Product Details

SNP ID

rs200563007

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:36135249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGGCCAACAGGGGCATCGGCTT[G/T]GCCATCGCGCGCGAACTGTGCCGAC

Phenotype

MIM: 603608

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CBR3 PubMed Links

Gene Details

Gene

CBR3

Gene Name

carbonyl reductase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001236.3	349	Missense Mutation	TTG,TTT	L19F	NP_001227.1
XM_011529772.2	349	Missense Mutation	TTG,TTT	L19F	XP_011528074.1

Gene

CBR3-AS1

Gene Name

CBR3 antisense RNA 1

There are no transcripts associated with this gene.

Gene

LOC100133286

Gene Name

uncharacterized LOC100133286

There are no transcripts associated with this gene.

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