Product Details

SNP ID

rs11693993

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:208360498 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

GACCCGGCTGAGACTGTGCTTGTGC[A/G]GCGAGTGGAGGCCGCTCCCGGGGCC

Phenotype

MIM: 609414 MIM: 601469

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PIKFYVE PubMed Links

Gene Details

Gene

PIKFYVE

Gene Name

phosphoinositide kinase, FYVE-type zinc finger containing

There are no transcripts associated with this gene.

Gene

PTH2R

Gene Name

parathyroid hormone 2 receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001309516.1		Intron			NP_001296445.1
NM_005048.3		Intron			NP_005039.1

View Full Product Details