2q21.1 Copy Number Variation - CNVs Booklet

2q21.1 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr2:131481308-131930677

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Disorder Information from Orphanet

This CNV is not yet linked to an OrphaCode.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
GPR148 G protein-coupled receptor 148 344561 ENSG00000173302 Q8TDV2
AMER3 APC membrane recruitment protein 3 205147 ENSG00000178171 Q8N944
ARHGEF4 Rho guanine nucleotide exchange factor 4 50649 ENSG00000136002 Q9NR80
FAM168B family with sequence similarity 168 member B 130074 ENSG00000152102 A1KXE4
PLEKHB2 pleckstrin homology domain containing B2 55041 ENSG00000115762 Q96CS7