Product Details

SNP ID

rs139924114

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:81659438 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATTCTATTATTTGCAGCAATTAC[C/T]CTTCGTGACATCAAATCAAATGGTC

Phenotype

MIM: 602064

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IMPA1 PubMed Links

Gene Details

Gene

IMPA1

Gene Name

inositol monophosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144878.1	1075	Silent Mutation	AGA,AGG	R308R	NP_001138350.1
NM_001144879.1	1075	UTR 3			NP_001138351.1
NM_005536.3	1075	Silent Mutation	AGA,AGG	R249R	NP_005527.1

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