Product Details

SNP ID
rs200500907
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:122994544 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTAAGGAAGACCTAGTACCTTTAA[C/T]TGGTACCATTTTATGCTTGCGCCTT
Phenotype
MIM: 606238 MIM: 611310
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IKZF5 PubMed Links

Gene Details

Gene
IKZF5
Gene Name
IKAROS family zinc finger 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271840.1 1295 Missense Mutation ATT,GTT I166V NP_001258769.1
XM_006717947.3 1295 Missense Mutation ATT,GTT I166V XP_006718010.1
XM_017016550.1 1295 Missense Mutation ATT,GTT I166V XP_016872039.1
XM_017016551.1 1295 Missense Mutation ATT,GTT I166V XP_016872040.1
XM_017016552.1 1295 Missense Mutation ATT,GTT I166V XP_016872041.1
XM_017016553.1 1295 Missense Mutation ATT,GTT I98V XP_016872042.1
XM_017016554.1 1295 Missense Mutation ATT,GTT I98V XP_016872043.1
XM_017016555.1 1295 Missense Mutation ATT,GTT I98V XP_016872044.1
Gene
PSTK
Gene Name
phosphoseryl-tRNA kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153336.2 1295 Intron NP_699167.2
XM_017015640.1 1295 Intron XP_016871129.1
XM_017015641.1 1295 Intron XP_016871130.1

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