MBOAT7
Gene Name
membrane bound O-acyltransferase domain containing 7
There are no transcripts associated with this gene.

Gene
RPS9
Gene Name
ribosomal protein S9
There are no transcripts associated with this gene.

Gene
TSEN34
Gene Name
tRNA splicing endonuclease subunit 34
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077446.3 263 Missense Mutation ACC,CCC T54P NP_001070914.1
NM_001282332.1 263 Missense Mutation ACC,CCC T54P NP_001269261.1
NM_001282333.1 263 Missense Mutation ACC,CCC T57P NP_001269262.1
NM_024075.4 263 Missense Mutation ACC,CCC T54P NP_076980.2
XM_005278290.4 263 Missense Mutation ACC,CCC T57P XP_005278347.1
XM_011527294.2 263 Missense Mutation ACC,CCC T54P XP_011525596.1
XM_011527295.1 263 Missense Mutation ACC,CCC T54P XP_011525597.1

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