Product Details

SNP ID

rs138740542

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57758568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTATTCCTATTGCTCAGGCCTC[A/C]TCATCCATGAAGGCTCCTCTGTCTA

Phenotype

MIM: 123829 MIM: 609506 MIM: 613336 MIM: 604466

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CDK4 PubMed Links

Gene Details

Gene

CDK4

Gene Name

cyclin dependent kinase 4

There are no transcripts associated with this gene.

Gene

CYP27B1

Gene Name

cytochrome P450 family 27 subfamily B member 1

There are no transcripts associated with this gene.

Gene

MARCH9

Gene Name

membrane associated ring-CH-type finger 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138396.5	1143	Missense Mutation	ATC,CTC	I238L	NP_612405.2

Gene

METTL1

Gene Name

methyltransferase like 1

There are no transcripts associated with this gene.

Gene

MIR6759

Gene Name

microRNA 6759

There are no transcripts associated with this gene.

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