Product Details

SNP ID

hCV11612409

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:101353959 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGACTGGAAATTTGGAGCCTACT[C/G]AGCTTGTGTATTCATCATCCAGGAC

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	1854	Nonsense Mutation	TCA,TGA	S554*	NP_000052.1
NM_001287344.1	1854	Nonsense Mutation	TCA,TGA	S588*	NP_001274273.1
NM_001287345.1	1854	Nonsense Mutation	TCA,TGA	S378*	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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