Product Details

SNP ID
rs76100696
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:132728132 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTCTGCACATTCAAGAGCGGCCA[A/C]AACATCCTGATCGAGTTTTGATGGC
Phenotype
MIM: 616062 MIM: 614939
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ANKLE2 PubMed Links

Gene Details

Gene
ANKLE2
Gene Name
ankyrin repeat and LEM domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015114.2 1924 Missense Mutation GTG,TTG V839L NP_055929.1
XM_005266159.3 1924 Missense Mutation GTG,TTG V777L XP_005266216.1
XM_005266160.1 1924 Missense Mutation GTG,TTG V777L XP_005266217.1
XM_006719735.1 1924 Missense Mutation TTG,TTT L641F XP_006719798.1
XM_011534787.2 1924 Intron XP_011533089.1
XM_011534788.1 1924 Intron XP_011533090.1
XM_017019076.1 1924 Missense Mutation GTG,TTG V402L XP_016874565.1
Gene
PGAM5
Gene Name
PGAM family member 5, mitochondrial serine/threonine protein phosphatase
There are no transcripts associated with this gene.

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