Product Details

SNP ID
rs199538833
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6557028 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGCTGGCTGTTGCCCCTGGACT[A/G]AGATTTCTTCCTCTTTGCTGGTGGG
Phenotype
MIM: 610495 MIM: 164031
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IFFO1 PubMed Links

Gene Details

Gene
IFFO1
Gene Name
intermediate filament family orphan 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039670.2 2522 Intron NP_001034759.1
NM_001193457.1 2522 Intron NP_001180386.1
NM_080730.4 2522 Intron NP_542768.2
XM_006718975.3 2522 Intron XP_006719038.1
XM_006718976.3 2522 Intron XP_006719039.1
XM_006718977.3 2522 Intron XP_006719040.1
XM_006718981.3 2522 Intron XP_006719044.1
XM_011520947.2 2522 Intron XP_011519249.1
XM_011520948.2 2522 Intron XP_011519250.1
XM_011520949.2 2522 Intron XP_011519251.1
XM_011520952.2 2522 Intron XP_011519254.1
XM_017019169.1 2522 Intron XP_016874658.1
XM_017019170.1 2522 Intron XP_016874659.1
XM_017019171.1 2522 Intron XP_016874660.1
XM_017019172.1 2522 Intron XP_016874661.1
XM_017019173.1 2522 Intron XP_016874662.1
Gene
NOP2
Gene Name
NOP2 nucleolar protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033714.2 2522 Nonsense Mutation CAG,TAG Q798* NP_001028886.1
NM_001258308.1 2522 Nonsense Mutation CAG,TAG Q802* NP_001245237.1
NM_001258309.1 2522 Nonsense Mutation CAG,TAG Q835* NP_001245238.1
NM_001258310.1 2522 UTR 3 NP_001245239.1
NM_006170.3 2522 Nonsense Mutation CAG,TAG Q798* NP_006161.2
XM_005253691.1 2522 Nonsense Mutation CAG,TAG Q802* XP_005253748.1

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