Product Details

SNP ID

rs61749673

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8004065 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCACGATGCCGTGCTCACCCTCA[C/T]GCGCCACTGTCCCTCTGAAGGCAGC

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	935	Missense Mutation	ACG,ATG	T312M	NP_000171.1
XM_011523816.1	935	Missense Mutation	ACG,ATG	T312M	XP_011522118.1

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