Product Details

SNP ID
rs199935291
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:41504581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGTCCAGCACCTCCTGGTTGGTG[C/T]GCCCAGGATAGGGCATGTAGCCCAG
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
There are no transcripts associated with this gene.

Gene
LTK
Gene Name
leukocyte receptor tyrosine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135685.1 2277 Missense Mutation CAC,CGC H597R NP_001129157.1
NM_002344.5 2277 Missense Mutation CAC,CGC H727R NP_002335.2
NM_206961.3 2277 Missense Mutation CAC,CGC H666R NP_996844.1
XM_011521556.2 2277 Missense Mutation CAC,CGC H743R XP_011519858.1
XM_011521557.2 2277 Missense Mutation CAC,CGC H687R XP_011519859.1
XM_017022181.1 2277 Missense Mutation CAC,CGC H748R XP_016877670.1
XM_017022182.1 2277 Missense Mutation CAC,CGC H700R XP_016877671.1
XM_017022183.1 2277 Missense Mutation CAC,CGC H663R XP_016877672.1

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