Product Details

SNP ID

rs75983701

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:41319676 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTCACCACACCATTTTGTCACTG[A/G]AAAGGCAGAAGTGACCTCTCAAGGC

Phenotype

MIM: 606020

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

OIP5 PubMed Links

Gene Details

Gene

OIP5

Gene Name

Opa interacting protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317860.1	554	Intron			NP_001304789.1
NM_007280.1	554	Missense Mutation	TCC,TTC	S165F	NP_009211.1

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