Product Details

SNP ID
rs199862207
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6557546 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGCTGCTGCTTTGTCTTTGCA[A/G]CCCCCTTGGCTTTCTTGGCTGGCTG
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
There are no transcripts associated with this gene.

Gene
NOP2
Gene Name
NOP2 nucleolar protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033714.2 2004 Missense Mutation GCT,GTT A625V NP_001028886.1
NM_001258308.1 2004 Missense Mutation GCT,GTT A629V NP_001245237.1
NM_001258309.1 2004 Missense Mutation GCT,GTT A662V NP_001245238.1
NM_001258310.1 2004 UTR 3 NP_001245239.1
NM_006170.3 2004 Missense Mutation GCT,GTT A625V NP_006161.2
XM_005253691.1 2004 Missense Mutation GCT,GTT A629V XP_005253748.1

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