Product Details

SNP ID

rs116280380

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10013577 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAACTTGCAGTGCAACTGGCCC[A/G]TGACCCCAAGAAGCGCTACCAGGGT

Phenotype

MIM: 120216 MIM: 608575

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL5A3 PubMed Links

Gene Details

Gene

COL5A3

Gene Name

collagen type V alpha 3

There are no transcripts associated with this gene.

Gene

RDH8

Gene Name

retinol dehydrogenase 8 (all-trans)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015725.2	329	Missense Mutation	CAT,CGT	H47R	NP_056540.2

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