Product Details

SNP ID

rs143745703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8003979 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGCCCTTCGACACGATCCACTA[C/T]GCCTTGTCCCCAGGCCCGGAGGCCT

Phenotype

MIM: 600179

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GUCY2D PubMed Links

Gene Details

Gene

GUCY2D

Gene Name

guanylate cyclase 2D, retinal

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000180.3	849	Silent Mutation	TAC,TAT	Y283Y	NP_000171.1
XM_011523816.1	849	Nonsense Mutation	TAC,TAT	Y283Y	XP_011522118.1

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