Product Details

SNP ID: rs146615949
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:35903843 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTCGTGGCTGCTGATGCGGTGGCA[C/T]CGCTGCTCATCGTGGGGGCGGTGTT
Phenotype: MIM: 604089 MIM: 604142
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: HCST PubMed Links

Gene Details

Gene: HCST
Gene Name: hematopoietic cell signal transducer

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007469.1	295	Missense Mutation	CCG,TCG	P61S	NP_001007470.1
NM_014266.3	295	Missense Mutation	CCG,TCG	P61S	NP_055081.1
XM_017026193.1	295	Silent Mutation	CAC,CAT	H101H	XP_016881682.1

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	295	Intron			NP_001166985.1
NM_001173515.1	295	Intron			NP_001166986.1
NM_003332.3	295	Intron			NP_003323.1
NM_198125.2	295	Intron			NP_937758.1

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