rs5036
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 2 | Memphis variant of erythrocyte Band 3 glycoprotein |
| Make rs5036(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 44261577 |
| Gene | SLC4A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5036 |
| dbSNP (classic) | rs5036 |
| ClinGen | rs5036 |
| ebi | rs5036 |
| HLI | rs5036 |
| Exac | rs5036 |
| Gnomad | rs5036 |
| Varsome | rs5036 |
| LitVar | rs5036 |
| Map | rs5036 |
| PheGenI | rs5036 |
| Biobank | rs5036 |
| 1000 genomes | rs5036 |
| hgdp | rs5036 |
| ensembl | rs5036 |
| geneview | rs5036 |
| scholar | rs5036 |
| rs5036 | |
| pharmgkb | rs5036 |
| gwascentral | rs5036 |
| openSNP | rs5036 |
| 23andMe | rs5036 |
| SNPshot | rs5036 |
| SNPdbe | rs5036 |
| MSV3d | rs5036 |
| GWAS Ctlg | rs5036 |
| GMAF | 0.06703 |
| Max Magnitude | 2 |
aka c.166A>G (p.Lys56Glu or K56E)
This variant is known as the Memphis variant of the Band 3 glycoprotein, and it is found in perhaps 5-15% of individuals across various ethnicities. It is reported in ClinVar as likely to be benign, although some publications do cite some variation in anion transport in erythrocytes due to this (Memphis) variant.
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs5036(G;G) |
| Alt | rs5036(G;G) |
| Reference | Rs5036(A;A) |
| Significance | Pathogenic |
| Disease | Band 3 memphis not specified Hemolytic anemia Spherocytosis Distal Renal Tubular Acidosis |
| Variation | info |
| Gene | SLC4A1 |
| CLNDBN | Band 3 memphis not specified Hemolytic anemia Spherocytosis, Dominant Distal Renal Tubular Acidosis, Dominant |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42338945T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019328.30, RCV000251469.1, RCV000260217.1, RCV000300219.1, RCV000357412.1, |
