Product Details

SNP ID

rs147902769

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218823845 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGGGAGACCACGCCCAAGAGAT[A/G]CTGGGTCTCGTCCACTAGCACCAGC

Phenotype

MIM: 606530 MIM: 604976

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CYP27A1 PubMed Links

Gene Details

Gene

CYP27A1

Gene Name

cytochrome P450 family 27 subfamily A member 1

There are no transcripts associated with this gene.

Gene

MIR9500

Gene Name

microRNA 9500

There are no transcripts associated with this gene.

Gene

PRKAG3

Gene Name

protein kinase AMP-activated non-catalytic subunit gamma 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017431.2	1406	Missense Mutation	CAT,TAT	H463Y	NP_059127.2
XM_017004343.1	1406	Missense Mutation	CAT,TAT	H463Y	XP_016859832.1

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