Product Details

SNP ID

rs118204011

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.12:57764487 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

AGGGCAGCTGTGATCTCTGAGTGGA[A/G]TGCTGTCTGGACTTCGGGGTGCCGG

Phenotype

MIM: 609506 MIM: 613336 MIM: 604466 MIM: 615258

Polymorphism

A/G, Transition 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	1179	Missense Mutation	CTC,TTC	L343F	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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