Product Details

SNP ID
hCV27859814
Assay Type
DME
NCBI dbSNP Submissions
NA
Location
Chr.12:57763236 on Build GRCh38
Set Membership
DME Validated Inventoried
Context Sequence [VIC/FAM]
TGGGGCCGCACCTGGCTCAGGCTGC[A/C]CCTCAAAATGTGTTAGGATCTGGAA
Phenotype
MIM: 609506 MIM: 613336 MIM: 604466 MIM: 615258
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
CYP27B1 PubMed Links

Gene Details

Gene
CYP27B1
Gene Name
cytochrome P450 family 27 subfamily B member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000785.3 1585 Missense Mutation GGG,GTG G478V NP_000776.1
Gene
MARCH9
Gene Name
membrane associated ring-CH-type finger 9
There are no transcripts associated with this gene.

Gene
METTL1
Gene Name
methyltransferase like 1
There are no transcripts associated with this gene.

Gene
METTL21B
Gene Name
methyltransferase like 21B
There are no transcripts associated with this gene.

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