Product Details

SNP ID
rs150150700
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:34752560 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCAGGTCCTTGTTACGAATCTCA[A/T]AGATTGACTTTCTCTTGGCCTGAGC
Phenotype
MIM: 607058
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GJD2 PubMed Links

Gene Details

Gene
GJD2
Gene Name
gap junction protein delta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020660.2 977 Missense Mutation TAT,TTT Y295F NP_065711.1
XM_017022438.1 977 Missense Mutation TAT,TTT Y244F XP_016877927.1
Gene
LOC101928174
Gene Name
uncharacterized LOC101928174
There are no transcripts associated with this gene.

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