Product Details

SNP ID

rs144087608

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:36137888 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTGAAGACAAATTTTTTTGCCA[C/T]TAGAAACATGTGCAACGAGTTACTG

Phenotype

MIM: 603608

Polymorphism

C/T, Transition 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	645	Missense Mutation	ACT,ATT	T118I	NP_001227.1
XM_011529772.2	645	Missense Mutation	ACT,ATT	T118I	XP_011528074.1

Gene

CBR3-AS1

Gene Name

CBR3 antisense RNA 1

There are no transcripts associated with this gene.

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