UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CIP1
HGNC Symbol:SLC12A9
HGNC Description:solute carrier family 12, member 9
HGNC ID:17435
Superfamily:SLC
Chromosome:Chr.7(+): 100450337-100464634 GRCh37
Location:7q22
OMIM:
OMIM Phenotype:None
Accessions:AF284422,AK024494,BG818005,BI554206,BM921877
Nucleotide RefSeq:NM_020246
Protein RefSeq:NP_064631
Entrez:56996
Ensembl:ENSG00000146828
Isoforms:6
Evidence:None
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA134921585
HPRD ID:11564
Substrates:None
Trivial Names:CCC6, CIP1, WO3.3, hCCC6
Transcripts:NM_020246.3 [Chr.7(+): 100450341-100464634 GRCh37]
XM_005250502.1 [Chr.7(+): 100450337-100464634 GRCh37]
XM_005250503.1 [Chr.7(+): 100450337-100464634 GRCh37]
NM_001267814.1 [Chr.7(+): 100450341-100463160 GRCh37]
NM_001267812.1 [Chr.7(+): 100450341-100463160 GRCh37]
XM_005250504.1 [Chr.7(+): 100456457-100464634 GRCh37]
ENST00000275729 [Chr.7(+): 100450358-100463007 GRCh37]
ENST00000354161 [Chr.7(+): 100450375-100464630 GRCh37]
ENST00000415287 [Chr.7(+): 100450359-100463157 GRCh37]
ENST00000416675 [Chr.7(+): 100450399-100458852 GRCh37]
ENST00000418037 [Chr.7(+): 100450355-100458802 GRCh37]
ENST00000428758 [Chr.7(+): 100450358-100463007 GRCh37]
ENST00000434158 [Chr.7(+): 100450908-100453397 GRCh37]
ENST00000448342 [Chr.7(+): 100450342-100458884 GRCh37]
ENST00000461016 [Chr.7(+): 100424442-100457540 GRCh37]
ENST00000462106 [Chr.7(+): 100450368-100453550 GRCh37]
ENST00000467972 [Chr.7(+): 100454416-100464631 GRCh37]
ENST00000475623 [Chr.7(+): 100456659-100458566 GRCh37]
ENST00000475687 [Chr.7(+): 100453063-100464631 GRCh37]
ENST00000482184 [Chr.7(+): 100459142-100463177 GRCh37]
ENST00000487651 [Chr.7(+): 100456358-100464631 GRCh37]
ENST00000497958 [Chr.7(+): 100454652-100458086 GRCh37]
ENST00000540482 [Chr.7(+): 100450341-100462980 GRCh37]
Annotation History:View Events (50)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC12A9.

Variant Data

View all PMT variants for SLC12A9 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.