Product Details

SNP ID

rs115865539

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:24698954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATTTCATTGGTCAACTTTTAAC[A/G]TGCATATGACCTTTAACAGTTCTGA

Phenotype

MIM: 608798 MIM: 606959

Polymorphism

A/G, 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	1896	UTR 3			NP_001120925.1
NM_001127454.1	1896	UTR 3			NP_001120926.1
NM_004403.2	1896	UTR 3			NP_004394.1
XM_017011802.1	1896	UTR 3			XP_016867291.1

Gene

MPP6

Gene Name

membrane palmitoylated protein 6

There are no transcripts associated with this gene.

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