Product Details

SNP ID

rs141076311

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43534787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGATAACAGATTGATCGCAGAAG[A/T]CTCCTGGGCCAGCCTGCCAACCTCC

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	4381	Missense Mutation	ACT,TCT	T1397S	NP_001124330.1
NM_001130859.2	4381	Missense Mutation	ACT,TCT	T1372S	NP_001124331.1
NM_001190214.1	4381	Missense Mutation	ACT,TCT	T1370S	NP_001177143.1
NM_014659.5	4381	Missense Mutation	ACT,TCT	T1372S	NP_055474.3
XM_005254803.1	4381	Missense Mutation	ACT,TCT	T1393S	XP_005254860.1
XM_005254804.1	4381	Missense Mutation	ACT,TCT	T1372S	XP_005254861.1
XM_006720786.2	4381	Missense Mutation	ACT,TCT	T1330S	XP_006720849.1
XM_011522249.1	4381	Missense Mutation	ACT,TCT	T1443S	XP_011520551.1
XM_011522250.1	4381	Missense Mutation	ACT,TCT	T1443S	XP_011520552.1
XM_011522252.1	4381	Missense Mutation	ACT,TCT	T1443S	XP_011520554.1
XM_011522254.1	4381	Missense Mutation	ACT,TCT	T1443S	XP_011520556.1
XM_011522258.1	4381	Missense Mutation	ACT,TCT	T1188S	XP_011520560.1
XM_011522259.1	4381	Missense Mutation	ACT,TCT	T1385S	XP_011520561.1
XM_017022735.1	4381	Missense Mutation	ACT,TCT	T1443S	XP_016878224.1
XM_017022736.1	4381	Missense Mutation	ACT,TCT	T1443S	XP_016878225.1
XM_017022737.1	4381	Missense Mutation	ACT,TCT	T1443S	XP_016878226.1
XM_017022738.1	4381	Missense Mutation	ACT,TCT	T1435S	XP_016878227.1
XM_017022739.1	4381	Missense Mutation	ACT,TCT	T1422S	XP_016878228.1
XM_017022740.1	4381	Missense Mutation	ACT,TCT	T1393S	XP_016878229.1
XM_017022741.1	4381	Missense Mutation	ACT,TCT	T1393S	XP_016878230.1
XM_017022742.1	4381	Missense Mutation	ACT,TCT	T1393S	XP_016878231.1
XM_017022743.1	4381	Missense Mutation	ACT,TCT	T1393S	XP_016878232.1
XM_017022744.1	4381	Missense Mutation	ACT,TCT	T1393S	XP_016878233.1
XM_017022745.1	4381	Missense Mutation	ACT,TCT	T1385S	XP_016878234.1
XM_017022746.1	4381	Missense Mutation	ACT,TCT	T1385S	XP_016878235.1
XM_017022747.1	4381	Missense Mutation	ACT,TCT	T1380S	XP_016878236.1
XM_017022748.1	4381	Missense Mutation	ACT,TCT	T1372S	XP_016878237.1
XM_017022749.1	4381	Missense Mutation	ACT,TCT	T1372S	XP_016878238.1
XM_017022750.1	4381	Missense Mutation	ACT,TCT	T1372S	XP_016878239.1
XM_017022751.1	4381	Missense Mutation	ACT,TCT	T1372S	XP_016878240.1
XM_017022752.1	4381	Missense Mutation	ACT,TCT	T1364S	XP_016878241.1
XM_017022753.1	4381	Missense Mutation	ACT,TCT	T1364S	XP_016878242.1
XM_017022754.1	4381	Missense Mutation	ACT,TCT	T1330S	XP_016878243.1
XM_017022755.1	4381	Missense Mutation	ACT,TCT	T1330S	XP_016878244.1
XM_017022756.1	4381	Missense Mutation	ACT,TCT	T1330S	XP_016878245.1
XM_017022757.1	4381	Missense Mutation	ACT,TCT	T1330S	XP_016878246.1
XM_017022758.1	4381	Missense Mutation	ACT,TCT	T1117S	XP_016878247.1
XM_017022759.1	4381	Intron			XP_016878248.1
XM_017022760.1	4381	Missense Mutation	ACT,TCT	T729S	XP_016878249.1

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