Product Details

SNP ID

rs11119748

Assay Type

Functionally tested

NCBI dbSNP Submissions

40

Location

Chr.1:211478843 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGGCGGTGCCGCTCTACGACCTAA[C/G]TCAGCTTTGTGGCCAGAGGAAGAGG

Phenotype

MIM: 180040

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RD3 PubMed Links

Gene Details

Gene

RD3

Gene Name

retinal degeneration 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164688.1	1312	UTR 3			NP_001158160.1
NM_183059.2	1312	UTR 3			NP_898882.1
XM_017001151.1	1312	UTR 3			XP_016856640.1

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