Product Details

SNP ID
rs61731036
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:24699183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAAACAAGCGCTGCACAATCCCA[A/T]ACCTTTCTGTATCTTTCAGGGGAGT
Phenotype
MIM: 608798 MIM: 606959
Polymorphism
A/T, Transversion 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 1667 Missense Mutation TAT,TTT Y445F NP_001120925.1
NM_001127454.1 1667 Missense Mutation TAT,TTT Y281F NP_001120926.1
NM_004403.2 1667 Missense Mutation TAT,TTT Y445F NP_004394.1
XM_017011802.1 1667 Missense Mutation TAT,TTT Y281F XP_016867291.1
Gene
MPP6
Gene Name
membrane palmitoylated protein 6
There are no transcripts associated with this gene.

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