Product Details

SNP ID
rs148057686
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:97572849 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGCCACAGCGCTCATCGAGCAG[C/T]GGCTGGCACAGGAGGAGGAGAATGA
Phenotype
MIM: 610734 MIM: 616388
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKRD2 PubMed Links

Gene Details

Gene
ANKRD2
Gene Name
ankyrin repeat domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001129981.2 409 Missense Mutation CGG,TGG R48W NP_001123453.1
NM_001291218.1 409 Missense Mutation CGG,TGG R134W NP_001278147.1
NM_001291219.1 409 Missense Mutation CGG,TGG R134W NP_001278148.1
NM_020349.3 409 Missense Mutation CGG,TGG R48W NP_065082.2
Gene
UBTD1
Gene Name
ubiquitin domain containing 1
There are no transcripts associated with this gene.

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