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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.

rs373762572

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:51974778 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000102 (27/264690, TOPMED)
A=0.000064 (9/140112, GnomAD)
A=0.001359 (164/120654, ExAC) (+ 5 more)
A=0.00025 (20/78700, PAGE_STUDY)
A=0.00009 (4/45444, ALFA)
A=0.00008 (1/12360, GO-ESP)
A=0.0019 (12/6404, 1000G_30x)
A=0.0022 (11/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ATP7B : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 61670 G=0.99992 A=0.00008
European Sub 42818 G=0.99995 A=0.00005
African Sub 8830 G=1.0000 A=0.0000
African Others Sub 306 G=1.000 A=0.000
African American Sub 8524 G=1.0000 A=0.0000
Asian Sub 202 G=1.000 A=0.000
East Asian Sub 146 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 498 G=1.000 A=0.000
Latin American 2 Sub 628 G=1.000 A=0.000
South Asian Sub 104 G=0.981 A=0.019
Other Sub 8590 G=0.9999 A=0.0001


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 G=0.999898 A=0.000102
gnomAD - Genomes Global Study-wide 140112 G=0.999936 A=0.000064
gnomAD - Genomes European Sub 75890 G=0.99997 A=0.00003
gnomAD - Genomes African Sub 41968 G=0.99986 A=0.00014
gnomAD - Genomes American Sub 13648 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9995 A=0.0005
ExAC Global Study-wide 120654 G=0.998641 A=0.001359
ExAC Europe Sub 73264 G=0.99995 A=0.00005
ExAC Asian Sub 25134 G=0.99403 A=0.00597
ExAC American Sub 11570 G=0.99948 A=0.00052
ExAC African Sub 9786 G=0.9999 A=0.0001
ExAC Other Sub 900 G=0.997 A=0.003
The PAGE Study Global Study-wide 78700 G=0.99975 A=0.00025
The PAGE Study AfricanAmerican Sub 32516 G=0.99978 A=0.00022
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9999 A=0.0001
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2448 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=0.986 A=0.014
Allele Frequency Aggregator Total Global 45444 G=0.99991 A=0.00009
Allele Frequency Aggregator European Sub 32858 G=0.99997 A=0.00003
Allele Frequency Aggregator Other Sub 7160 G=0.9999 A=0.0001
Allele Frequency Aggregator African Sub 3994 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 202 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 104 G=0.981 A=0.019
GO Exome Sequencing Project Global Study-wide 12360 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8354 G=0.9999 A=0.0001
GO Exome Sequencing Project African American Sub 4006 G=1.0000 A=0.0000
1000Genomes_30x Global Study-wide 6404 G=0.9981 A=0.0019
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.9900 A=0.0100
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9978 A=0.0022
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.989 A=0.011
1000Genomes American Sub 694 G=1.000 A=0.000
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 13 NC_000013.11:g.51974778G>A
GRCh38.p14 chr 13 NC_000013.11:g.51974778G>C
GRCh37.p13 chr 13 NC_000013.10:g.52548914G>A
GRCh37.p13 chr 13 NC_000013.10:g.52548914G>C
ATP7B RefSeqGene NG_008806.1:g.41717C>T
ATP7B RefSeqGene NG_008806.1:g.41717C>G
Gene: ATP7B, ATPase copper transporting beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP7B transcript variant 1 NM_000053.4:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform a NP_000044.2:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant 1 NM_000053.4:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform a NP_000044.2:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant 5 NM_001330579.2:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform e NP_001317508.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant 5 NM_001330579.2:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform e NP_001317508.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant 2 NM_001005918.3:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform b NP_001005918.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant 2 NM_001005918.3:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform b NP_001005918.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant 3 NM_001243182.2:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform c NP_001230111.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant 3 NM_001243182.2:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform c NP_001230111.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant 4 NM_001330578.2:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform d NP_001317507.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant 4 NM_001330578.2:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform d NP_001317507.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X13 XM_047430390.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X14 XM_047430391.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X15 XM_047430392.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X16 XM_047430393.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X1 XM_005266430.5:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X1 XP_005266487.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X1 XM_005266430.5:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X1 XP_005266487.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X2 XM_005266431.5:c.406C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X2 XP_005266488.1:p.Arg136Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X2 XM_005266431.5:c.406C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X2 XP_005266488.1:p.Arg136Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X3 XM_005266424.5:c.346C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266481.1:p.Arg116Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X3 XM_005266424.5:c.346C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266481.1:p.Arg116Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X4 XM_006719837.4:c.346C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_006719900.1:p.Arg116Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X4 XM_006719837.4:c.346C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_006719900.1:p.Arg116Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X5 XM_005266423.3:c.346C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266480.1:p.Arg116Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X5 XM_005266423.3:c.346C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266480.1:p.Arg116Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X6 XM_017020627.2:c.346C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_016876116.1:p.Arg116Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X6 XM_017020627.2:c.346C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_016876116.1:p.Arg116Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X7 XM_011535117.4:c.346C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_011533419.1:p.Arg116Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X7 XM_011535117.4:c.346C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_011533419.1:p.Arg116Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X8 XM_047430385.1:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X4 XP_047286341.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X8 XM_047430385.1:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X4 XP_047286341.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X9 XM_047430386.1:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X5 XP_047286342.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X9 XM_047430386.1:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X5 XP_047286342.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X10 XM_047430387.1:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X6 XP_047286343.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X10 XM_047430387.1:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X6 XP_047286343.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X11 XM_047430388.1:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X7 XP_047286344.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X11 XM_047430388.1:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X7 XP_047286344.1:p.Arg148Gly R (Arg) > G (Gly) Missense Variant
ATP7B transcript variant X12 XM_047430389.1:c.442C>T R [CGG] > W [TGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X8 XP_047286345.1:p.Arg148Trp R (Arg) > W (Trp) Missense Variant
ATP7B transcript variant X12 XM_047430389.1:c.442C>G R [CGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X8 XP_047286345.1:p.Arg148Gly R (Arg) > 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.

Allele: A (allele ID: 725511 )
ClinVar Accession Disease Names Clinical Significance
RCV000887015.10 Wilson disease Likely-Benign
RCV001585856.3 not provided Likely-Benign
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= A C
GRCh38.p14 chr 13 NC_000013.11:g.51974778= NC_000013.11:g.51974778G>A NC_000013.11:g.51974778G>C
GRCh37.p13 chr 13 NC_000013.10:g.52548914= NC_000013.10:g.52548914G>A NC_000013.10:g.52548914G>C
ATP7B RefSeqGene NG_008806.1:g.41717= NG_008806.1:g.41717C>T NG_008806.1:g.41717C>G
ATP7B transcript variant 1 NM_000053.4:c.442= NM_000053.4:c.442C>T NM_000053.4:c.442C>G
ATP7B transcript variant 1 NM_000053.3:c.442= NM_000053.3:c.442C>T NM_000053.3:c.442C>G
ATP7B transcript variant 2 NM_001005918.3:c.442= NM_001005918.3:c.442C>T NM_001005918.3:c.442C>G
ATP7B transcript variant 2 NM_001005918.2:c.442= NM_001005918.2:c.442C>T NM_001005918.2:c.442C>G
ATP7B transcript variant 4 NM_001330578.2:c.442= NM_001330578.2:c.442C>T NM_001330578.2:c.442C>G
ATP7B transcript variant 4 NM_001330578.1:c.442= NM_001330578.1:c.442C>T NM_001330578.1:c.442C>G
ATP7B transcript variant 5 NM_001330579.2:c.442= NM_001330579.2:c.442C>T NM_001330579.2:c.442C>G
ATP7B transcript variant 5 NM_001330579.1:c.442= NM_001330579.1:c.442C>T NM_001330579.1:c.442C>G
ATP7B transcript variant 3 NM_001243182.2:c.442= NM_001243182.2:c.442C>T NM_001243182.2:c.442C>G
ATP7B transcript variant 3 NM_001243182.1:c.442= NM_001243182.1:c.442C>T NM_001243182.1:c.442C>G
ATP7B transcript variant 7 NM_001406512.1:c.442= NM_001406512.1:c.442C>T NM_001406512.1:c.442C>G
ATP7B transcript variant 11 NM_001406516.1:c.442= NM_001406516.1:c.442C>T NM_001406516.1:c.442C>G
ATP7B transcript variant 26 NM_001406532.1:c.442= NM_001406532.1:c.442C>T NM_001406532.1:c.442C>G
ATP7B transcript variant 17 NM_001406522.1:c.442= NM_001406522.1:c.442C>T NM_001406522.1:c.442C>G
ATP7B transcript variant 13 NM_001406518.1:c.346= NM_001406518.1:c.346C>T NM_001406518.1:c.346C>G
ATP7B transcript variant 6 NM_001406511.1:c.442= NM_001406511.1:c.442C>T NM_001406511.1:c.442C>G
ATP7B transcript variant 8 NM_001406513.1:c.442= NM_001406513.1:c.442C>T NM_001406513.1:c.442C>G
ATP7B transcript variant 23 NM_001406528.1:c.442= NM_001406528.1:c.442C>T NM_001406528.1:c.442C>G
ATP7B transcript variant 9 NM_001406514.1:c.442= NM_001406514.1:c.442C>T NM_001406514.1:c.442C>G
ATP7B transcript variant 10 NM_001406515.1:c.442= NM_001406515.1:c.442C>T NM_001406515.1:c.442C>G
ATP7B transcript variant 16 NM_001406521.1:c.442= NM_001406521.1:c.442C>T NM_001406521.1:c.442C>G
ATP7B transcript variant 12 NM_001406517.1:c.346= NM_001406517.1:c.346C>T NM_001406517.1:c.346C>G
ATP7B transcript variant 14 NM_001406519.1:c.442= NM_001406519.1:c.442C>T NM_001406519.1:c.442C>G
ATP7B transcript variant 15 NM_001406520.1:c.442= NM_001406520.1:c.442C>T NM_001406520.1:c.442C>G
ATP7B transcript variant 18 NM_001406524.1:c.442= NM_001406524.1:c.442C>T NM_001406524.1:c.442C>G
ATP7B transcript variant 22 NM_001406527.1:c.442= NM_001406527.1:c.442C>T NM_001406527.1:c.442C>G
ATP7B transcript variant 19 NM_001406523.1:c.442= NM_001406523.1:c.442C>T NM_001406523.1:c.442C>G
ATP7B transcript variant 20 NM_001406525.1:c.442= NM_001406525.1:c.442C>T NM_001406525.1:c.442C>G
ATP7B transcript variant 25 NM_001406531.1:c.442= NM_001406531.1:c.442C>T NM_001406531.1:c.442C>G
ATP7B transcript variant 21 NM_001406526.1:c.442= NM_001406526.1:c.442C>T NM_001406526.1:c.442C>G
ATP7B transcript variant 24 NM_001406530.1:c.346= NM_001406530.1:c.346C>T NM_001406530.1:c.346C>G
ATP7B transcript variant 30 NM_001406537.1:c.442= NM_001406537.1:c.442C>T NM_001406537.1:c.442C>G
ATP7B transcript variant 27 NM_001406534.1:c.442= NM_001406534.1:c.442C>T NM_001406534.1:c.442C>G
ATP7B transcript variant 32 NM_001406539.1:c.346= NM_001406539.1:c.346C>T NM_001406539.1:c.346C>G
ATP7B transcript variant 36 NM_001406543.1:c.346= NM_001406543.1:c.346C>T NM_001406543.1:c.346C>G
ATP7B transcript variant 29 NM_001406536.1:c.346= NM_001406536.1:c.346C>T NM_001406536.1:c.346C>G
ATP7B transcript variant 28 NM_001406535.1:c.442= NM_001406535.1:c.442C>T NM_001406535.1:c.442C>G
ATP7B transcript variant 31 NM_001406538.1:c.442= NM_001406538.1:c.442C>T NM_001406538.1:c.442C>G
ATP7B transcript variant 34 NM_001406541.1:c.442= NM_001406541.1:c.442C>T NM_001406541.1:c.442C>G
ATP7B transcript variant 33 NM_001406540.1:c.442= NM_001406540.1:c.442C>T NM_001406540.1:c.442C>G
ATP7B transcript variant 35 NM_001406542.1:c.442= NM_001406542.1:c.442C>T NM_001406542.1:c.442C>G
ATP7B transcript variant 37 NM_001406544.1:c.346= NM_001406544.1:c.346C>T NM_001406544.1:c.346C>G
ATP7B transcript variant 38 NM_001406545.1:c.442= NM_001406545.1:c.442C>T NM_001406545.1:c.442C>G
ATP7B transcript variant 39 NM_001406546.1:c.442= NM_001406546.1:c.442C>T NM_001406546.1:c.442C>G
ATP7B transcript variant 40 NM_001406547.1:c.442= NM_001406547.1:c.442C>T NM_001406547.1:c.442C>G
ATP7B transcript variant 41 NM_001406548.1:c.442= NM_001406548.1:c.442C>T NM_001406548.1:c.442C>G
ATP7B transcript variant X1 XM_005266430.5:c.442= XM_005266430.5:c.442C>T XM_005266430.5:c.442C>G
ATP7B transcript variant X3 XM_005266424.5:c.346= XM_005266424.5:c.346C>T XM_005266424.5:c.346C>G
ATP7B transcript variant X4 XM_005266424.4:c.346= XM_005266424.4:c.346C>T XM_005266424.4:c.346C>G
ATP7B transcript variant X7 XM_005266424.3:c.346= XM_005266424.3:c.346C>T XM_005266424.3:c.346C>G
ATP7B transcript variant X2 XM_005266424.2:c.346= XM_005266424.2:c.346C>T XM_005266424.2:c.346C>G
ATP7B transcript variant X2 XM_005266424.1:c.346= XM_005266424.1:c.346C>T XM_005266424.1:c.346C>G
ATP7B transcript variant X2 XM_005266431.5:c.406= XM_005266431.5:c.406C>T XM_005266431.5:c.406C>G
ATP7B transcript variant X3 XM_005266431.4:c.406= XM_005266431.4:c.406C>T XM_005266431.4:c.406C>G
ATP7B transcript variant X12 XM_005266431.3:c.406= XM_005266431.3:c.406C>T XM_005266431.3:c.406C>G
ATP7B transcript variant X6 XM_005266431.2:c.406= XM_005266431.2:c.406C>T XM_005266431.2:c.406C>G
ATP7B transcript variant X9 XM_005266431.1:c.406= XM_005266431.1:c.406C>T XM_005266431.1:c.406C>G
ATP7B transcript variant X7 XM_011535117.4:c.346= XM_011535117.4:c.346C>T XM_011535117.4:c.346C>G
ATP7B transcript variant X7 XM_011535117.3:c.346= XM_011535117.3:c.346C>T XM_011535117.3:c.346C>G
ATP7B transcript variant X6 XM_011535117.2:c.346= XM_011535117.2:c.346C>T XM_011535117.2:c.346C>G
ATP7B transcript variant X10 XM_011535117.1:c.346= XM_011535117.1:c.346C>T XM_011535117.1:c.346C>G
ATP7B transcript variant X4 XM_006719837.4:c.346= XM_006719837.4:c.346C>T XM_006719837.4:c.346C>G
ATP7B transcript variant X5 XM_005266423.3:c.346= XM_005266423.3:c.346C>T XM_005266423.3:c.346C>G
ATP7B transcript variant X6 XM_005266423.2:c.346= XM_005266423.2:c.346C>T XM_005266423.2:c.346C>G
ATP7B transcript variant X1 XM_005266423.1:c.346= XM_005266423.1:c.346C>T XM_005266423.1:c.346C>G
ATP7B transcript variant X6 XM_017020627.2:c.346= XM_017020627.2:c.346C>T XM_017020627.2:c.346C>G
ATP7B transcript variant X8 XM_017020627.1:c.346= XM_017020627.1:c.346C>T XM_017020627.1:c.346C>G
ATP7B transcript variant X8 XM_047430385.1:c.442= XM_047430385.1:c.442C>T XM_047430385.1:c.442C>G
ATP7B transcript variant X10 XM_047430387.1:c.442= XM_047430387.1:c.442C>T XM_047430387.1:c.442C>G
ATP7B transcript variant X9 XM_047430386.1:c.442= XM_047430386.1:c.442C>T XM_047430386.1:c.442C>G
ATP7B transcript variant X11 XM_047430388.1:c.442= XM_047430388.1:c.442C>T XM_047430388.1:c.442C>G
ATP7B transcript variant X12 XM_047430389.1:c.442= XM_047430389.1:c.442C>T XM_047430389.1:c.442C>G
copper-transporting ATPase 2 isoform a NP_000044.2:p.Arg148= NP_000044.2:p.Arg148Trp NP_000044.2:p.Arg148Gly
copper-transporting ATPase 2 isoform b NP_001005918.1:p.Arg148= NP_001005918.1:p.Arg148Trp NP_001005918.1:p.Arg148Gly
copper-transporting ATPase 2 isoform d NP_001317507.1:p.Arg148= NP_001317507.1:p.Arg148Trp NP_001317507.1:p.Arg148Gly
copper-transporting ATPase 2 isoform e NP_001317508.1:p.Arg148= NP_001317508.1:p.Arg148Trp NP_001317508.1:p.Arg148Gly
copper-transporting ATPase 2 isoform c NP_001230111.1:p.Arg148= NP_001230111.1:p.Arg148Trp NP_001230111.1:p.Arg148Gly
copper-transporting ATPase 2 isoform X1 XP_005266487.1:p.Arg148= XP_005266487.1:p.Arg148Trp XP_005266487.1:p.Arg148Gly
copper-transporting ATPase 2 isoform X3 XP_005266481.1:p.Arg116= XP_005266481.1:p.Arg116Trp XP_005266481.1:p.Arg116Gly
copper-transporting ATPase 2 isoform X2 XP_005266488.1:p.Arg136= XP_005266488.1:p.Arg136Trp XP_005266488.1:p.Arg136Gly
copper-transporting ATPase 2 isoform X3 XP_011533419.1:p.Arg116= XP_011533419.1:p.Arg116Trp XP_011533419.1:p.Arg116Gly
copper-transporting ATPase 2 isoform X3 XP_006719900.1:p.Arg116= XP_006719900.1:p.Arg116Trp XP_006719900.1:p.Arg116Gly
copper-transporting ATPase 2 isoform X3 XP_005266480.1:p.Arg116= XP_005266480.1:p.Arg116Trp XP_005266480.1:p.Arg116Gly
copper-transporting ATPase 2 isoform X3 XP_016876116.1:p.Arg116= XP_016876116.1:p.Arg116Trp XP_016876116.1:p.Arg116Gly
copper-transporting ATPase 2 isoform X4 XP_047286341.1:p.Arg148= XP_047286341.1:p.Arg148Trp XP_047286341.1:p.Arg148Gly
copper-transporting ATPase 2 isoform X6 XP_047286343.1:p.Arg148= XP_047286343.1:p.Arg148Trp XP_047286343.1:p.Arg148Gly
copper-transporting ATPase 2 isoform X5 XP_047286342.1:p.Arg148= XP_047286342.1:p.Arg148Trp XP_047286342.1:p.Arg148Gly
copper-transporting ATPase 2 isoform X7 XP_047286344.1:p.Arg148= XP_047286344.1:p.Arg148Trp XP_047286344.1:p.Arg148Gly
copper-transporting ATPase 2 isoform X8 XP_047286345.1:p.Arg148= XP_047286345.1:p.Arg148Trp XP_047286345.1:p.Arg148Gly
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#.

23 SubSNP, 10 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713151328 Apr 25, 2013 (138)
2 SSIP ss926986144 Aug 21, 2014 (142)
3 1000GENOMES ss1348264412 Aug 21, 2014 (142)
4 EVA_EXAC ss1691297497 Apr 01, 2015 (144)
5 PADH-LAB_SPU ss1751331611 Sep 08, 2015 (146)
6 ILLUMINA ss1959502873 Feb 12, 2016 (147)
7 HUMAN_LONGEVITY ss2196420850 Dec 20, 2016 (150)
8 GNOMAD ss2740425644 Nov 08, 2017 (151)
9 GNOMAD ss2749050405 Nov 08, 2017 (151)
10 GNOMAD ss2919772543 Nov 08, 2017 (151)
11 ILLUMINA ss3021509997 Nov 08, 2017 (151)
12 ILLUMINA ss3651897710 Oct 12, 2018 (152)
13 EVA_DECODE ss3695313052 Jul 13, 2019 (153)
14 ILLUMINA ss3725395754 Jul 13, 2019 (153)
15 PAGE_CC ss3771747647 Jul 13, 2019 (153)
16 EVA ss3824811491 Apr 27, 2020 (154)
17 TOPMED ss4946676064 Apr 26, 2021 (155)
18 1000G_HIGH_COVERAGE ss5293770379 Oct 16, 2022 (156)
19 TRAN_CS_UWATERLOO ss5314437894 Oct 16, 2022 (156)
20 EVA ss5410835600 Oct 16, 2022 (156)
21 1000G_HIGH_COVERAGE ss5592738233 Oct 16, 2022 (156)
22 EVA ss5925150889 Oct 16, 2022 (156)
23 EVA ss5979419281 Oct 16, 2022 (156)
24 1000Genomes NC_000013.10 - 52548914 Oct 12, 2018 (152)
25 1000Genomes_30x NC_000013.11 - 51974778 Oct 16, 2022 (156)
26 ExAC NC_000013.10 - 52548914 Oct 12, 2018 (152)
27 gnomAD - Genomes NC_000013.11 - 51974778 Apr 26, 2021 (155)
28 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9670940 (NC_000013.10:52548913:G:G 248970/249248, NC_000013.10:52548913:G:A 278/249248)
Row 9670941 (NC_000013.10:52548913:G:G 249246/249248, NC_000013.10:52548913:G:C 2/249248)

- Jul 13, 2019 (153)
29 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9670940 (NC_000013.10:52548913:G:G 248970/249248, NC_000013.10:52548913:G:A 278/249248)
Row 9670941 (NC_000013.10:52548913:G:G 249246/249248, NC_000013.10:52548913:G:C 2/249248)

- Jul 13, 2019 (153)
30 GO Exome Sequencing Project NC_000013.10 - 52548914 Oct 12, 2018 (152)
31 The PAGE Study NC_000013.11 - 51974778 Jul 13, 2019 (153)
32 TopMed NC_000013.11 - 51974778 Apr 26, 2021 (155)
33 ALFA NC_000013.11 - 51974778 Apr 26, 2021 (155)
34 ClinVar RCV000887015.10 Oct 16, 2022 (156)
35 ClinVar RCV001585856.3 Oct 16, 2022 (156)
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
61137571, 1627400, 1268871, ss713151328, ss926986144, ss1348264412, ss1691297497, ss1751331611, ss1959502873, ss2740425644, ss2749050405, ss2919772543, ss3021509997, ss3651897710, ss3824811491, ss5410835600, ss5979419281 NC_000013.10:52548913:G:A NC_000013.11:51974777:G:A (self)
RCV000887015.10, RCV001585856.3, 80264168, 431035433, 969116, 162221722, 2256123137, ss2196420850, ss3695313052, ss3725395754, ss3771747647, ss4946676064, ss5293770379, ss5314437894, ss5592738233, ss5925150889 NC_000013.11:51974777:G:A NC_000013.11:51974777:G:A (self)
ss2740425644 NC_000013.10:52548913:G:C NC_000013.11:51974777:G:C (self)
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 rs373762572

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
Top 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.

Software version is: 2.0.1.post761+d5e8e07