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SNP ID

rs200373622

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40363680 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACACGAACTCCTCTTGCTCGTCCT[C/G]GAACACGGCGCCGCCCACCGTGGCC

Phenotype

MIM: 607425 MIM: 180240

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GJD3 PubMed Links

Gene Details

Gene

GJD3

Gene Name

gap junction protein delta 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152219.3	1014	Missense Mutation	CAG,GAG	Q46E	NP_689343.3

Gene

RARA

Gene Name

retinoic acid receptor alpha

There are no transcripts associated with this gene.

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