Product Details

SNP ID

rs128621209

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:101353264 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGATGAGGCCTGTAGAGACGTAGG[T/C]CTTGGGCAATGTGTTCAGCAGTCTC

Phenotype

MIM: 300300 MIM: 300356

Polymorphism

T/C, 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	2031	Missense Mutation	GAC,GGC	D613G	NP_000052.1
NM_001287344.1	2031	Missense Mutation	GAC,GGC	D647G	NP_001274273.1
NM_001287345.1	2031	Missense Mutation	GAC,GGC	D437G	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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