Product Details

SNP ID

rs201304555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56952048 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGCTTCATAGAGCCTTGGCCGGG[C/T]TTGGAGAGACCCAGTACATAATGGC

Phenotype

Polymorphism

C/T, Transition 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	2847	Missense Mutation	AAC,AGC	N167S	NP_001307037.1
NM_003708.4	2847	Missense Mutation	AAC,AGC	N312S	NP_003699.3

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