Product Details

SNP ID
rs201217491
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48059202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATGTATAATGAGCTGTGTTTTCC[A/G]AGGGAAGGTCTTCCCACATTCAGTA
Phenotype
MIM: 300819
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ZNF630 PubMed Links

Gene Details

Gene
ZNF630
Gene Name
zinc finger protein 630
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037735.3 1803 Missense Mutation CGG,TGG R414W NP_001032824.2
NM_001190255.2 1803 Missense Mutation CGG,TGG R400W NP_001177184.1
NM_001282201.1 1803 Missense Mutation CGG,TGG R414W NP_001269130.1
NM_001282202.1 1803 Missense Mutation CGG,TGG R290W NP_001269131.1
Gene
ZNF630-AS1
Gene Name
ZNF630 antisense RNA 1
There are no transcripts associated with this gene.

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