Product Details

SNP ID

rs145781732

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:18678523 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTCCATGTCTCTGCTCTCCTTT[A/G]TAATACAGTTCTTAGATTGGTCTGG

Phenotype

MIM: 300109 MIM: 300839

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPEF1 PubMed Links

Gene Details

Gene

PPEF1

Gene Name

protein phosphatase with EF-hand domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006240.2		Intron			NP_006231.2
NM_152224.1		Intron			NP_689410.1
NM_152226.1		Intron			NP_689412.1
XM_005274553.2		Intron			XP_005274610.1
XM_017029612.1		Intron			XP_016885101.1

Gene

RS1

Gene Name

retinoschisin 1

There are no transcripts associated with this gene.

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