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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