Product Details

SNP ID

rs104894770

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:101353935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAGGACTTCCGGTGGGGACCAC[C/G]GGACTGGAAATTTGGAGCCTACTGA

Phenotype

MIM: 300300 MIM: 300356

Polymorphism

C/G, 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	1878	Missense Mutation	CCG,CGG	P562R	NP_000052.1
NM_001287344.1	1878	Missense Mutation	CCG,CGG	P596R	NP_001274273.1
NM_001287345.1	1878	Missense Mutation	CCG,CGG	P386R	NP_001274274.1

Gene

TIMM8A

Gene Name

translocase of inner mitochondrial membrane 8 homolog A (yeast)

There are no transcripts associated with this gene.

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