Product Details

SNP ID

rs201119972

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:54999275 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTACGTTCCTCATGAGCCATGATC[A/G]GCCCCAGGTCTACGGCACCTTCTAT

Phenotype

MIM: 606412

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BSND PubMed Links

Gene Details

Gene

BSND

Gene Name

barttin CLCNK type accessory beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_057176.2	332	Missense Mutation	CAG,CGG	Q30R	NP_476517.1

Gene

TMEM61

Gene Name

transmembrane protein 61

There are no transcripts associated with this gene.

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