Product Details

SNP ID

rs143136523

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82032998 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAGCCCGGCCTCCTTCGAGAAT[A/G]TTCGTGCCAAGGTAGGGCAAGGCTG

Phenotype

MIM: 608347 MIM: 602050

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DCXR PubMed Links

Gene Details

Gene

DCXR

Gene Name

dicarbonyl and L-xylulose reductase

There are no transcripts associated with this gene.

Gene

LRRC45

Gene Name

leucine rich repeat containing 45

There are no transcripts associated with this gene.

Gene

RAC3

Gene Name

ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316307.1	383	Missense Mutation	ATT,GTT	I93V	NP_001303236.1
NM_005052.2	383	Missense Mutation	ATT,GTT	I93V	NP_005043.1

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