Product Details

SNP ID
rs191788197
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17281896 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGTAGGAAATCGACCGACCAGGC[C/G]GTGCGCTTCGGACCCAGCCAGGGCA
Phenotype
MIM: 612766
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ANKLE1 PubMed Links

Gene Details

Gene
ANKLE1
Gene Name
ankyrin repeat and LEM domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278443.1 252 Silent Mutation GCC,GCG A46A NP_001265372.1
NM_001278444.1 252 Silent Mutation GCC,GCG A46A NP_001265373.1
NM_001278445.1 252 Missense Mutation CCG,CGG P16R NP_001265374.1
NM_152363.5 252 Silent Mutation GCC,GCG A46A NP_689576.5
Gene
BABAM1
Gene Name
BRISC and BRCA1 A complex member 1
There are no transcripts associated with this gene.

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