Product Details

SNP ID

rs184816863

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:44776628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCAGGTTCCTCTCCCTCACTTG[A/C]CTTGCTCTCCTTGGTAACCTAGTTC

Phenotype

MIM: 607336 MIM: 604538 MIM: 600357

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

KIF2C

Gene Name

kinesin family member 2C

There are no transcripts associated with this gene.

Gene

RPS8

Gene Name

ribosomal protein S8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012.1		Intron			NP_001003.1

Gene

SNORD38A

Gene Name

small nucleolar RNA, C/D box 38A

There are no transcripts associated with this gene.

Gene

SNORD38B

Gene Name

small nucleolar RNA, C/D box 38B

There are no transcripts associated with this gene.

Gene

SNORD46

Gene Name

small nucleolar RNA, C/D box 46

There are no transcripts associated with this gene.

Gene

SNORD55

Gene Name

small nucleolar RNA, C/D box 55

There are no transcripts associated with this gene.

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