Product Details

SNP ID
rs201144283
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:216708 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGCAGCCATCATCCTATTTGTCT[C/G]GTCCATCAAGCTGGAATACAGAAGA
Phenotype
MIM: 615417 MIM: 609146 MIM: 604481
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
BET1L PubMed Links

Gene Details

Gene
BET1L
Gene Name
Bet1 golgi vesicular membrane trafficking protein like
There are no transcripts associated with this gene.

Gene
MIR6743
Gene Name
microRNA 6743
There are no transcripts associated with this gene.

Gene
RIC8A
Gene Name
RIC8 guanine nucleotide exchange factor A
There are no transcripts associated with this gene.

Gene
SIRT3
Gene Name
sirtuin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017524.2 1238 Missense Mutation CCA,CGA P255R NP_001017524.1
NM_012239.5 1238 Missense Mutation CCA,CGA P397R NP_036371.1
XM_005252835.1 1238 Missense Mutation CCA,CGA P415R XP_005252892.1
XM_011519956.1 1238 Missense Mutation CCA,CGA P273R XP_011518258.1
XM_011519957.1 1238 Missense Mutation CCA,CGA P273R XP_011518259.1
XM_017017428.1 1238 Missense Mutation CCA,CGA P273R XP_016872917.1
XM_017017429.1 1238 Missense Mutation CCA,CGA P273R XP_016872918.1
XM_017017430.1 1238 Missense Mutation CCA,CGA P255R XP_016872919.1
XM_017017431.1 1238 Missense Mutation CCA,CGA P273R XP_016872920.1

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