Product Details

SNP ID
rs111033631
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101348595 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCGCTGCTTTTGAGTCTCTACCT[C/A]GATGAAATGCTGCAACTGCGGGTCC
Phenotype
MIM: 300300 MIM: 300356
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
BTK PubMed Links

Gene Details

Gene
BTK
Gene Name
Bruton tyrosine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000061.2 126 Intron NP_000052.1
NM_001287344.1 126 Intron NP_001274273.1
NM_001287345.1 126 Intron NP_001274274.1
Gene
TIMM8A
Gene Name
translocase of inner mitochondrial membrane 8 homolog A (yeast)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145951.1 126 Missense Mutation NP_001139423.1
NM_004085.3 126 Missense Mutation NP_004076.1

View Full Product Details