Product Details

SNP ID

rs150575057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43535366 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGGCCTTGATGTTCTTCAGCCA[C/T]GTGTGAATTTAGGGAGGGTTGATCA

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	3802	Missense Mutation	ATG,GTG	M1204V	NP_001124330.1
NM_001130859.2	3802	Missense Mutation	ATG,GTG	M1179V	NP_001124331.1
NM_001190214.1	3802	Missense Mutation	ATG,GTG	M1177V	NP_001177143.1
NM_014659.5	3802	Missense Mutation	ATG,GTG	M1179V	NP_055474.3
XM_005254803.1	3802	Missense Mutation	ATG,GTG	M1200V	XP_005254860.1
XM_005254804.1	3802	Missense Mutation	ATG,GTG	M1179V	XP_005254861.1
XM_006720786.2	3802	Missense Mutation	ATG,GTG	M1137V	XP_006720849.1
XM_011522249.1	3802	Missense Mutation	ATG,GTG	M1250V	XP_011520551.1
XM_011522250.1	3802	Missense Mutation	ATG,GTG	M1250V	XP_011520552.1
XM_011522252.1	3802	Missense Mutation	ATG,GTG	M1250V	XP_011520554.1
XM_011522254.1	3802	Missense Mutation	ATG,GTG	M1250V	XP_011520556.1
XM_011522258.1	3802	Missense Mutation	ATG,GTG	M995V	XP_011520560.1
XM_011522259.1	3802	Missense Mutation	ATG,GTG	M1192V	XP_011520561.1
XM_017022735.1	3802	Missense Mutation	ATG,GTG	M1250V	XP_016878224.1
XM_017022736.1	3802	Missense Mutation	ATG,GTG	M1250V	XP_016878225.1
XM_017022737.1	3802	Missense Mutation	ATG,GTG	M1250V	XP_016878226.1
XM_017022738.1	3802	Missense Mutation	ATG,GTG	M1242V	XP_016878227.1
XM_017022739.1	3802	Missense Mutation	ATG,GTG	M1229V	XP_016878228.1
XM_017022740.1	3802	Missense Mutation	ATG,GTG	M1200V	XP_016878229.1
XM_017022741.1	3802	Missense Mutation	ATG,GTG	M1200V	XP_016878230.1
XM_017022742.1	3802	Missense Mutation	ATG,GTG	M1200V	XP_016878231.1
XM_017022743.1	3802	Missense Mutation	ATG,GTG	M1200V	XP_016878232.1
XM_017022744.1	3802	Missense Mutation	ATG,GTG	M1200V	XP_016878233.1
XM_017022745.1	3802	Missense Mutation	ATG,GTG	M1192V	XP_016878234.1
XM_017022746.1	3802	Missense Mutation	ATG,GTG	M1192V	XP_016878235.1
XM_017022747.1	3802	Missense Mutation	ATG,GTG	M1187V	XP_016878236.1
XM_017022748.1	3802	Missense Mutation	ATG,GTG	M1179V	XP_016878237.1
XM_017022749.1	3802	Missense Mutation	ATG,GTG	M1179V	XP_016878238.1
XM_017022750.1	3802	Missense Mutation	ATG,GTG	M1179V	XP_016878239.1
XM_017022751.1	3802	Missense Mutation	ATG,GTG	M1179V	XP_016878240.1
XM_017022752.1	3802	Missense Mutation	ATG,GTG	M1171V	XP_016878241.1
XM_017022753.1	3802	Missense Mutation	ATG,GTG	M1171V	XP_016878242.1
XM_017022754.1	3802	Missense Mutation	ATG,GTG	M1137V	XP_016878243.1
XM_017022755.1	3802	Missense Mutation	ATG,GTG	M1137V	XP_016878244.1
XM_017022756.1	3802	Missense Mutation	ATG,GTG	M1137V	XP_016878245.1
XM_017022757.1	3802	Missense Mutation	ATG,GTG	M1137V	XP_016878246.1
XM_017022758.1	3802	Missense Mutation	ATG,GTG	M924V	XP_016878247.1
XM_017022759.1	3802	Intron			XP_016878248.1
XM_017022760.1	3802	Missense Mutation	ATG,GTG	M536V	XP_016878249.1

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