SLC20A2 gene homepage - Coppola Lab - PFBC Variant Database

Coppola Lab - PFBC Variant Database

SLC20A2 (solute carrier family 20 (phosphate trans...))

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curators: Coppola Lab UCLA (EMR) and Coppola Lab UCLA (Andrea Legati)

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SLC20A2 gene homepage

General information
Gene symbol	SLC20A2
Gene name	solute carrier family 20 (phosphate transporter), member 2
Chromosome	8
Chromosomal band	p11.21
Imprinted	Unknown
Genomic reference	NG_032161.1
Transcript reference	NM_006749.4
Associated with diseases	IBGC1
Citation reference(s)	-
Curators (2)	Coppola Lab UCLA (EMR) and Coppola Lab UCLA (Andrea Legati)
Total number of public variants reported	186
Unique public DNA variants reported	135
Individuals with public variants	1
Hidden variants	0
Date created	July 24, 2013
Date last updated	January 26, 2021
Version	SLC20A2:210126

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	10947
Entrez Gene	6575
PubMed articles	SLC20A2
OMIM - Gene	158378
OMIM - Diseases	IBGC1 (idiopathic basal ganglia calcification, type 1)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000003	8	transcript variant 2	NM_006749.4	NP_006740.1	186

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