dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1488047140
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:125097614 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.000034 (9/264690, TOPMED)C=0.000012 (3/251234, GnomAD_exome)C=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- TMEM218 : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | A=1.00000 | C=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | A=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | A=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | A=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | A=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | A=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | A=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | A=0.999966 | C=0.000034 |
| gnomAD - Exomes | Global | Study-wide | 251234 | A=0.999988 | C=0.000012 |
| gnomAD - Exomes | European | Sub | 135296 | A=1.000000 | C=0.000000 |
| gnomAD - Exomes | Asian | Sub | 48970 | A=1.00000 | C=0.00000 |
| gnomAD - Exomes | American | Sub | 34508 | A=1.00000 | C=0.00000 |
| gnomAD - Exomes | African | Sub | 16250 | A=0.99982 | C=0.00018 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10076 | A=1.00000 | C=0.00000 |
| gnomAD - Exomes | Other | Sub | 6134 | A=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | A=1.00000 | C=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | A=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | A=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | A=1.000 | C=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | A=1.000 | C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | A=1.000 | C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | A=1.000 | C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | A=1.00 | C=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.125097614A>C |
| GRCh37.p13 chr 11 | NC_000011.9:g.124967510A>C |
Gene: TMEM218, transmembrane protein 218
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TMEM218 transcript variant 45 | NM_001387256.1:c.*155= | N/A | 3 Prime UTR Variant |
| TMEM218 transcript variant 46 | NM_001387257.1:c.*155= | N/A | 3 Prime UTR Variant |
| TMEM218 transcript variant 47 | NM_001387258.1:c.*155= | N/A | 3 Prime UTR Variant |
| TMEM218 transcript variant 44 | NM_001387255.1:c.*155= | N/A | 3 Prime UTR Variant |
| TMEM218 transcript variant 48 | NM_001387259.1:c.*155= | N/A | 3 Prime UTR Variant |
| TMEM218 transcript variant 5 | NM_001258238.2:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245167.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 7 | NM_001258241.2:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245170.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 9 | NM_001258244.2:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245173.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 6 | NM_001258240.2:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245169.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 8 | NM_001080546.3:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001074015.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 11 | NM_001258247.2:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245176.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 10 | NM_001258245.2:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245174.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 2 | NM_001258242.3:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245171.2:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 38 | NM_001387249.1:c.418T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 3 | NP_001374178.1:p.Ser140Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 26 | NM_001387237.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374166.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 34 | NM_001387245.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374174.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 37 | NM_001387248.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374177.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 29 | NM_001387240.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374169.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 25 | NM_001387236.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374165.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 43 | NM_001387254.1:c.259T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 4 | NP_001374183.1:p.Ser87Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 20 | NM_001387231.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374160.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 21 | NM_001387232.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374161.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 39 | NM_001387250.1:c.259T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 4 | NP_001374179.1:p.Ser87Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 3 | NM_001258239.3:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245168.2:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 40 | NM_001387251.1:c.259T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 4 | NP_001374180.1:p.Ser87Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 41 | NM_001387252.1:c.259T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 4 | NP_001374181.1:p.Ser87Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 27 | NM_001387238.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374167.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 28 | NM_001387239.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374168.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 42 | NM_001387253.1:c.259T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 4 | NP_001374182.1:p.Ser87Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 31 | NM_001387242.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374171.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 1 | NM_001258243.3:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245172.2:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 33 | NM_001387244.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374173.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 19 | NM_001387230.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374159.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 4 | NM_001258246.3:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001245175.2:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 22 | NM_001387233.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374162.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 30 | NM_001387241.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374170.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 24 | NM_001387235.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374164.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 35 | NM_001387246.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374175.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 36 | NM_001387247.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374176.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 23 | NM_001387234.1:c.340T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform 2 | NP_001374163.1:p.Ser114Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant 15 | NR_047589.2:n.394T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 12 | NR_047586.2:n.487T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 13 | NR_047587.2:n.270T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 16 | NR_047590.2:n.567T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 14 | NR_047588.2:n.630T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 18 | NR_047592.2:n.533T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 17 | NR_047591.2:n.453T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 60 | NR_170611.1:n.636T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 61 | NR_170612.1:n.347T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 57 | NR_170608.1:n.303T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 52 | NR_170603.1:n.301T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 49 | NR_170600.1:n.449T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 50 | NR_170601.1:n.348T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 55 | NR_170606.1:n.223T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 56 | NR_170607.1:n.272T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 53 | NR_170604.1:n.398T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 51 | NR_170602.1:n.485T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 58 | NR_170609.1:n.429T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 62 | NR_170613.1:n.444T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 54 | NR_170605.1:n.318T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant 59 | NR_170610.1:n.606T>G | N/A | Non Coding Transcript Variant |
| TMEM218 transcript variant X1 | XM_006718780.4:c.445T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform X1 | XP_006718843.1:p.Ser149Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant X4 | XM_047426540.1:c.445T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform X1 | XP_047282496.1:p.Ser149Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant X5 | XM_047426541.1:c.445T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform X1 | XP_047282497.1:p.Ser149Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant X3 | XM_047426542.1:c.445T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform X1 | XP_047282498.1:p.Ser149Ala | S (Ser) > A (Ala) | Missense Variant |
| TMEM218 transcript variant X2 | XM_047426543.1:c.445T>G | S [TCC] > A [GCC] | Coding Sequence Variant |
| transmembrane protein 218 isoform X1 | XP_047282499.1:p.Ser149Ala | S (Ser) > A (Ala) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | C |
|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.125097614= | NC_000011.10:g.125097614A>C |
| GRCh37.p13 chr 11 | NC_000011.9:g.124967510= | NC_000011.9:g.124967510A>C |
| TMEM218 transcript variant X1 | XM_006718780.4:c.445= | XM_006718780.4:c.445T>G |
| TMEM218 transcript variant X5 | XM_006718780.3:c.445= | XM_006718780.3:c.445T>G |
| TMEM218 transcript variant X2 | XM_006718780.2:c.445= | XM_006718780.2:c.445T>G |
| TMEM218 transcript variant X2 | XM_006718780.1:c.445= | XM_006718780.1:c.445T>G |
| TMEM218 transcript variant 1 | NM_001258243.3:c.340= | NM_001258243.3:c.340T>G |
| TMEM218 transcript variant 1 | NM_001258243.2:c.445= | NM_001258243.2:c.445T>G |
| TMEM218 transcript variant 1 | NM_001258243.1:c.445= | NM_001258243.1:c.445T>G |
| TMEM218 transcript variant 8 | NM_001080546.3:c.340= | NM_001080546.3:c.340T>G |
| TMEM218 transcript variant 8 | NM_001080546.2:c.340= | NM_001080546.2:c.340T>G |
| TMEM218 transcript variant 2 | NM_001258242.3:c.340= | NM_001258242.3:c.340T>G |
| TMEM218 transcript variant 2 | NM_001258242.2:c.445= | NM_001258242.2:c.445T>G |
| TMEM218 transcript variant 2 | NM_001258242.1:c.445= | NM_001258242.1:c.445T>G |
| TMEM218 transcript variant 4 | NM_001258246.3:c.340= | NM_001258246.3:c.340T>G |
| TMEM218 transcript variant 4 | NM_001258246.2:c.445= | NM_001258246.2:c.445T>G |
| TMEM218 transcript variant 4 | NM_001258246.1:c.445= | NM_001258246.1:c.445T>G |
| TMEM218 transcript variant 3 | NM_001258239.3:c.340= | NM_001258239.3:c.340T>G |
| TMEM218 transcript variant 3 | NM_001258239.2:c.445= | NM_001258239.2:c.445T>G |
| TMEM218 transcript variant 3 | NM_001258239.1:c.445= | NM_001258239.1:c.445T>G |
| TMEM218 transcript variant 10 | NM_001258245.2:c.340= | NM_001258245.2:c.340T>G |
| TMEM218 transcript variant 10 | NM_001258245.1:c.340= | NM_001258245.1:c.340T>G |
| TMEM218 transcript variant 6 | NM_001258240.2:c.340= | NM_001258240.2:c.340T>G |
| TMEM218 transcript variant 6 | NM_001258240.1:c.340= | NM_001258240.1:c.340T>G |
| TMEM218 transcript variant 7 | NM_001258241.2:c.340= | NM_001258241.2:c.340T>G |
| TMEM218 transcript variant 7 | NM_001258241.1:c.340= | NM_001258241.1:c.340T>G |
| TMEM218 transcript variant 14 | NR_047588.2:n.630= | NR_047588.2:n.630T>G |
| TMEM218 transcript variant 14 | NR_047588.1:n.712= | NR_047588.1:n.712T>G |
| TMEM218 transcript variant 9 | NM_001258244.2:c.340= | NM_001258244.2:c.340T>G |
| TMEM218 transcript variant 9 | NM_001258244.1:c.340= | NM_001258244.1:c.340T>G |
| TMEM218 transcript variant 16 | NR_047590.2:n.567= | NR_047590.2:n.567T>G |
| TMEM218 transcript variant 16 | NR_047590.1:n.649= | NR_047590.1:n.649T>G |
| TMEM218 transcript variant 11 | NM_001258247.2:c.340= | NM_001258247.2:c.340T>G |
| TMEM218 transcript variant 11 | NM_001258247.1:c.340= | NM_001258247.1:c.340T>G |
| TMEM218 transcript variant 5 | NM_001258238.2:c.340= | NM_001258238.2:c.340T>G |
| TMEM218 transcript variant 5 | NM_001258238.1:c.340= | NM_001258238.1:c.340T>G |
| TMEM218 transcript variant 18 | NR_047592.2:n.533= | NR_047592.2:n.533T>G |
| TMEM218 transcript variant 18 | NR_047592.1:n.615= | NR_047592.1:n.615T>G |
| TMEM218 transcript variant 12 | NR_047586.2:n.487= | NR_047586.2:n.487T>G |
| TMEM218 transcript variant 12 | NR_047586.1:n.624= | NR_047586.1:n.624T>G |
| TMEM218 transcript variant 17 | NR_047591.2:n.453= | NR_047591.2:n.453T>G |
| TMEM218 transcript variant 17 | NR_047591.1:n.535= | NR_047591.1:n.535T>G |
| TMEM218 transcript variant 15 | NR_047589.2:n.394= | NR_047589.2:n.394T>G |
| TMEM218 transcript variant 15 | NR_047589.1:n.476= | NR_047589.1:n.476T>G |
| TMEM218 transcript variant 13 | NR_047587.2:n.270= | NR_047587.2:n.270T>G |
| TMEM218 transcript variant 13 | NR_047587.1:n.407= | NR_047587.1:n.407T>G |
| TMEM218 transcript variant 30 | NM_001387241.1:c.340= | NM_001387241.1:c.340T>G |
| TMEM218 transcript variant 20 | NM_001387231.1:c.340= | NM_001387231.1:c.340T>G |
| TMEM218 transcript variant 33 | NM_001387244.1:c.340= | NM_001387244.1:c.340T>G |
| TMEM218 transcript variant X5 | XM_047426541.1:c.445= | XM_047426541.1:c.445T>G |
| TMEM218 transcript variant 38 | NM_001387249.1:c.418= | NM_001387249.1:c.418T>G |
| TMEM218 transcript variant X4 | XM_047426540.1:c.445= | XM_047426540.1:c.445T>G |
| TMEM218 transcript variant 45 | NM_001387256.1:c.*155= | NM_001387256.1:c.*155T>G |
| TMEM218 transcript variant 22 | NM_001387233.1:c.340= | NM_001387233.1:c.340T>G |
| TMEM218 transcript variant X3 | XM_047426542.1:c.445= | XM_047426542.1:c.445T>G |
| TMEM218 transcript variant 37 | NM_001387248.1:c.340= | NM_001387248.1:c.340T>G |
| TMEM218 transcript variant X2 | XM_047426543.1:c.445= | XM_047426543.1:c.445T>G |
| TMEM218 transcript variant 31 | NM_001387242.1:c.340= | NM_001387242.1:c.340T>G |
| TMEM218 transcript variant 25 | NM_001387236.1:c.340= | NM_001387236.1:c.340T>G |
| TMEM218 transcript variant 40 | NM_001387251.1:c.259= | NM_001387251.1:c.259T>G |
| TMEM218 transcript variant 46 | NM_001387257.1:c.*155= | NM_001387257.1:c.*155T>G |
| TMEM218 transcript variant 21 | NM_001387232.1:c.340= | NM_001387232.1:c.340T>G |
| TMEM218 transcript variant 26 | NM_001387237.1:c.340= | NM_001387237.1:c.340T>G |
| TMEM218 transcript variant 60 | NR_170611.1:n.636= | NR_170611.1:n.636T>G |
| TMEM218 transcript variant 36 | NM_001387247.1:c.340= | NM_001387247.1:c.340T>G |
| TMEM218 transcript variant 48 | NM_001387259.1:c.*155= | NM_001387259.1:c.*155T>G |
| TMEM218 transcript variant 32 | NM_001387243.1:c.340= | NM_001387243.1:c.340T>G |
| TMEM218 transcript variant 19 | NM_001387230.1:c.340= | NM_001387230.1:c.340T>G |
| TMEM218 transcript variant 59 | NR_170610.1:n.606= | NR_170610.1:n.606T>G |
| TMEM218 transcript variant 27 | NM_001387238.1:c.340= | NM_001387238.1:c.340T>G |
| TMEM218 transcript variant 28 | NM_001387239.1:c.340= | NM_001387239.1:c.340T>G |
| TMEM218 transcript variant 35 | NM_001387246.1:c.340= | NM_001387246.1:c.340T>G |
| TMEM218 transcript variant 47 | NM_001387258.1:c.*155= | NM_001387258.1:c.*155T>G |
| TMEM218 transcript variant 44 | NM_001387255.1:c.*155= | NM_001387255.1:c.*155T>G |
| TMEM218 transcript variant 24 | NM_001387235.1:c.340= | NM_001387235.1:c.340T>G |
| TMEM218 transcript variant 34 | NM_001387245.1:c.340= | NM_001387245.1:c.340T>G |
| TMEM218 transcript variant 23 | NM_001387234.1:c.340= | NM_001387234.1:c.340T>G |
| TMEM218 transcript variant 41 | NM_001387252.1:c.259= | NM_001387252.1:c.259T>G |
| TMEM218 transcript variant 29 | NM_001387240.1:c.340= | NM_001387240.1:c.340T>G |
| TMEM218 transcript variant 43 | NM_001387254.1:c.259= | NM_001387254.1:c.259T>G |
| TMEM218 transcript variant 51 | NR_170602.1:n.485= | NR_170602.1:n.485T>G |
| TMEM218 transcript variant 49 | NR_170600.1:n.449= | NR_170600.1:n.449T>G |
| TMEM218 transcript variant 42 | NM_001387253.1:c.259= | NM_001387253.1:c.259T>G |
| TMEM218 transcript variant 62 | NR_170613.1:n.444= | NR_170613.1:n.444T>G |
| TMEM218 transcript variant 39 | NM_001387250.1:c.259= | NM_001387250.1:c.259T>G |
| TMEM218 transcript variant 58 | NR_170609.1:n.429= | NR_170609.1:n.429T>G |
| TMEM218 transcript variant 53 | NR_170604.1:n.398= | NR_170604.1:n.398T>G |
| TMEM218 transcript variant 50 | NR_170601.1:n.348= | NR_170601.1:n.348T>G |
| TMEM218 transcript variant 61 | NR_170612.1:n.347= | NR_170612.1:n.347T>G |
| TMEM218 transcript variant 54 | NR_170605.1:n.318= | NR_170605.1:n.318T>G |
| TMEM218 transcript variant 57 | NR_170608.1:n.303= | NR_170608.1:n.303T>G |
| TMEM218 transcript variant 52 | NR_170603.1:n.301= | NR_170603.1:n.301T>G |
| TMEM218 transcript variant 56 | NR_170607.1:n.272= | NR_170607.1:n.272T>G |
| TMEM218 transcript variant 55 | NR_170606.1:n.223= | NR_170606.1:n.223T>G |
| transmembrane protein 218 isoform X1 | XP_006718843.1:p.Ser149= | XP_006718843.1:p.Ser149Ala |
| transmembrane protein 218 isoform 2 | NP_001245172.2:p.Ser114= | NP_001245172.2:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001074015.1:p.Ser114= | NP_001074015.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245171.2:p.Ser114= | NP_001245171.2:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245175.2:p.Ser114= | NP_001245175.2:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245168.2:p.Ser114= | NP_001245168.2:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245174.1:p.Ser114= | NP_001245174.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245169.1:p.Ser114= | NP_001245169.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245170.1:p.Ser114= | NP_001245170.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245173.1:p.Ser114= | NP_001245173.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245176.1:p.Ser114= | NP_001245176.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001245167.1:p.Ser114= | NP_001245167.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374170.1:p.Ser114= | NP_001374170.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374160.1:p.Ser114= | NP_001374160.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374173.1:p.Ser114= | NP_001374173.1:p.Ser114Ala |
| transmembrane protein 218 isoform X1 | XP_047282497.1:p.Ser149= | XP_047282497.1:p.Ser149Ala |
| transmembrane protein 218 isoform 3 | NP_001374178.1:p.Ser140= | NP_001374178.1:p.Ser140Ala |
| transmembrane protein 218 isoform X1 | XP_047282496.1:p.Ser149= | XP_047282496.1:p.Ser149Ala |
| transmembrane protein 218 isoform 2 | NP_001374162.1:p.Ser114= | NP_001374162.1:p.Ser114Ala |
| transmembrane protein 218 isoform X1 | XP_047282498.1:p.Ser149= | XP_047282498.1:p.Ser149Ala |
| transmembrane protein 218 isoform 2 | NP_001374177.1:p.Ser114= | NP_001374177.1:p.Ser114Ala |
| transmembrane protein 218 isoform X1 | XP_047282499.1:p.Ser149= | XP_047282499.1:p.Ser149Ala |
| transmembrane protein 218 isoform 2 | NP_001374171.1:p.Ser114= | NP_001374171.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374165.1:p.Ser114= | NP_001374165.1:p.Ser114Ala |
| transmembrane protein 218 isoform 4 | NP_001374180.1:p.Ser87= | NP_001374180.1:p.Ser87Ala |
| transmembrane protein 218 isoform 2 | NP_001374161.1:p.Ser114= | NP_001374161.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374166.1:p.Ser114= | NP_001374166.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374176.1:p.Ser114= | NP_001374176.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374159.1:p.Ser114= | NP_001374159.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374167.1:p.Ser114= | NP_001374167.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374168.1:p.Ser114= | NP_001374168.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374175.1:p.Ser114= | NP_001374175.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374164.1:p.Ser114= | NP_001374164.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374174.1:p.Ser114= | NP_001374174.1:p.Ser114Ala |
| transmembrane protein 218 isoform 2 | NP_001374163.1:p.Ser114= | NP_001374163.1:p.Ser114Ala |
| transmembrane protein 218 isoform 4 | NP_001374181.1:p.Ser87= | NP_001374181.1:p.Ser87Ala |
| transmembrane protein 218 isoform 2 | NP_001374169.1:p.Ser114= | NP_001374169.1:p.Ser114Ala |
| transmembrane protein 218 isoform 4 | NP_001374183.1:p.Ser87= | NP_001374183.1:p.Ser87Ala |
| transmembrane protein 218 isoform 4 | NP_001374182.1:p.Ser87= | NP_001374182.1:p.Ser87Ala |
| transmembrane protein 218 isoform 4 | NP_001374179.1:p.Ser87= | NP_001374179.1:p.Ser87Ala |
| transmembrane protein 218 isoform 1 | NP_001245168.1:p.Ser149= | NP_001245168.1:p.Ser149Ala |
| transmembrane protein 218 isoform 1 | NP_001245171.1:p.Ser149= | NP_001245171.1:p.Ser149Ala |
| transmembrane protein 218 isoform 1 | NP_001245172.1:p.Ser149= | NP_001245172.1:p.Ser149Ala |
| transmembrane protein 218 isoform 1 | NP_001245175.1:p.Ser149= | NP_001245175.1:p.Ser149Ala |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
1 SubSNP,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TOPMED | ss4903356170 | Apr 26, 2021 (155) |
| 2 | gnomAD - Exomes | NC_000011.9 - 124967510 | Jul 13, 2019 (153) |
| 3 | TopMed | NC_000011.10 - 125097614 | Apr 26, 2021 (155) |
| 4 | ALFA | NC_000011.10 - 125097614 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1488047140
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.