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.
rs1488075785
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:17002051-17002055 (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
- delG
- Variation Type
- Indel Insertion and Deletion
- Frequency
- delG=0.000004 (1/248848, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ATP13A2 : Frameshift Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 248848 | (G)5=0.999996 | delG=0.000004 |
| gnomAD - Exomes | European | Sub | 133624 | (G)5=1.000000 | delG=0.000000 |
| gnomAD - Exomes | Asian | Sub | 48730 | (G)5=1.00000 | delG=0.00000 |
| gnomAD - Exomes | American | Sub | 34326 | (G)5=0.99997 | delG=0.00003 |
| gnomAD - Exomes | African | Sub | 16168 | (G)5=1.00000 | delG=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9940 | (G)5=1.0000 | delG=0.0000 |
| gnomAD - Exomes | Other | Sub | 6060 | (G)5=1.0000 | delG=0.0000 |
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 1 | NC_000001.11:g.17002055del |
| GRCh37.p13 chr 1 | NC_000001.10:g.17328550del |
| ATP13A2 RefSeqGene (LRG_834) | NG_009054.1:g.14878del |
| GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH | NW_025791756.1:g.1417236del |
Gene: ATP13A2, ATPase cation transporting 13A2
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ATP13A2 transcript variant 1 | NM_022089.4:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform 1 | NP_071372.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant 3 | NM_001141974.3:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform 3 | NP_001135446.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant 2 | NM_001141973.3:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform 2 | NP_001135445.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X1 | XM_005245810.2:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X1 | XP_005245867.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X2 | XM_005245811.2:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X2 | XP_005245868.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X3 | XM_011541128.2:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X3 | XP_011539430.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X4 | XM_006710512.2:c.670del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X4 | XP_006710575.1:p.Gln224fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X5 | XM_047416537.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X5 | XP_047272493.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X6 | XM_005245812.2:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X6 | XP_005245869.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X7 | XM_047416538.1:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X7 | XP_047272494.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X8 | XM_047416539.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X8 | XP_047272495.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X9 | XM_006710513.2:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X9 | XP_006710576.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X10 | XM_047416542.1:c.670del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X10 | XP_047272498.1:p.Gln224fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X11 | XM_047416544.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X11 | XP_047272500.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X12 | XM_017000844.2:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X12 | XP_016856333.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X13 | XM_017000845.2:c.670del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X13 | XP_016856334.1:p.Gln224fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X14 | XM_047416546.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X14 | XP_047272502.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X15 | XM_047416547.1:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X15 | XP_047272503.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X16 | XM_047416548.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X16 | XP_047272504.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X17 | XM_047416549.1:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X17 | XP_047272505.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X18 | XM_047416550.1:c.670del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X18 | XP_047272506.1:p.Gln224fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X19 | XM_017000846.2:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X19 | XP_016856335.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X20 | XM_047416551.1:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X20 | XP_047272507.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X21 | XM_047416553.1:c.670del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X21 | XP_047272509.1:p.Gln224fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X22 | XM_017000847.2:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X22 | XP_016856336.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X23 | XM_005245815.2:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X23 | XP_005245872.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X24 | XM_047416554.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X24 | XP_047272510.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X25 | XM_047416556.1:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X25 | XP_047272512.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X26 | XM_017000848.2:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X26 | XP_016856337.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X27 | XM_047416560.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X27 | XP_047272516.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X28 | XM_017000849.2:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X28 | XP_016856338.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X29 | XM_047416562.1:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X29 | XP_047272518.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X30 | XM_047416563.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X30 | XP_047272519.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X31 | XM_011541129.2:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X31 | XP_011539431.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X32 | XM_047416564.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X32 | XP_047272520.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X33 | XM_047416565.1:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X33 | XP_047272521.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X34 | XM_047416566.1:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X34 | XP_047272522.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X35 | XM_017000850.2:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X35 | XP_016856339.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X36 | XM_047416567.1:c.685del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X36 | XP_047272523.1:p.Gln229fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X37 | XM_047416568.1:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X37 | XP_047272524.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X38 | XM_047416569.1:c.670del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X38 | XP_047272525.1:p.Gln224fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X39 | XM_047416570.1:c.688del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X39 | XP_047272526.1:p.Gln230fs | Q (Gln) > S (Ser) | Frameshift Variant |
| ATP13A2 transcript variant X40 | XM_047416571.1:c.673del | Q [CAG] > S [AG] | Coding Sequence Variant |
| polyamine-transporting ATPase 13A2 isoform X40 | XP_047272527.1:p.Gln225fs | Q (Gln) > S (Ser) | Frameshift 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 | (G)5= | delG |
|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.17002051_17002055= | NC_000001.11:g.17002055del |
| GRCh37.p13 chr 1 | NC_000001.10:g.17328546_17328550= | NC_000001.10:g.17328550del |
| ATP13A2 RefSeqGene (LRG_834) | NG_009054.1:g.14874_14878= | NG_009054.1:g.14878del |
| ATP13A2 transcript variant 1 | NM_022089.4:c.684_688= | NM_022089.4:c.688del |
| ATP13A2 transcript variant 1 | NM_022089.3:c.684_688= | NM_022089.3:c.688del |
| ATP13A2 transcript variant 1 | NM_022089.2:c.684_688= | NM_022089.2:c.688del |
| ATP13A2 transcript variant 2 | NM_001141973.3:c.669_673= | NM_001141973.3:c.673del |
| ATP13A2 transcript variant 2 | NM_001141973.2:c.669_673= | NM_001141973.2:c.673del |
| ATP13A2 transcript variant 2 | NM_001141973.1:c.669_673= | NM_001141973.1:c.673del |
| ATP13A2 transcript variant 3 | NM_001141974.3:c.669_673= | NM_001141974.3:c.673del |
| ATP13A2 transcript variant 3 | NM_001141974.2:c.669_673= | NM_001141974.2:c.673del |
| ATP13A2 transcript variant 3 | NM_001141974.1:c.669_673= | NM_001141974.1:c.673del |
| GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH | NW_025791756.1:g.1417232_1417236= | NW_025791756.1:g.1417236del |
| ATP13A2 transcript variant X12 | XM_017000844.2:c.684_688= | XM_017000844.2:c.688del |
| ATP13A2 transcript variant X7 | XM_017000844.1:c.684_688= | XM_017000844.1:c.688del |
| ATP13A2 transcript variant X13 | XM_017000845.2:c.666_670= | XM_017000845.2:c.670del |
| ATP13A2 transcript variant X8 | XM_017000845.1:c.666_670= | XM_017000845.1:c.670del |
| ATP13A2 transcript variant X19 | XM_017000846.2:c.669_673= | XM_017000846.2:c.673del |
| ATP13A2 transcript variant X9 | XM_017000846.1:c.669_673= | XM_017000846.1:c.673del |
| ATP13A2 transcript variant X22 | XM_017000847.2:c.681_685= | XM_017000847.2:c.685del |
| ATP13A2 transcript variant X10 | XM_017000847.1:c.681_685= | XM_017000847.1:c.685del |
| ATP13A2 transcript variant X26 | XM_017000848.2:c.684_688= | XM_017000848.2:c.688del |
| ATP13A2 transcript variant X12 | XM_017000848.1:c.684_688= | XM_017000848.1:c.688del |
| ATP13A2 transcript variant X28 | XM_017000849.2:c.669_673= | XM_017000849.2:c.673del |
| ATP13A2 transcript variant X13 | XM_017000849.1:c.669_673= | XM_017000849.1:c.673del |
| ATP13A2 transcript variant X1 | XM_005245810.2:c.681_685= | XM_005245810.2:c.685del |
| ATP13A2 transcript variant X1 | XM_005245810.1:c.681_685= | XM_005245810.1:c.685del |
| ATP13A2 transcript variant X3 | XM_011541128.2:c.684_688= | XM_011541128.2:c.688del |
| ATP13A2 transcript variant X3 | XM_011541128.1:c.684_688= | XM_011541128.1:c.688del |
| ATP13A2 transcript variant X2 | XM_005245811.2:c.669_673= | XM_005245811.2:c.673del |
| ATP13A2 transcript variant X2 | XM_005245811.1:c.669_673= | XM_005245811.1:c.673del |
| ATP13A2 transcript variant X4 | XM_006710512.2:c.666_670= | XM_006710512.2:c.670del |
| ATP13A2 transcript variant X4 | XM_006710512.1:c.666_670= | XM_006710512.1:c.670del |
| ATP13A2 transcript variant X6 | XM_005245812.2:c.684_688= | XM_005245812.2:c.688del |
| ATP13A2 transcript variant X5 | XM_005245812.1:c.684_688= | XM_005245812.1:c.688del |
| ATP13A2 transcript variant X35 | XM_017000850.2:c.684_688= | XM_017000850.2:c.688del |
| ATP13A2 transcript variant X15 | XM_017000850.1:c.684_688= | XM_017000850.1:c.688del |
| ATP13A2 transcript variant X9 | XM_006710513.2:c.669_673= | XM_006710513.2:c.673del |
| ATP13A2 transcript variant X6 | XM_006710513.1:c.669_673= | XM_006710513.1:c.673del |
| ATP13A2 transcript variant X23 | XM_005245815.2:c.684_688= | XM_005245815.2:c.688del |
| ATP13A2 transcript variant X11 | XM_005245815.1:c.684_688= | XM_005245815.1:c.688del |
| ATP13A2 transcript variant X31 | XM_011541129.2:c.684_688= | XM_011541129.2:c.688del |
| ATP13A2 transcript variant X14 | XM_011541129.1:c.684_688= | XM_011541129.1:c.688del |
| ATP13A2 transcript variant X14 | XM_047416546.1:c.681_685= | XM_047416546.1:c.685del |
| ATP13A2 transcript variant X15 | XM_047416547.1:c.684_688= | XM_047416547.1:c.688del |
| ATP13A2 transcript variant X16 | XM_047416548.1:c.681_685= | XM_047416548.1:c.685del |
| ATP13A2 transcript variant X18 | XM_047416550.1:c.666_670= | XM_047416550.1:c.670del |
| ATP13A2 transcript variant X20 | XM_047416551.1:c.684_688= | XM_047416551.1:c.688del |
| ATP13A2 transcript variant X21 | XM_047416553.1:c.666_670= | XM_047416553.1:c.670del |
| ATP13A2 transcript variant X25 | XM_047416556.1:c.669_673= | XM_047416556.1:c.673del |
| ATP13A2 transcript variant X27 | XM_047416560.1:c.681_685= | XM_047416560.1:c.685del |
| ATP13A2 transcript variant X29 | XM_047416562.1:c.684_688= | XM_047416562.1:c.688del |
| ATP13A2 transcript variant X33 | XM_047416565.1:c.684_688= | XM_047416565.1:c.688del |
| ATP13A2 transcript variant X8 | XM_047416539.1:c.681_685= | XM_047416539.1:c.685del |
| ATP13A2 transcript variant X7 | XM_047416538.1:c.669_673= | XM_047416538.1:c.673del |
| ATP13A2 transcript variant X36 | XM_047416567.1:c.681_685= | XM_047416567.1:c.685del |
| ATP13A2 transcript variant X10 | XM_047416542.1:c.666_670= | XM_047416542.1:c.670del |
| ATP13A2 transcript variant X37 | XM_047416568.1:c.669_673= | XM_047416568.1:c.673del |
| ATP13A2 transcript variant X38 | XM_047416569.1:c.666_670= | XM_047416569.1:c.670del |
| ATP13A2 transcript variant X39 | XM_047416570.1:c.684_688= | XM_047416570.1:c.688del |
| ATP13A2 transcript variant X40 | XM_047416571.1:c.669_673= | XM_047416571.1:c.673del |
| ATP13A2 transcript variant X24 | XM_047416554.1:c.681_685= | XM_047416554.1:c.685del |
| ATP13A2 transcript variant X32 | XM_047416564.1:c.681_685= | XM_047416564.1:c.685del |
| ATP13A2 transcript variant X34 | XM_047416566.1:c.684_688= | XM_047416566.1:c.688del |
| ATP13A2 transcript variant X17 | XM_047416549.1:c.669_673= | XM_047416549.1:c.673del |
| ATP13A2 transcript variant X5 | XM_047416537.1:c.681_685= | XM_047416537.1:c.685del |
| ATP13A2 transcript variant X30 | XM_047416563.1:c.681_685= | XM_047416563.1:c.685del |
| ATP13A2 transcript variant X11 | XM_047416544.1:c.681_685= | XM_047416544.1:c.685del |
| polyamine-transporting ATPase 13A2 isoform 1 | NP_071372.1:p.Tyr228_Gln230= | NP_071372.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform 2 | NP_001135445.1:p.Tyr223_Gln225= | NP_001135445.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform 3 | NP_001135446.1:p.Tyr223_Gln225= | NP_001135446.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X12 | XP_016856333.1:p.Tyr228_Gln230= | XP_016856333.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X13 | XP_016856334.1:p.Tyr222_Gln224= | XP_016856334.1:p.Gln224fs |
| polyamine-transporting ATPase 13A2 isoform X19 | XP_016856335.1:p.Tyr223_Gln225= | XP_016856335.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X22 | XP_016856336.1:p.Tyr227_Gln229= | XP_016856336.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X26 | XP_016856337.1:p.Tyr228_Gln230= | XP_016856337.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X28 | XP_016856338.1:p.Tyr223_Gln225= | XP_016856338.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X1 | XP_005245867.1:p.Tyr227_Gln229= | XP_005245867.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X3 | XP_011539430.1:p.Tyr228_Gln230= | XP_011539430.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X2 | XP_005245868.1:p.Tyr223_Gln225= | XP_005245868.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X4 | XP_006710575.1:p.Tyr222_Gln224= | XP_006710575.1:p.Gln224fs |
| polyamine-transporting ATPase 13A2 isoform X6 | XP_005245869.1:p.Tyr228_Gln230= | XP_005245869.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X35 | XP_016856339.1:p.Tyr228_Gln230= | XP_016856339.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X9 | XP_006710576.1:p.Tyr223_Gln225= | XP_006710576.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X23 | XP_005245872.1:p.Tyr228_Gln230= | XP_005245872.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X31 | XP_011539431.1:p.Tyr228_Gln230= | XP_011539431.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X14 | XP_047272502.1:p.Tyr227_Gln229= | XP_047272502.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X15 | XP_047272503.1:p.Tyr228_Gln230= | XP_047272503.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X16 | XP_047272504.1:p.Tyr227_Gln229= | XP_047272504.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X18 | XP_047272506.1:p.Tyr222_Gln224= | XP_047272506.1:p.Gln224fs |
| polyamine-transporting ATPase 13A2 isoform X20 | XP_047272507.1:p.Tyr228_Gln230= | XP_047272507.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X21 | XP_047272509.1:p.Tyr222_Gln224= | XP_047272509.1:p.Gln224fs |
| polyamine-transporting ATPase 13A2 isoform X25 | XP_047272512.1:p.Tyr223_Gln225= | XP_047272512.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X27 | XP_047272516.1:p.Tyr227_Gln229= | XP_047272516.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X29 | XP_047272518.1:p.Tyr228_Gln230= | XP_047272518.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X33 | XP_047272521.1:p.Tyr228_Gln230= | XP_047272521.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X8 | XP_047272495.1:p.Tyr227_Gln229= | XP_047272495.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X7 | XP_047272494.1:p.Tyr223_Gln225= | XP_047272494.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X36 | XP_047272523.1:p.Tyr227_Gln229= | XP_047272523.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X10 | XP_047272498.1:p.Tyr222_Gln224= | XP_047272498.1:p.Gln224fs |
| polyamine-transporting ATPase 13A2 isoform X37 | XP_047272524.1:p.Tyr223_Gln225= | XP_047272524.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X38 | XP_047272525.1:p.Tyr222_Gln224= | XP_047272525.1:p.Gln224fs |
| polyamine-transporting ATPase 13A2 isoform X39 | XP_047272526.1:p.Tyr228_Gln230= | XP_047272526.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X40 | XP_047272527.1:p.Tyr223_Gln225= | XP_047272527.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X24 | XP_047272510.1:p.Tyr227_Gln229= | XP_047272510.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X32 | XP_047272520.1:p.Tyr227_Gln229= | XP_047272520.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X34 | XP_047272522.1:p.Tyr228_Gln230= | XP_047272522.1:p.Gln230fs |
| polyamine-transporting ATPase 13A2 isoform X17 | XP_047272505.1:p.Tyr223_Gln225= | XP_047272505.1:p.Gln225fs |
| polyamine-transporting ATPase 13A2 isoform X5 | XP_047272493.1:p.Tyr227_Gln229= | XP_047272493.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X30 | XP_047272519.1:p.Tyr227_Gln229= | XP_047272519.1:p.Gln229fs |
| polyamine-transporting ATPase 13A2 isoform X11 | XP_047272500.1:p.Tyr227_Gln229= | XP_047272500.1:p.Gln229fs |
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,
1 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2731184163 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000001.10 - 17328546 | Jul 12, 2019 (153) |
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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).
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1488075785
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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.