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.
rs148288270
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:49858958 (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
- T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.0003 (2/6404, 1000G_30x)C=0.0002 (1/5008, 1000G)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ATP8B4 : Non Coding Transcript Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
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 |
|---|---|---|---|---|---|
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.9997 | C=0.0003 |
| 1000Genomes_30x | African | Sub | 1786 | T=1.0000 | C=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.9984 | C=0.0016 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=1.0000 | C=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=1.0000 | C=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | T=1.000 | C=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.9998 | C=0.0002 |
| 1000Genomes | African | Sub | 1322 | T=1.0000 | C=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | T=1.0000 | C=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | T=0.9990 | C=0.0010 |
| 1000Genomes | South Asian | Sub | 978 | T=1.000 | C=0.000 |
| 1000Genomes | American | Sub | 694 | T=1.000 | C=0.000 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.49858958T>C |
| GRCh37.p13 chr 15 | NC_000015.9:g.50151155T>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ATP8B4 transcript variant 1 | NM_024837.4:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant 4 | NR_073598.2:n.5127A>G | N/A | Non Coding Transcript Variant |
| ATP8B4 transcript variant 3 | NR_073597.2:n.4820A>G | N/A | Non Coding Transcript Variant |
| ATP8B4 transcript variant 2 | NR_073596.2:n.4867A>G | N/A | Non Coding Transcript Variant |
| ATP8B4 transcript variant X25 | XM_011522059.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X26 | XM_011522060.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X27 | XM_011522061.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X28 | XM_011522062.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X29 | XM_011522063.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X23 | XM_017022594.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X38 | XM_011522069.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X35 | XM_024450069.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X1 | XM_011522046.3:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X2 | XM_024450065.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X3 | XM_011522047.3:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X4 | XM_011522053.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X5 | XM_011522049.3:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X6 | XM_011522048.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X7 | XM_011522052.4:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X8 | XM_047433082.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X9 | XM_017022591.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X10 | XM_024450066.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X11 | XM_024450067.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X12 | XM_047433083.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X13 | XM_017022587.3:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X14 | XM_047433084.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X15 | XM_047433085.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X16 | XM_047433086.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X17 | XM_047433087.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X18 | XM_047433088.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X19 | XM_047433089.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X20 | XM_047433090.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X21 | XM_011522056.4:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X22 | XM_047433091.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X24 | XM_011522058.4:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X30 | XM_047433092.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X31 | XM_047433093.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X33 | XM_047433094.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X34 | XM_047433096.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X36 | XM_047433097.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X37 | XM_047433098.1:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X41 | XM_011522070.2:c.*1236= | N/A | 3 Prime UTR Variant |
| ATP8B4 transcript variant X32 | XM_024450068.2:c. | N/A | Genic Downstream Transcript Variant |
| ATP8B4 transcript variant X42 | XM_024450070.2:c. | N/A | Genic Downstream Transcript Variant |
| ATP8B4 transcript variant X39 | XM_047433099.1:c. | N/A | Genic Downstream Transcript Variant |
| ATP8B4 transcript variant X40 | XM_047433100.1:c. | N/A | Genic Downstream Transcript Variant |
| ATP8B4 transcript variant X43 | XR_002957687.2:n. | N/A | Genic Downstream Transcript Variant |
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.
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 | T= | C |
|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.49858958= | NC_000015.10:g.49858958T>C |
| GRCh37.p13 chr 15 | NC_000015.9:g.50151155= | NC_000015.9:g.50151155T>C |
| ATP8B4 transcript variant X7 | XM_011522052.4:c.*1236= | XM_011522052.4:c.*1236A>G |
| ATP8B4 transcript variant X6 | XM_011522052.3:c.*1236= | XM_011522052.3:c.*1236A>G |
| ATP8B4 transcript variant X9 | XM_011522052.2:c.*1236= | XM_011522052.2:c.*1236A>G |
| ATP8B4 transcript variant X8 | XM_011522052.1:c.*1236= | XM_011522052.1:c.*1236A>G |
| ATP8B4 transcript variant X21 | XM_011522056.4:c.*1236= | XM_011522056.4:c.*1236A>G |
| ATP8B4 transcript variant X13 | XM_011522056.3:c.*1236= | XM_011522056.3:c.*1236A>G |
| ATP8B4 transcript variant X1 | XM_011522056.2:c.*1236= | XM_011522056.2:c.*1236A>G |
| ATP8B4 transcript variant X12 | XM_011522056.1:c.*1236= | XM_011522056.1:c.*1236A>G |
| ATP8B4 transcript variant 1 | NM_024837.4:c.*1236= | NM_024837.4:c.*1236A>G |
| ATP8B4 transcript variant 1 | NM_024837.3:c.*1236= | NM_024837.3:c.*1236A>G |
| ATP8B4 transcript variant X24 | XM_011522058.4:c.*1236= | XM_011522058.4:c.*1236A>G |
| ATP8B4 transcript variant X15 | XM_011522058.3:c.*1236= | XM_011522058.3:c.*1236A>G |
| ATP8B4 transcript variant X17 | XM_011522058.2:c.*1236= | XM_011522058.2:c.*1236A>G |
| ATP8B4 transcript variant X14 | XM_011522058.1:c.*1236= | XM_011522058.1:c.*1236A>G |
| ATP8B4 transcript variant X1 | XM_011522046.3:c.*1236= | XM_011522046.3:c.*1236A>G |
| ATP8B4 transcript variant X1 | XM_011522046.2:c.*1236= | XM_011522046.2:c.*1236A>G |
| ATP8B4 transcript variant X1 | XM_011522046.1:c.*1236= | XM_011522046.1:c.*1236A>G |
| ATP8B4 transcript variant X5 | XM_011522049.3:c.*1236= | XM_011522049.3:c.*1236A>G |
| ATP8B4 transcript variant X5 | XM_011522049.2:c.*1236= | XM_011522049.2:c.*1236A>G |
| ATP8B4 transcript variant X5 | XM_011522049.1:c.*1236= | XM_011522049.1:c.*1236A>G |
| ATP8B4 transcript variant X3 | XM_011522047.3:c.*1236= | XM_011522047.3:c.*1236A>G |
| ATP8B4 transcript variant X3 | XM_011522047.2:c.*1236= | XM_011522047.2:c.*1236A>G |
| ATP8B4 transcript variant X3 | XM_011522047.1:c.*1236= | XM_011522047.1:c.*1236A>G |
| ATP8B4 transcript variant X13 | XM_017022587.3:c.*1236= | XM_017022587.3:c.*1236A>G |
| ATP8B4 transcript variant X22 | XM_017022587.2:c.*1236= | XM_017022587.2:c.*1236A>G |
| ATP8B4 transcript variant X2 | XM_017022587.1:c.*1236= | XM_017022587.1:c.*1236A>G |
| ATP8B4 transcript variant X2 | XM_024450065.2:c.*1236= | XM_024450065.2:c.*1236A>G |
| ATP8B4 transcript variant X2 | XM_024450065.1:c.*1236= | XM_024450065.1:c.*1236A>G |
| ATP8B4 transcript variant X9 | XM_017022591.2:c.*1236= | XM_017022591.2:c.*1236A>G |
| ATP8B4 transcript variant X9 | XM_017022591.1:c.*1236= | XM_017022591.1:c.*1236A>G |
| ATP8B4 transcript variant 4 | NR_073598.2:n.5127= | NR_073598.2:n.5127A>G |
| ATP8B4 transcript variant 4 | NR_073598.1:n.5064= | NR_073598.1:n.5064A>G |
| ATP8B4 transcript variant X10 | XM_024450066.2:c.*1236= | XM_024450066.2:c.*1236A>G |
| ATP8B4 transcript variant X10 | XM_024450066.1:c.*1236= | XM_024450066.1:c.*1236A>G |
| ATP8B4 transcript variant X6 | XM_011522048.2:c.*1236= | XM_011522048.2:c.*1236A>G |
| ATP8B4 transcript variant X4 | XM_011522048.1:c.*1236= | XM_011522048.1:c.*1236A>G |
| ATP8B4 transcript variant X11 | XM_024450067.2:c.*1236= | XM_024450067.2:c.*1236A>G |
| ATP8B4 transcript variant X11 | XM_024450067.1:c.*1236= | XM_024450067.1:c.*1236A>G |
| ATP8B4 transcript variant X4 | XM_011522053.2:c.*1236= | XM_011522053.2:c.*1236A>G |
| ATP8B4 transcript variant X8 | XM_011522053.1:c.*1236= | XM_011522053.1:c.*1236A>G |
| ATP8B4 transcript variant 2 | NR_073596.2:n.4867= | NR_073596.2:n.4867A>G |
| ATP8B4 transcript variant 2 | NR_073596.1:n.4856= | NR_073596.1:n.4856A>G |
| ATP8B4 transcript variant 3 | NR_073597.2:n.4820= | NR_073597.2:n.4820A>G |
| ATP8B4 transcript variant 3 | NR_073597.1:n.4809= | NR_073597.1:n.4809A>G |
| ATP8B4 transcript variant X38 | XM_011522069.2:c.*1236= | XM_011522069.2:c.*1236A>G |
| ATP8B4 transcript variant X28 | XM_011522069.1:c.*1236= | XM_011522069.1:c.*1236A>G |
| ATP8B4 transcript variant X41 | XM_011522070.2:c.*1236= | XM_011522070.2:c.*1236A>G |
| ATP8B4 transcript variant X29 | XM_011522070.1:c.*1236= | XM_011522070.1:c.*1236A>G |
| ATP8B4 transcript variant X37 | XM_047433098.1:c.*1236= | XM_047433098.1:c.*1236A>G |
| ATP8B4 transcript variant X8 | XM_047433082.1:c.*1236= | XM_047433082.1:c.*1236A>G |
| ATP8B4 transcript variant X14 | XM_047433084.1:c.*1236= | XM_047433084.1:c.*1236A>G |
| ATP8B4 transcript variant X15 | XM_047433085.1:c.*1236= | XM_047433085.1:c.*1236A>G |
| ATP8B4 transcript variant X16 | XM_047433086.1:c.*1236= | XM_047433086.1:c.*1236A>G |
| ATP8B4 transcript variant X12 | XM_047433083.1:c.*1236= | XM_047433083.1:c.*1236A>G |
| ATP8B4 transcript variant X17 | XM_047433087.1:c.*1236= | XM_047433087.1:c.*1236A>G |
| ATP8B4 transcript variant X26 | XM_011522060.1:c.*1236= | XM_011522060.1:c.*1236A>G |
| ATP8B4 transcript variant X18 | XM_047433088.1:c.*1236= | XM_047433088.1:c.*1236A>G |
| ATP8B4 transcript variant X27 | XM_011522061.1:c.*1236= | XM_011522061.1:c.*1236A>G |
| ATP8B4 transcript variant X22 | XM_047433091.1:c.*1236= | XM_047433091.1:c.*1236A>G |
| ATP8B4 transcript variant X19 | XM_047433089.1:c.*1236= | XM_047433089.1:c.*1236A>G |
| ATP8B4 transcript variant X20 | XM_047433090.1:c.*1236= | XM_047433090.1:c.*1236A>G |
| ATP8B4 transcript variant X23 | XM_017022594.1:c.*1236= | XM_017022594.1:c.*1236A>G |
| ATP8B4 transcript variant X25 | XM_011522059.1:c.*1236= | XM_011522059.1:c.*1236A>G |
| ATP8B4 transcript variant X28 | XM_011522062.1:c.*1236= | XM_011522062.1:c.*1236A>G |
| ATP8B4 transcript variant X29 | XM_011522063.1:c.*1236= | XM_011522063.1:c.*1236A>G |
| ATP8B4 transcript variant X34 | XM_047433096.1:c.*1236= | XM_047433096.1:c.*1236A>G |
| ATP8B4 transcript variant X30 | XM_047433092.1:c.*1236= | XM_047433092.1:c.*1236A>G |
| ATP8B4 transcript variant X31 | XM_047433093.1:c.*1236= | XM_047433093.1:c.*1236A>G |
| ATP8B4 transcript variant X33 | XM_047433094.1:c.*1236= | XM_047433094.1:c.*1236A>G |
| ATP8B4 transcript variant X36 | XM_047433097.1:c.*1236= | XM_047433097.1:c.*1236A>G |
| ATP8B4 transcript variant X35 | XM_024450069.1:c.*1236= | XM_024450069.1:c.*1236A>G |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | 1000GENOMES | ss338768399 | May 09, 2011 (134) |
| 2 | 1000GENOMES | ss1353402671 | Aug 21, 2014 (142) |
| 3 | 1000G_HIGH_COVERAGE | ss5298387813 | Oct 17, 2022 (156) |
| 4 | EVA | ss5419140308 | Oct 17, 2022 (156) |
| 5 | 1000G_HIGH_COVERAGE | ss5599766666 | Oct 17, 2022 (156) |
| 6 | EVA | ss5875814841 | Oct 17, 2022 (156) |
| 7 | 1000Genomes | NC_000015.9 - 50151155 | Oct 12, 2018 (152) |
| 8 | 1000Genomes_30x | NC_000015.10 - 49858958 | Oct 17, 2022 (156) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 66472407, ss338768399, ss1353402671, ss5419140308 | NC_000015.9:50151154:T:C | NC_000015.10:49858957:T:C | (self) |
| 87292601, ss5298387813, ss5599766666, ss5875814841 | NC_000015.10:49858957:T:C | NC_000015.10:49858957:T:C |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs148288270
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
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.