Product Details

SNP ID

rs201493110

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35896757 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTATGCTCACGAATGTCAAGACGC[C/T]GGTACACCTGGAGCACCTCAGCCGC

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

There are no transcripts associated with this gene.

Gene

NFKBID

Gene Name

NFKB inhibitor delta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321831.1	545	Missense Mutation	CAG,CGG	Q91R	NP_001308760.1
NM_139239.2	545	Missense Mutation	CAG,CGG	Q76R	NP_640332.1
XM_005259340.3	545	Missense Mutation	CAG,CGG	Q91R	XP_005259397.1
XM_011527419.2	545	Missense Mutation	CAG,CGG	Q228R	XP_011525721.1
XM_011527420.2	545	Missense Mutation	CAG,CGG	Q91R	XP_011525722.1
XM_011527421.2	545	Missense Mutation	CAG,CGG	Q66R	XP_011525723.1
XM_011527424.2	545	Missense Mutation	CAG,CGG	Q91R	XP_011525726.1
XM_017027389.1	545	Missense Mutation	CAG,CGG	Q91R	XP_016882878.1
XM_017027390.1	545	Missense Mutation	CAG,CGG	Q91R	XP_016882879.1
XM_017027391.1	545	Missense Mutation	CAG,CGG	Q76R	XP_016882880.1
XM_017027392.1	545	Missense Mutation	CAG,CGG	Q76R	XP_016882881.1
XM_017027393.1	545	Missense Mutation	CAG,CGG	Q76R	XP_016882882.1
XM_017027394.1	545	Missense Mutation	CAG,CGG	Q66R	XP_016882883.1
XM_017027395.1	545	Missense Mutation	CAG,CGG	Q66R	XP_016882884.1
XM_017027396.1	545	Missense Mutation	CAG,CGG	Q76R	XP_016882885.1
XM_017027397.1	545	Missense Mutation	CAG,CGG	Q43R	XP_016882886.1

Gene

TYROBP

Gene Name

TYRO protein tyrosine kinase binding protein

There are no transcripts associated with this gene.

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