Product Details

SNP ID

rs61749667

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8003336 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCTGGCAGGCGGTCCCCGCTTC[C/G]AGGTAGCGCTGCTGCCCGAGCCTTG

Phenotype

MIM: 600179

Polymorphism

C/G, Transversion 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	289	Missense Mutation	CAG,GAG	Q97E	NP_000171.1
XM_011523816.1	289	Missense Mutation	CAG,GAG	Q97E	XP_011522118.1

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