Product Details

SNP ID

rs139237891

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43534924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTACCAACCCCTACATGGAACTTA[A/T]GGACCAGCTTGCCAACCTCCACAGA

Phenotype

MIM: 600178 MIM: 610979

Polymorphism

A/T, Transversion 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	4244	Missense Mutation	CAT,CTT	H1351L	NP_001124330.1
NM_001130859.2	4244	Missense Mutation	CAT,CTT	H1326L	NP_001124331.1
NM_001190214.1	4244	Missense Mutation	CAT,CTT	H1324L	NP_001177143.1
NM_014659.5	4244	Missense Mutation	CAT,CTT	H1326L	NP_055474.3
XM_005254803.1	4244	Missense Mutation	CAT,CTT	H1347L	XP_005254860.1
XM_005254804.1	4244	Missense Mutation	CAT,CTT	H1326L	XP_005254861.1
XM_006720786.2	4244	Missense Mutation	CAT,CTT	H1284L	XP_006720849.1
XM_011522249.1	4244	Missense Mutation	CAT,CTT	H1397L	XP_011520551.1
XM_011522250.1	4244	Missense Mutation	CAT,CTT	H1397L	XP_011520552.1
XM_011522252.1	4244	Missense Mutation	CAT,CTT	H1397L	XP_011520554.1
XM_011522254.1	4244	Missense Mutation	CAT,CTT	H1397L	XP_011520556.1
XM_011522258.1	4244	Missense Mutation	CAT,CTT	H1142L	XP_011520560.1
XM_011522259.1	4244	Missense Mutation	CAT,CTT	H1339L	XP_011520561.1
XM_017022735.1	4244	Missense Mutation	CAT,CTT	H1397L	XP_016878224.1
XM_017022736.1	4244	Missense Mutation	CAT,CTT	H1397L	XP_016878225.1
XM_017022737.1	4244	Missense Mutation	CAT,CTT	H1397L	XP_016878226.1
XM_017022738.1	4244	Missense Mutation	CAT,CTT	H1389L	XP_016878227.1
XM_017022739.1	4244	Missense Mutation	CAT,CTT	H1376L	XP_016878228.1
XM_017022740.1	4244	Missense Mutation	CAT,CTT	H1347L	XP_016878229.1
XM_017022741.1	4244	Missense Mutation	CAT,CTT	H1347L	XP_016878230.1
XM_017022742.1	4244	Missense Mutation	CAT,CTT	H1347L	XP_016878231.1
XM_017022743.1	4244	Missense Mutation	CAT,CTT	H1347L	XP_016878232.1
XM_017022744.1	4244	Missense Mutation	CAT,CTT	H1347L	XP_016878233.1
XM_017022745.1	4244	Missense Mutation	CAT,CTT	H1339L	XP_016878234.1
XM_017022746.1	4244	Missense Mutation	CAT,CTT	H1339L	XP_016878235.1
XM_017022747.1	4244	Missense Mutation	CAT,CTT	H1334L	XP_016878236.1
XM_017022748.1	4244	Missense Mutation	CAT,CTT	H1326L	XP_016878237.1
XM_017022749.1	4244	Missense Mutation	CAT,CTT	H1326L	XP_016878238.1
XM_017022750.1	4244	Missense Mutation	CAT,CTT	H1326L	XP_016878239.1
XM_017022751.1	4244	Missense Mutation	CAT,CTT	H1326L	XP_016878240.1
XM_017022752.1	4244	Missense Mutation	CAT,CTT	H1318L	XP_016878241.1
XM_017022753.1	4244	Missense Mutation	CAT,CTT	H1318L	XP_016878242.1
XM_017022754.1	4244	Missense Mutation	CAT,CTT	H1284L	XP_016878243.1
XM_017022755.1	4244	Missense Mutation	CAT,CTT	H1284L	XP_016878244.1
XM_017022756.1	4244	Missense Mutation	CAT,CTT	H1284L	XP_016878245.1
XM_017022757.1	4244	Missense Mutation	CAT,CTT	H1284L	XP_016878246.1
XM_017022758.1	4244	Missense Mutation	CAT,CTT	H1071L	XP_016878247.1
XM_017022759.1	4244	Intron			XP_016878248.1
XM_017022760.1	4244	Missense Mutation	CAT,CTT	H683L	XP_016878249.1

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