UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC44A2
HGNC Description:solute carrier family 44 (choline transporter), member 2
HGNC ID:17292
Superfamily:SLC
Chromosome:Chr.19(+): 10713121-10755235 GRCh37
Location:19p13.1
OMIM:606106
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_020428
Protein RefSeq:NP_065161
Entrez:57153
Ensembl:ENSG00000129353
Isoforms:5
Evidence:None
Tissues:None
Type:protein-coding
Sets:None
PharmGKB ID:
HPRD ID:16198
Substrates:None
Trivial Names:CTL2, PP1292
Transcripts:NM_001145056.1 [Chr.19(+): 10713121-10755235 GRCh37]
NM_020428.3 [Chr.19(+): 10736171-10755235 GRCh37]
XM_005259999.1 [Chr.19(+): 10713121-10755233 GRCh37]
XM_005259998.1 [Chr.19(+): 10736171-10755233 GRCh37]
XM_005259997.1 [Chr.19(+): 10736171-10755233 GRCh37]
ENST00000335757 [Chr.19(+): 10735934-10755235 GRCh37]
ENST00000407327 [Chr.19(+): 10713186-10755226 GRCh37]
ENST00000586078 [Chr.19(+): 10736201-10755233 GRCh37]
ENST00000586549 [Chr.19(+): 10748420-10754806 GRCh37]
ENST00000588214 [Chr.19(+): 10747602-10753061 GRCh37]
ENST00000588393 [Chr.19(+): 10742382-10748378 GRCh37]
ENST00000588409 [Chr.19(+): 10736270-10745910 GRCh37]
ENST00000588465 [Chr.19(+): 10713133-10747172 GRCh37]
ENST00000588688 [Chr.19(+): 10736196-10742397 GRCh37]
ENST00000589561 [Chr.19(+): 10746480-10755231 GRCh37]
ENST00000590382 [Chr.19(+): 10713133-10742594 GRCh37]
ENST00000590475 [Chr.19(+): 10753012-10754074 GRCh37]
ENST00000590857 [Chr.19(+): 10736196-10742380 GRCh37]
ENST00000591194 [Chr.19(+): 10748320-10754204 GRCh37]
ENST00000592293 [Chr.19(+): 10736270-10742832 GRCh37]
Annotation History:View Events (28)

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 SLC44A2.

Variant Data

View all PMT variants for SLC44A2 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.