Product Details

SNP ID
rs138189929
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:130005292 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACTGGACCAGTTCTGACCGGATT[C/T]GCATGTGTGGCATCAACGAGGAGAG
Phenotype
MIM: 300688
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BCORL1 PubMed Links

Gene Details

Gene
BCORL1
Gene Name
BCL6 corepressor-like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184772.2 606 Missense Mutation CGC,TGC R21C NP_001171701.1
NM_021946.4 606 Missense Mutation CGC,TGC R21C NP_068765.3
XM_005262452.4 606 Missense Mutation CGC,TGC R21C XP_005262509.2
XM_005262453.4 606 Missense Mutation CGC,TGC R21C XP_005262510.2
XM_005262454.3 606 Missense Mutation CGC,TGC R21C XP_005262511.2
XM_005262455.4 606 Missense Mutation CGC,TGC R21C XP_005262512.2
XM_005262456.4 606 Missense Mutation CGC,TGC R21C XP_005262513.2
XM_006724776.3 606 Missense Mutation CGC,TGC R21C XP_006724839.1
XM_006724777.3 606 Missense Mutation CGC,TGC R21C XP_006724840.1
XM_006724779.2 606 UTR 5 XP_006724842.1
XM_017029721.1 606 Missense Mutation CGC,TGC R21C XP_016885210.1
XM_017029722.1 606 Missense Mutation CGC,TGC R21C XP_016885211.1

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