Product Details

SNP ID

rs139020643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56952910 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCTCCAGGAAGCTCTTTAAGAAT[A/C]TCTCCTTACTGGTCACAGCAGTCTT

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RDH16 PubMed Links

Gene Details

Gene

RDH16

Gene Name

retinol dehydrogenase 16 (all-trans)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320108.1	2565	Missense Mutation	AGA,ATA	R73I	NP_001307037.1
NM_003708.4	2565	Missense Mutation	AGA,ATA	R218I	NP_003699.3

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