Product Details

SNP ID

rs3208368

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1496102 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCACCACAGAACGCAGACTGTT[G/T]CTGTAGTAACAGAGGAGAAACTCAT

Phenotype

MIM: 607875 MIM: 606538

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

INPP5K PubMed Links

Gene Details

Gene

INPP5K

Gene Name

inositol polyphosphate-5-phosphatase K

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135642.1	1417	Missense Mutation	AGA,AGC	R340S	NP_001129114.1
NM_016532.3	1417	Missense Mutation	AGA,AGC	R416S	NP_057616.2
NM_130766.2	1417	Missense Mutation	AGA,AGC	R340S	NP_570122.1
XM_005256683.2	1417	Missense Mutation	AGA,AGC	R340S	XP_005256740.1
XM_005256685.1	1417	Missense Mutation	AGA,AGC	R324S	XP_005256742.1
XM_005256686.1	1417	Missense Mutation	AGA,AGC	R324S	XP_005256743.1
XM_011523934.1	1417	Missense Mutation	AGA,AGC	R340S	XP_011522236.1
XM_011523936.2	1417	Missense Mutation	AGA,AGC	R281S	XP_011522238.1
XM_017024755.1	1417	Missense Mutation	AGA,AGC	R340S	XP_016880244.1
XM_017024756.1	1417	Missense Mutation	AGA,AGC	R340S	XP_016880245.1
XM_017024757.1	1417	Missense Mutation	AGA,AGC	R324S	XP_016880246.1
XM_017024758.1	1417	Missense Mutation	AGA,AGC	R281S	XP_016880247.1
XM_017024759.1	1417	Missense Mutation	AGA,AGC	R281S	XP_016880248.1

Gene

MYO1C

Gene Name

myosin IC

There are no transcripts associated with this gene.

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