Product Details

SNP ID

rs140199593

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:44801630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTGGCTCTCTGCAGTCCCTGGC[A/C]CACATCTGGAAGGCCCGGCACACCC

Phenotype

MIM: 607336 MIM: 602913 MIM: 611713

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BEST4 PubMed Links

Gene Details

Gene

BEST4

Gene Name

bestrophin 4

There are no transcripts associated with this gene.

Gene

BTBD19

Gene Name

BTB domain containing 19

There are no transcripts associated with this gene.

Gene

PLK3

Gene Name

polo like kinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004073.3	683	Silent Mutation	GCA,GCC	A148A	NP_004064.2

Gene

TCTEX1D4

Gene Name

Tctex1 domain containing 4

There are no transcripts associated with this gene.

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