Product Details

SNP ID
rs148824063
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:24699112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGACTTTAGAGTCCTTCAGAATGA[C/T]AGCTTTCACAGATGACTTCAGTCTC
Phenotype
MIM: 608798 MIM: 606959
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DFNA5 PubMed Links

Gene Details

Gene
DFNA5
Gene Name
DFNA5, deafness associated tumor suppressor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127453.1 1738 Missense Mutation ATC,GTC I469V NP_001120925.1
NM_001127454.1 1738 Missense Mutation ATC,GTC I305V NP_001120926.1
NM_004403.2 1738 Missense Mutation ATC,GTC I469V NP_004394.1
XM_017011802.1 1738 Missense Mutation ATC,GTC I305V XP_016867291.1
Gene
MPP6
Gene Name
membrane palmitoylated protein 6
There are no transcripts associated with this gene.

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