Product Details

SNP ID
rs146206891
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64950363 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCTTCCCACCTGCCGTTTCTGCT[C/T]CTCATCAGCCTTATTCCCAATAAGG
Phenotype
MIM: 138319
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CHURC1-FNTB PubMed Links

Gene Details

Gene
CHURC1-FNTB
Gene Name
CHURC1-FNTB readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001202558.1 588 Intron NP_001189487.1
NM_001202559.1 588 Intron NP_001189488.1
Gene
GPX2
Gene Name
glutathione peroxidase 2
There are no transcripts associated with this gene.

Gene
RAB15
Gene Name
RAB15, member RAS oncogene family
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308154.1 588 Missense Mutation AAG,GAG K126E NP_001295083.1
NM_198686.2 588 Silent Mutation AGA,AGG R169R NP_941959.1
XM_017021277.1 588 Missense Mutation AAG,GAG K80E XP_016876766.1

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