Product Details

SNP ID: rs115566777
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:132844112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAGGCCACAGCAGTAACACAGAAC[A/G]GTGTCTCCCGTGACTCTGTAATCTG
Phenotype: MIM: 605209
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CHFR PubMed Links

Gene Details

Gene: CHFR
Gene Name: checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161344.1	1755	Silent Mutation	ACC,ACT	T598T	NP_001154816.1
NM_001161345.1	1755	Silent Mutation	ACC,ACT	T597T	NP_001154817.1
NM_001161346.1	1755	Silent Mutation	ACC,ACT	T586T	NP_001154818.1
NM_001161347.1	1755	Silent Mutation	ACC,ACT	T506T	NP_001154819.1
NM_018223.2	1755	Silent Mutation	ACC,ACT	T557T	NP_060693.2