Product Details

SNP ID
rs182875583
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6560176 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCCATCCATATTGTGGGTATGAG[G/T]GTAGAAGCGTCGGGTAGAACGCAGA
Phenotype
MIM: 603277 MIM: 610495 MIM: 164031
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CHD4 PubMed Links

Gene Details

Gene
CHD4
Gene Name
chromodomain helicase DNA binding protein 4
There are no transcripts associated with this gene.

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 1829 Missense Mutation ACT,CCT T567P NP_001028886.1
NM_001258308.1 1829 Missense Mutation ACT,CCT T571P NP_001245237.1
NM_001258309.1 1829 Missense Mutation ACT,CCT T604P NP_001245238.1
NM_001258310.1 1829 Missense Mutation ACT,CCT T567P NP_001245239.1
NM_006170.3 1829 Missense Mutation ACT,CCT T567P NP_006161.2
XM_005253691.1 1829 Missense Mutation ACT,CCT T571P XP_005253748.1

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