Product Details

SNP ID
rs1057388
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101349745 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGGAATCAAAGAAGAGGTGCAT[C/T]CCCAGATGTAGAGAGGGGCCTTTTT
Phenotype
MIM: 300300 MIM: 300356
Polymorphism
C/T, Transition 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 2313 UTR 3 NP_000052.1
NM_001287344.1 2313 UTR 3 NP_001274273.1
NM_001287345.1 2313 UTR 3 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 2313 Intron NP_001139423.1
NM_004085.3 2313 Intron NP_004076.1

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