Product Details

SNP ID
rs144418967
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43535252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGGCTGGTTTCCATAGGTGGCA[C/T]CTGTGGGGACTGATTTGGTTCAAAA
Phenotype
MIM: 600178 MIM: 610979
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAP1A PubMed Links

Gene Details

Gene
MAP1A
Gene Name
microtubule associated protein 1A
There are no transcripts associated with this gene.

Gene
PPIP5K1
Gene Name
diphosphoinositol pentakisphosphate kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130858.2 3916 Missense Mutation ATG,GTG M1242V NP_001124330.1
NM_001130859.2 3916 Missense Mutation ATG,GTG M1217V NP_001124331.1
NM_001190214.1 3916 Missense Mutation ATG,GTG M1215V NP_001177143.1
NM_014659.5 3916 Missense Mutation ATG,GTG M1217V NP_055474.3
XM_005254803.1 3916 Missense Mutation ATG,GTG M1238V XP_005254860.1
XM_005254804.1 3916 Missense Mutation ATG,GTG M1217V XP_005254861.1
XM_006720786.2 3916 Missense Mutation ATG,GTG M1175V XP_006720849.1
XM_011522249.1 3916 Missense Mutation ATG,GTG M1288V XP_011520551.1
XM_011522250.1 3916 Missense Mutation ATG,GTG M1288V XP_011520552.1
XM_011522252.1 3916 Missense Mutation ATG,GTG M1288V XP_011520554.1
XM_011522254.1 3916 Missense Mutation ATG,GTG M1288V XP_011520556.1
XM_011522258.1 3916 Missense Mutation ATG,GTG M1033V XP_011520560.1
XM_011522259.1 3916 Missense Mutation ATG,GTG M1230V XP_011520561.1
XM_017022735.1 3916 Missense Mutation ATG,GTG M1288V XP_016878224.1
XM_017022736.1 3916 Missense Mutation ATG,GTG M1288V XP_016878225.1
XM_017022737.1 3916 Missense Mutation ATG,GTG M1288V XP_016878226.1
XM_017022738.1 3916 Missense Mutation ATG,GTG M1280V XP_016878227.1
XM_017022739.1 3916 Missense Mutation ATG,GTG M1267V XP_016878228.1
XM_017022740.1 3916 Missense Mutation ATG,GTG M1238V XP_016878229.1
XM_017022741.1 3916 Missense Mutation ATG,GTG M1238V XP_016878230.1
XM_017022742.1 3916 Missense Mutation ATG,GTG M1238V XP_016878231.1
XM_017022743.1 3916 Missense Mutation ATG,GTG M1238V XP_016878232.1
XM_017022744.1 3916 Missense Mutation ATG,GTG M1238V XP_016878233.1
XM_017022745.1 3916 Missense Mutation ATG,GTG M1230V XP_016878234.1
XM_017022746.1 3916 Missense Mutation ATG,GTG M1230V XP_016878235.1
XM_017022747.1 3916 Missense Mutation ATG,GTG M1225V XP_016878236.1
XM_017022748.1 3916 Missense Mutation ATG,GTG M1217V XP_016878237.1
XM_017022749.1 3916 Missense Mutation ATG,GTG M1217V XP_016878238.1
XM_017022750.1 3916 Missense Mutation ATG,GTG M1217V XP_016878239.1
XM_017022751.1 3916 Missense Mutation ATG,GTG M1217V XP_016878240.1
XM_017022752.1 3916 Missense Mutation ATG,GTG M1209V XP_016878241.1
XM_017022753.1 3916 Missense Mutation ATG,GTG M1209V XP_016878242.1
XM_017022754.1 3916 Missense Mutation ATG,GTG M1175V XP_016878243.1
XM_017022755.1 3916 Missense Mutation ATG,GTG M1175V XP_016878244.1
XM_017022756.1 3916 Missense Mutation ATG,GTG M1175V XP_016878245.1
XM_017022757.1 3916 Missense Mutation ATG,GTG M1175V XP_016878246.1
XM_017022758.1 3916 Missense Mutation ATG,GTG M962V XP_016878247.1
XM_017022759.1 3916 Intron XP_016878248.1
XM_017022760.1 3916 Missense Mutation ATG,GTG M574V XP_016878249.1

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