Product Details

SNP ID

rs3829789

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8003871 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCAGCAGTGATCATGGTGATGCA[C/T]TCGGTGCTGCTGGGTGGCGAGGAGC

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	741	Silent Mutation	CAC,CAT	H247H	NP_000171.1
XM_011523816.1	741	Silent Mutation	CAC,CAT	H247H	XP_011522118.1

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