Product Details

SNP ID
rs143128469
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:85267868 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGCTGGATTCTCCTTCTGGATGG[C/T]ACATGACAGTGGATGCCCTCAGTTT
Phenotype
MIM: 603517
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BCL10 PubMed Links

Gene Details

Gene
BCL10
Gene Name
B-cell CLL/lymphoma 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320715.1 882 Missense Mutation TAC,TGC Y143C NP_001307644.1
NM_003921.4 882 Missense Mutation TAC,TGC Y154C NP_003912.1
XM_011542397.2 882 Missense Mutation TAC,TGC Y207C XP_011540699.1
XM_011542398.2 882 Missense Mutation TAC,TGC Y196C XP_011540700.1
XM_011542399.2 882 Missense Mutation TAC,TGC Y136C XP_011540701.1
Gene
C1orf52
Gene Name
chromosome 1 open reading frame 52
There are no transcripts associated with this gene.

Gene
LOC646626
Gene Name
uncharacterized LOC646626
There are no transcripts associated with this gene.

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