Product Details

SNP ID

rs5930347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:129539333 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCCACACGCTGCATATCAACCTTC[C/T]GTATATGTGTGGTCTGTTTGAGGGG

Phenotype

MIM: 300535

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

OCRL PubMed Links

Gene Details

Gene

OCRL

Gene Name

OCRL, inositol polyphosphate-5-phosphatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000276.3		Intron			NP_000267.2
NM_001318784.1		Intron			NP_001305713.1
NM_001587.3		Intron			NP_001578.2
XM_005262422.2		Intron			XP_005262479.1
XM_011531344.2		Intron			XP_011529646.1
XM_011531345.2		Intron			XP_011529647.1
XM_017029554.1		Intron			XP_016885043.1

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