Product Details

SNP ID

rs142515948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:41504539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCAGCCCCTAGGAGGGTCCATC[C/T]GGCCTCCTCCAACGACGAAGTCCAG

Phenotype

MIM: 147521 MIM: 151520

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ITPKA PubMed Links

Gene Details

Gene

ITPKA

Gene Name

inositol-trisphosphate 3-kinase A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002220.2	2319	Intron			NP_002211.1
XM_011521522.2	2319	Intron			XP_011519824.1

Gene

LTK

Gene Name

leukocyte receptor tyrosine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135685.1	2319	Missense Mutation	CAG,CGG	Q611R	NP_001129157.1
NM_002344.5	2319	Missense Mutation	CAG,CGG	Q741R	NP_002335.2
NM_206961.3	2319	Missense Mutation	CAG,CGG	Q680R	NP_996844.1
XM_011521556.2	2319	Missense Mutation	CAG,CGG	Q757R	XP_011519858.1
XM_011521557.2	2319	Missense Mutation	CAG,CGG	Q701R	XP_011519859.1
XM_017022181.1	2319	Missense Mutation	CAG,CGG	Q762R	XP_016877670.1
XM_017022182.1	2319	Missense Mutation	CAG,CGG	Q714R	XP_016877671.1
XM_017022183.1	2319	Missense Mutation	CAG,CGG	Q677R	XP_016877672.1

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