Product Details

SNP ID
rs143715285
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17281799 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCGCGGGGCAGCCTGGCTGGGAA[C/T]CCTGCTCGGCCCTGGAGAGGGGCCC
Phenotype
MIM: 612766
Polymorphism
C/T, Transition 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_001278443.1 155 Missense Mutation ACC,ATC T14I NP_001265372.1
NM_001278444.1 155 Missense Mutation ACC,ATC T14I NP_001265373.1
NM_001278445.1 155 UTR 5 NP_001265374.1
NM_152363.5 155 Missense Mutation ACC,ATC T14I 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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