Product Details

SNP ID: rs77782321
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:35907512 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGTACACGGCCAGGGCAATGAGCA[A/C]TGTCAGCACCAGGTCTCCCATCACG
Phenotype: MIM: 604089 MIM: 604142
Polymorphism: A/C, Transversion 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	244	Missense Mutation	GTG,TTG	V44L	NP_001166985.1
NM_001173515.1	244	Missense Mutation	GTG,TTG	V44L	NP_001166986.1
NM_003332.3	244	Missense Mutation	GTG,TTG	V55L	NP_003323.1
NM_198125.2	244	Missense Mutation	GTG,TTG	V55L	NP_937758.1

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