Product Details

SNP ID

rs146723849

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:132785102 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTCTCGGCGTCCGAGTCCTGCTT[A/C]TTCTTGGCCGACGCCATCTCCACCG

Phenotype

MIM: 600106 MIM: 605955

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

INPP5A PubMed Links

Gene Details

Gene

INPP5A

Gene Name

inositol polyphosphate-5-phosphatase A

There are no transcripts associated with this gene.

Gene

NKX6-2

Gene Name

NK6 homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_177400.2	727	Missense Mutation	AAG,AAT	K216N	NP_796374.1
XM_017016789.1	727	Missense Mutation	AAG,AAT	K216N	XP_016872278.1

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