Product Details

SNP ID

rs143477505

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:151199055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCGGTTTTTCATCCTTTGATCCCG[C/T]GGTCCCTTCCTGTACCTTGTCCTCA

Phenotype

MIM: 603275 MIM: 600607

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PIP5K1A PubMed Links

Gene Details

Gene

PIP5K1A

Gene Name

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135636.1	511	Missense Mutation	GCG,GTG	A20V	NP_001129108.1
NM_001135637.1	511	Missense Mutation	GCG,GTG	A20V	NP_001129109.1
NM_001135638.1	511	Missense Mutation	GCG,GTG	A20V	NP_001129110.1
NM_003557.2	511	Missense Mutation	GCG,GTG	A20V	NP_003548.1
XM_005245525.4	511	Missense Mutation	GCG,GTG	A20V	XP_005245582.1
XM_005245527.3	511	Missense Mutation	GCG,GTG	A20V	XP_005245584.1
XM_005245528.4	511	Missense Mutation	GCG,GTG	A20V	XP_005245585.1
XM_005245530.4	511	Intron			XP_005245587.1
XM_005245531.3	511	Missense Mutation	GCG,GTG	A20V	XP_005245588.1
XM_005245532.3	511	Intron			XP_005245589.1
XM_006711563.3	511	Missense Mutation	GCG,GTG	A20V	XP_006711626.1
XM_006711564.3	511	Missense Mutation	GCG,GTG	A20V	XP_006711627.1
XM_006711567.3	511	Intron			XP_006711630.1
XM_006711568.3	511	Intron			XP_006711631.2
XM_011510043.2	511	Intron			XP_011508345.1
XM_011510045.2	511	Intron			XP_011508347.1
XM_011510046.2	511	UTR 5			XP_011508348.1
XM_011510048.2	511	Intron			XP_011508350.1
XM_011510049.2	511	Intron			XP_011508351.1
XM_017002439.1	511	Intron			XP_016857928.1
XM_017002440.1	511	Intron			XP_016857929.1
XM_017002441.1	511	Intron			XP_016857930.1

Gene

VPS72

Gene Name

vacuolar protein sorting 72 homolog

There are no transcripts associated with this gene.

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