Product Details

SNP ID

rs74723244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:132717867 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGCAAAGCGGCCCTGCTGGGCT[C/T]ACCATCCACCACGTGCCCGGCCGTC

Phenotype

MIM: 616062 MIM: 614939

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKLE2 PubMed Links

Gene Details

Gene

ANKLE2

Gene Name

ankyrin repeat and LEM domain containing 2

There are no transcripts associated with this gene.

Gene

PGAM5

Gene Name

PGAM family member 5, mitochondrial serine/threonine protein phosphatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170543.1		Intron			NP_001164014.1
NM_001170544.1		Intron			NP_001164015.1
NM_138575.3		Intron			NP_612642.2

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