Product Details

SNP ID
rs61754206
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48689602 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTGCTGACATTTTCGGATCTGG[G/T]TGGCTGCCTTCTCCTCTGAAGCATC
Phenotype
MIM: 606992 MIM: 606671
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
IP6K2 PubMed Links

Gene Details

Gene
IP6K2
Gene Name
inositol hexakisphosphate kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005909.2 968 Missense Mutation AAC,ACC N239T NP_001005909.1
NM_001005910.2 968 Intron NP_001005910.1
NM_001005911.2 968 Intron NP_001005911.1
NM_001146178.2 968 Intron NP_001139650.1
NM_001146179.2 968 Intron NP_001139651.1
NM_001190316.1 968 Intron NP_001177245.1
NM_001190317.1 968 Intron NP_001177246.1
NM_016291.3 968 Missense Mutation AAC,ACC N239T NP_057375.2
XM_006713199.3 968 Missense Mutation AAC,ACC N298T XP_006713262.1
XM_006713200.1 968 Missense Mutation AAC,ACC N297T XP_006713263.1
XM_006713201.1 968 Missense Mutation AAC,ACC N294T XP_006713264.1
XM_006713202.1 968 Missense Mutation AAC,ACC N293T XP_006713265.1
XM_011533816.1 968 Missense Mutation AAC,ACC N293T XP_011532118.1
XM_011533817.1 968 Missense Mutation AAC,ACC N201T XP_011532119.1
XM_011533818.1 968 Missense Mutation AAC,ACC N201T XP_011532120.1
XM_011533822.1 968 Intron XP_011532124.1
XM_011533823.1 968 Intron XP_011532125.1
XM_017006583.1 968 Missense Mutation AAC,ACC N239T XP_016862072.1
XM_017006584.1 968 Missense Mutation AAC,ACC N239T XP_016862073.1
XM_017006585.1 968 Missense Mutation AAC,ACC N239T XP_016862074.1
XM_017006586.1 968 Missense Mutation AAC,ACC N201T XP_016862075.1
XM_017006587.1 968 Missense Mutation AAC,ACC N201T XP_016862076.1
XM_017006588.1 968 Intron XP_016862077.1
XM_017006589.1 968 Intron XP_016862078.1
XM_017006590.1 968 Intron XP_016862079.1
XM_017006591.1 968 Intron XP_016862080.1
XM_017006592.1 968 Intron XP_016862081.1
XM_017006593.1 968 Intron XP_016862082.1
Gene
NCKIPSD
Gene Name
NCK interacting protein with SH3 domain
There are no transcripts associated with this gene.

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