Product Details

SNP ID
rs62395251
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:179560106 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCATCAAGGTGTTGCTCCAGTCGG[A/C]TCTGAGCCTGGGCCGCAGCCTGGAT
Phenotype
MIM: 610327
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
RUFY1 PubMed Links

Gene Details

Gene
RUFY1
Gene Name
RUN and FYVE domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040451.2 401 Missense Mutation GAT,GCT D23A NP_001035541.1
NM_001040452.2 401 Missense Mutation GAT,GCT D23A NP_001035542.1
NM_025158.4 401 Missense Mutation GAT,GCT D131A NP_079434.3
XM_005265993.4 401 Intron XP_005266050.1
XM_006714921.3 401 Missense Mutation GAT,GCT D131A XP_006714984.2
XM_006714922.3 401 Intron XP_006714985.1
XM_017009891.1 401 Missense Mutation GAT,GCT D23A XP_016865380.1
XM_017009892.1 401 Intron XP_016865381.1
XM_017009893.1 401 Intron XP_016865382.1
XM_017009894.1 401 UTR 5 XP_016865383.1
XM_017009895.1 401 UTR 5 XP_016865384.1

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