Product Details

SNP ID

rs128622212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:101349910 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGGATTCTTCATCCATGACATCT[A/G]GAATATTGCTCAGAAGAATTTTGAA

Phenotype

MIM: 300300 MIM: 300356

Polymorphism

A/G, 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	2148	Missense Mutation	CCA,CTA	P652L	NP_000052.1
NM_001287344.1	2148	Missense Mutation	CCA,CTA	P686L	NP_001274273.1
NM_001287345.1	2148	Missense Mutation	CCA,CTA	P476L	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	2148	Intron			NP_001139423.1
NM_004085.3	2148	Intron			NP_004076.1

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