Product Details

SNP ID: rs140188939
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:35907256 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCGGTCTCAGTGATACGCTGTTTCC[A/G]GGTCGCTGCTGGAGGTGAGGGGTGT
Phenotype: MIM: 604089 MIM: 604142
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: HCST PubMed Links

Gene Details

Gene: HCST
Gene Name: hematopoietic cell signal transducer

There are no transcripts associated with this gene.

Gene: NFKBID
Gene Name: NFKB inhibitor delta

There are no transcripts associated with this gene.

Gene: TYROBP
Gene Name: TYRO protein tyrosine kinase binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173514.1	316	Missense Mutation	CGG,TGG	R69W	NP_001166985.1
NM_001173515.1	316	Missense Mutation	CGG,TGG	R68W	NP_001166986.1
NM_003332.3	316	Missense Mutation	CGG,TGG	R80W	NP_003323.1
NM_198125.2	316	Missense Mutation	CGG,TGG	R79W	NP_937758.1

View Full Product Details