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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1482100202

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:17004759 (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=0.000008 (2/264690, TOPMED)
C=0.000007 (1/140160, GnomAD)
C=0.00000 (0/14050, ALFA) (+ 1 more)
C=0.0055 (10/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP13A2 : 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


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
TopMed Global Study-wide 264690 A=0.999992 C=0.000008
gnomAD - Genomes Global Study-wide 140160 A=0.999993 C=0.000007
gnomAD - Genomes European Sub 75906 A=0.99999 C=0.00001
gnomAD - Genomes African Sub 42006 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13650 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3124 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 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
Korean Genome Project KOREAN Study-wide 1832 A=0.9945 C=0.0055
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.17004759A>C
GRCh37.p13 chr 1 NC_000001.10:g.17331254A>C
ATP13A2 RefSeqGene (LRG_834) NG_009054.1:g.12170T>G
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH NW_025791756.1:g.1419942A>C
Gene: ATP13A2, ATPase cation transporting 13A2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP13A2 transcript variant 1 NM_022089.4:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 1 NP_071372.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant 3 NM_001141974.3:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 3 NP_001135446.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant 2 NM_001141973.3:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform 2 NP_001135445.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X1 XM_005245810.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X1 XP_005245867.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X2 XM_005245811.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X2 XP_005245868.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X3 XM_011541128.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X3 XP_011539430.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X4 XM_006710512.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X4 XP_006710575.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X5 XM_047416537.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X5 XP_047272493.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X6 XM_005245812.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X6 XP_005245869.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X7 XM_047416538.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X7 XP_047272494.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X8 XM_047416539.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X8 XP_047272495.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X9 XM_006710513.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X9 XP_006710576.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X10 XM_047416542.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X10 XP_047272498.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X11 XM_047416544.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X11 XP_047272500.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X12 XM_017000844.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X12 XP_016856333.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X13 XM_017000845.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X13 XP_016856334.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X14 XM_047416546.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X14 XP_047272502.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X15 XM_047416547.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X15 XP_047272503.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X16 XM_047416548.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X16 XP_047272504.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X17 XM_047416549.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X17 XP_047272505.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X18 XM_047416550.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X18 XP_047272506.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X19 XM_017000846.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X19 XP_016856335.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X20 XM_047416551.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X20 XP_047272507.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X21 XM_047416553.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X21 XP_047272509.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X22 XM_017000847.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X22 XP_016856336.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X23 XM_005245815.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X23 XP_005245872.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X24 XM_047416554.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X24 XP_047272510.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X25 XM_047416556.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X25 XP_047272512.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X26 XM_017000848.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X26 XP_016856337.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X27 XM_047416560.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X27 XP_047272516.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X28 XM_017000849.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X28 XP_016856338.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X29 XM_047416562.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X29 XP_047272518.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X30 XM_047416563.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X30 XP_047272519.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X31 XM_011541129.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X31 XP_011539431.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X32 XM_047416564.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X32 XP_047272520.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X33 XM_047416565.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X33 XP_047272521.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X34 XM_047416566.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X34 XP_047272522.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X35 XM_017000850.2:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X35 XP_016856339.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X36 XM_047416567.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X36 XP_047272523.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X37 XM_047416568.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X37 XP_047272524.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X38 XM_047416569.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X38 XP_047272525.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X39 XM_047416570.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X39 XP_047272526.1:p.Val137Gly V (Val) > G (Gly) Missense Variant
ATP13A2 transcript variant X40 XM_047416571.1:c.410T>G V [GTA] > G [GGA] Coding Sequence Variant
polyamine-transporting ATPase 13A2 isoform X40 XP_047272527.1:p.Val137Gly V (Val) > G (Gly) 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 1 NC_000001.11:g.17004759= NC_000001.11:g.17004759A>C
GRCh37.p13 chr 1 NC_000001.10:g.17331254= NC_000001.10:g.17331254A>C
ATP13A2 RefSeqGene (LRG_834) NG_009054.1:g.12170= NG_009054.1:g.12170T>G
ATP13A2 transcript variant 1 NM_022089.4:c.410= NM_022089.4:c.410T>G
ATP13A2 transcript variant 1 NM_022089.3:c.410= NM_022089.3:c.410T>G
ATP13A2 transcript variant 1 NM_022089.2:c.410= NM_022089.2:c.410T>G
ATP13A2 transcript variant 2 NM_001141973.3:c.410= NM_001141973.3:c.410T>G
ATP13A2 transcript variant 2 NM_001141973.2:c.410= NM_001141973.2:c.410T>G
ATP13A2 transcript variant 2 NM_001141973.1:c.410= NM_001141973.1:c.410T>G
ATP13A2 transcript variant 3 NM_001141974.3:c.410= NM_001141974.3:c.410T>G
ATP13A2 transcript variant 3 NM_001141974.2:c.410= NM_001141974.2:c.410T>G
ATP13A2 transcript variant 3 NM_001141974.1:c.410= NM_001141974.1:c.410T>G
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH NW_025791756.1:g.1419942= NW_025791756.1:g.1419942A>C
ATP13A2 transcript variant X12 XM_017000844.2:c.410= XM_017000844.2:c.410T>G
ATP13A2 transcript variant X7 XM_017000844.1:c.410= XM_017000844.1:c.410T>G
ATP13A2 transcript variant X13 XM_017000845.2:c.410= XM_017000845.2:c.410T>G
ATP13A2 transcript variant X8 XM_017000845.1:c.410= XM_017000845.1:c.410T>G
ATP13A2 transcript variant X19 XM_017000846.2:c.410= XM_017000846.2:c.410T>G
ATP13A2 transcript variant X9 XM_017000846.1:c.410= XM_017000846.1:c.410T>G
ATP13A2 transcript variant X22 XM_017000847.2:c.410= XM_017000847.2:c.410T>G
ATP13A2 transcript variant X10 XM_017000847.1:c.410= XM_017000847.1:c.410T>G
ATP13A2 transcript variant X26 XM_017000848.2:c.410= XM_017000848.2:c.410T>G
ATP13A2 transcript variant X12 XM_017000848.1:c.410= XM_017000848.1:c.410T>G
ATP13A2 transcript variant X28 XM_017000849.2:c.410= XM_017000849.2:c.410T>G
ATP13A2 transcript variant X13 XM_017000849.1:c.410= XM_017000849.1:c.410T>G
ATP13A2 transcript variant X1 XM_005245810.2:c.410= XM_005245810.2:c.410T>G
ATP13A2 transcript variant X1 XM_005245810.1:c.410= XM_005245810.1:c.410T>G
ATP13A2 transcript variant X3 XM_011541128.2:c.410= XM_011541128.2:c.410T>G
ATP13A2 transcript variant X3 XM_011541128.1:c.410= XM_011541128.1:c.410T>G
ATP13A2 transcript variant X2 XM_005245811.2:c.410= XM_005245811.2:c.410T>G
ATP13A2 transcript variant X2 XM_005245811.1:c.410= XM_005245811.1:c.410T>G
ATP13A2 transcript variant X4 XM_006710512.2:c.410= XM_006710512.2:c.410T>G
ATP13A2 transcript variant X4 XM_006710512.1:c.410= XM_006710512.1:c.410T>G
ATP13A2 transcript variant X6 XM_005245812.2:c.410= XM_005245812.2:c.410T>G
ATP13A2 transcript variant X5 XM_005245812.1:c.410= XM_005245812.1:c.410T>G
ATP13A2 transcript variant X35 XM_017000850.2:c.410= XM_017000850.2:c.410T>G
ATP13A2 transcript variant X15 XM_017000850.1:c.410= XM_017000850.1:c.410T>G
ATP13A2 transcript variant X9 XM_006710513.2:c.410= XM_006710513.2:c.410T>G
ATP13A2 transcript variant X6 XM_006710513.1:c.410= XM_006710513.1:c.410T>G
ATP13A2 transcript variant X23 XM_005245815.2:c.410= XM_005245815.2:c.410T>G
ATP13A2 transcript variant X11 XM_005245815.1:c.410= XM_005245815.1:c.410T>G
ATP13A2 transcript variant X31 XM_011541129.2:c.410= XM_011541129.2:c.410T>G
ATP13A2 transcript variant X14 XM_011541129.1:c.410= XM_011541129.1:c.410T>G
ATP13A2 transcript variant X14 XM_047416546.1:c.410= XM_047416546.1:c.410T>G
ATP13A2 transcript variant X15 XM_047416547.1:c.410= XM_047416547.1:c.410T>G
ATP13A2 transcript variant X16 XM_047416548.1:c.410= XM_047416548.1:c.410T>G
ATP13A2 transcript variant X18 XM_047416550.1:c.410= XM_047416550.1:c.410T>G
ATP13A2 transcript variant X20 XM_047416551.1:c.410= XM_047416551.1:c.410T>G
ATP13A2 transcript variant X21 XM_047416553.1:c.410= XM_047416553.1:c.410T>G
ATP13A2 transcript variant X25 XM_047416556.1:c.410= XM_047416556.1:c.410T>G
ATP13A2 transcript variant X27 XM_047416560.1:c.410= XM_047416560.1:c.410T>G
ATP13A2 transcript variant X29 XM_047416562.1:c.410= XM_047416562.1:c.410T>G
ATP13A2 transcript variant X33 XM_047416565.1:c.410= XM_047416565.1:c.410T>G
ATP13A2 transcript variant X8 XM_047416539.1:c.410= XM_047416539.1:c.410T>G
ATP13A2 transcript variant X7 XM_047416538.1:c.410= XM_047416538.1:c.410T>G
ATP13A2 transcript variant X36 XM_047416567.1:c.410= XM_047416567.1:c.410T>G
ATP13A2 transcript variant X10 XM_047416542.1:c.410= XM_047416542.1:c.410T>G
ATP13A2 transcript variant X37 XM_047416568.1:c.410= XM_047416568.1:c.410T>G
ATP13A2 transcript variant X38 XM_047416569.1:c.410= XM_047416569.1:c.410T>G
ATP13A2 transcript variant X39 XM_047416570.1:c.410= XM_047416570.1:c.410T>G
ATP13A2 transcript variant X40 XM_047416571.1:c.410= XM_047416571.1:c.410T>G
ATP13A2 transcript variant X24 XM_047416554.1:c.410= XM_047416554.1:c.410T>G
ATP13A2 transcript variant X32 XM_047416564.1:c.410= XM_047416564.1:c.410T>G
ATP13A2 transcript variant X34 XM_047416566.1:c.410= XM_047416566.1:c.410T>G
ATP13A2 transcript variant X17 XM_047416549.1:c.410= XM_047416549.1:c.410T>G
ATP13A2 transcript variant X5 XM_047416537.1:c.410= XM_047416537.1:c.410T>G
ATP13A2 transcript variant X30 XM_047416563.1:c.410= XM_047416563.1:c.410T>G
ATP13A2 transcript variant X11 XM_047416544.1:c.410= XM_047416544.1:c.410T>G
polyamine-transporting ATPase 13A2 isoform 1 NP_071372.1:p.Val137= NP_071372.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform 2 NP_001135445.1:p.Val137= NP_001135445.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform 3 NP_001135446.1:p.Val137= NP_001135446.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X12 XP_016856333.1:p.Val137= XP_016856333.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X13 XP_016856334.1:p.Val137= XP_016856334.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X19 XP_016856335.1:p.Val137= XP_016856335.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X22 XP_016856336.1:p.Val137= XP_016856336.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X26 XP_016856337.1:p.Val137= XP_016856337.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X28 XP_016856338.1:p.Val137= XP_016856338.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X1 XP_005245867.1:p.Val137= XP_005245867.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X3 XP_011539430.1:p.Val137= XP_011539430.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X2 XP_005245868.1:p.Val137= XP_005245868.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X4 XP_006710575.1:p.Val137= XP_006710575.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X6 XP_005245869.1:p.Val137= XP_005245869.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X35 XP_016856339.1:p.Val137= XP_016856339.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X9 XP_006710576.1:p.Val137= XP_006710576.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X23 XP_005245872.1:p.Val137= XP_005245872.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X31 XP_011539431.1:p.Val137= XP_011539431.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X14 XP_047272502.1:p.Val137= XP_047272502.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X15 XP_047272503.1:p.Val137= XP_047272503.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X16 XP_047272504.1:p.Val137= XP_047272504.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X18 XP_047272506.1:p.Val137= XP_047272506.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X20 XP_047272507.1:p.Val137= XP_047272507.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X21 XP_047272509.1:p.Val137= XP_047272509.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X25 XP_047272512.1:p.Val137= XP_047272512.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X27 XP_047272516.1:p.Val137= XP_047272516.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X29 XP_047272518.1:p.Val137= XP_047272518.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X33 XP_047272521.1:p.Val137= XP_047272521.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X8 XP_047272495.1:p.Val137= XP_047272495.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X7 XP_047272494.1:p.Val137= XP_047272494.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X36 XP_047272523.1:p.Val137= XP_047272523.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X10 XP_047272498.1:p.Val137= XP_047272498.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X37 XP_047272524.1:p.Val137= XP_047272524.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X38 XP_047272525.1:p.Val137= XP_047272525.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X39 XP_047272526.1:p.Val137= XP_047272526.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X40 XP_047272527.1:p.Val137= XP_047272527.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X24 XP_047272510.1:p.Val137= XP_047272510.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X32 XP_047272520.1:p.Val137= XP_047272520.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X34 XP_047272522.1:p.Val137= XP_047272522.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X17 XP_047272505.1:p.Val137= XP_047272505.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X5 XP_047272493.1:p.Val137= XP_047272493.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X30 XP_047272519.1:p.Val137= XP_047272519.1:p.Val137Gly
polyamine-transporting ATPase 13A2 isoform X11 XP_047272500.1:p.Val137= XP_047272500.1:p.Val137Gly
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 KOGIC ss3943928285 Apr 25, 2020 (154)
2 GNOMAD ss3989046089 Apr 27, 2021 (155)
3 TOPMED ss4440548003 Apr 27, 2021 (155)
4 gnomAD - Genomes NC_000001.11 - 17004759 Apr 27, 2021 (155)
5 Korean Genome Project NC_000001.11 - 17004759 Apr 25, 2020 (154)
6 TopMed NC_000001.11 - 17004759 Apr 27, 2021 (155)
7 ALFA NC_000001.11 - 17004759 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3706995, 306286, 4154338, 11936005113, ss3943928285, ss3989046089, ss4440548003 NC_000001.11:17004758:A:C NC_000001.11:17004758:A:C (self)
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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 rs1482100202

Help

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.

Software version is: 2.0.1.post820+afb47a3d