Product Details

SNP ID

rs7211240

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1520250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAAATGTCACTTGGAAATAAAGG[C/T]TGGGGGAACACACAGAAATGGATCG

Phenotype

MIM: 607875 MIM: 600174

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

INPP5K PubMed Links

Gene Details

Gene

INPP5K

Gene Name

inositol polyphosphate-5-phosphatase K

There are no transcripts associated with this gene.

Gene

PITPNA

Gene Name

phosphatidylinositol transfer protein alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006224.3	1380	UTR 3			NP_006215.1
XM_011523939.1	1380	UTR 3			XP_011522241.1
XM_011523940.1	1380	UTR 3			XP_011522242.1

Gene

PITPNA-AS1

Gene Name

PITPNA antisense RNA 1

There are no transcripts associated with this gene.

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