Product Details

SNP ID

rs200066533

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55531230 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGTGCCGACTCGATGCCAATGCC[G/T]TAGGCCGTCACGATGGCTGAGTGCG

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SBK2 PubMed Links

Gene Details

Gene

SBK2

Gene Name

SH3 domain binding kinase family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101401.2	384	Nonsense Mutation	TAA,TAC	*123Y	NP_001094871.2
XM_006723327.3	384	Nonsense Mutation	TAA,TAC	*123Y	XP_006723390.1
XM_011527227.2	384	Nonsense Mutation	TAA,TAC	*123Y	XP_011525529.1

Gene

SBK3

Gene Name

SH3 domain binding kinase family member 3

There are no transcripts associated with this gene.

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