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.
rs34079114
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:50444619-50444628 (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
-
del(T)5 / del(T)4 / delTTT / delTT…
del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)5
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delT=0.2000 (1740/8700, ALFA)(T)10=0.4922 (2465/5008, 1000G)delT=0.4523 (825/1824, Korea1K) (+ 2 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
PPP6R2 : 3 Prime UTR VariantSBF1 : 500B Downstream 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 | 8700 | TTTTTTTTTT=0.7995 | TTTTT=0.0000, TTTTTT=0.0000, TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.2000, TTTTTTTTTTT=0.0003, TTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTT=0.0000 | 0.687601 | 0.087417 | 0.224983 | 32 |
| European | Sub | 7804 | TTTTTTTTTT=0.7772 | TTTTT=0.0000, TTTTTT=0.0000, TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.2223, TTTTTTTTTTT=0.0004, TTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTT=0.0000 | 0.652731 | 0.097204 | 0.250064 | 32 |
| African | Sub | 318 | TTTTTTTTTT=1.000 | TTTTT=0.000, TTTTTT=0.000, TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 16 | TTTTTTTTTT=1.00 | TTTTT=0.00, TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 302 | TTTTTTTTTT=1.000 | TTTTT=0.000, TTTTTT=0.000, TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 54 | TTTTTTTTTT=1.00 | TTTTT=0.00, TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 38 | TTTTTTTTTT=1.00 | TTTTT=0.00, TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 16 | TTTTTTTTTT=1.00 | TTTTT=0.00, TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 66 | TTTTTTTTTT=1.00 | TTTTT=0.00, TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 254 | TTTTTTTTTT=1.000 | TTTTT=0.000, TTTTTT=0.000, TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 62 | TTTTTTTTTT=1.00 | TTTTT=0.00, TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 142 | TTTTTTTTTT=0.965 | TTTTT=0.000, TTTTTT=0.000, TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.035, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 | 0.943662 | 0.014085 | 0.042254 | 6 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 8700 | (T)10=0.7995 | del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.2000, dupT=0.0003, dupTT=0.0001, dup(T)5=0.0000 |
| Allele Frequency Aggregator | European | Sub | 7804 | (T)10=0.7772 | del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.2223, dupT=0.0004, dupTT=0.0001, dup(T)5=0.0000 |
| Allele Frequency Aggregator | African | Sub | 318 | (T)10=1.000 | del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)5=0.000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 254 | (T)10=1.000 | del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)5=0.000 |
| Allele Frequency Aggregator | Other | Sub | 142 | (T)10=0.965 | del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.035, dupT=0.000, dupTT=0.000, dup(T)5=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 66 | (T)10=1.00 | del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)5=0.00 |
| Allele Frequency Aggregator | South Asian | Sub | 62 | (T)10=1.00 | del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)5=0.00 |
| Allele Frequency Aggregator | Asian | Sub | 54 | (T)10=1.00 | del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)5=0.00 |
| 1000Genomes | Global | Study-wide | 5008 | (T)10=0.4922 | delT=0.5078 |
| 1000Genomes | African | Sub | 1322 | (T)10=0.1899 | delT=0.8101 |
| 1000Genomes | East Asian | Sub | 1008 | (T)10=0.5933 | delT=0.4067 |
| 1000Genomes | Europe | Sub | 1006 | (T)10=0.5050 | delT=0.4950 |
| 1000Genomes | South Asian | Sub | 978 | (T)10=0.736 | delT=0.264 |
| 1000Genomes | American | Sub | 694 | (T)10=0.559 | delT=0.441 |
| Korean Genome Project | KOREAN | Study-wide | 1824 | (T)10=0.5477 | delT=0.4523 |
| Northern Sweden | ACPOP | Study-wide | 596 | (T)10=0.586 | delT=0.414 |
| The Danish reference pan genome | Danish | Study-wide | 40 | (T)10=0.62 | delT=0.38 |
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 22 | NC_000022.11:g.50444624_50444628del |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444625_50444628del |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444626_50444628del |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444627_50444628del |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444628del |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444628dup |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444627_50444628dup |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444626_50444628dup |
| GRCh38.p14 chr 22 | NC_000022.11:g.50444624_50444628dup |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883053_50883057del |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883054_50883057del |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883055_50883057del |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883056_50883057del |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883057del |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883057dup |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883056_50883057dup |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883055_50883057dup |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883053_50883057dup |
| PPP6R2 RefSeqGene | NG_054883.1:g.106308_106312del |
| PPP6R2 RefSeqGene | NG_054883.1:g.106309_106312del |
| PPP6R2 RefSeqGene | NG_054883.1:g.106310_106312del |
| PPP6R2 RefSeqGene | NG_054883.1:g.106311_106312del |
| PPP6R2 RefSeqGene | NG_054883.1:g.106312del |
| PPP6R2 RefSeqGene | NG_054883.1:g.106312dup |
| PPP6R2 RefSeqGene | NG_054883.1:g.106311_106312dup |
| PPP6R2 RefSeqGene | NG_054883.1:g.106310_106312dup |
| PPP6R2 RefSeqGene | NG_054883.1:g.106308_106312dup |
| SBF1 RefSeqGene | NG_041810.1:g.35449_35453del |
| SBF1 RefSeqGene | NG_041810.1:g.35450_35453del |
| SBF1 RefSeqGene | NG_041810.1:g.35451_35453del |
| SBF1 RefSeqGene | NG_041810.1:g.35452_35453del |
| SBF1 RefSeqGene | NG_041810.1:g.35453del |
| SBF1 RefSeqGene | NG_041810.1:g.35453dup |
| SBF1 RefSeqGene | NG_041810.1:g.35452_35453dup |
| SBF1 RefSeqGene | NG_041810.1:g.35451_35453dup |
| SBF1 RefSeqGene | NG_041810.1:g.35449_35453dup |
Gene: PPP6R2, protein phosphatase 6 regulatory subunit 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PPP6R2 transcript variant 13 |
NM_001365836.1:c.*372_*38… NM_001365836.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 1 |
NM_001242898.2:c.*372_*38… NM_001242898.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 6 |
NM_001351642.2:c.*372_*38… NM_001351642.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 2 |
NM_001242899.2:c.*372_*38… NM_001242899.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 9 |
NM_001351645.2:c.*372_*38… NM_001351645.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 5 |
NM_001351641.2:c.*372_*38… NM_001351641.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 3 | NM_014678.5:c.*372_*381= | N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 4 |
NM_001242900.2:c.*386_*39… NM_001242900.2:c.*386_*395= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 12 |
NM_001351648.2:c.*372_*38… NM_001351648.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 7 |
NM_001351643.2:c.*372_*38… NM_001351643.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 8 |
NM_001351644.2:c.*372_*38… NM_001351644.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 10 |
NM_001351646.2:c.*372_*38… NM_001351646.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant 11 |
NM_001351647.2:c.*372_*38… NM_001351647.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X1 |
XM_047441638.1:c.*372_*38… XM_047441638.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X2 |
XM_011530720.3:c.*372_*38… XM_011530720.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X3 |
XM_011530721.3:c.*372_*38… XM_011530721.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X4 |
XM_011530722.3:c.*372_*38… XM_011530722.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X5 |
XM_011530723.3:c.*372_*38… XM_011530723.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X6 |
XM_024452306.2:c.*372_*38… XM_024452306.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X7 |
XM_011530724.3:c.*372_*38… XM_011530724.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X8 |
XM_047441639.1:c.*372_*38… XM_047441639.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X10 |
XM_011530726.3:c.*372_*38… XM_011530726.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X11 |
XM_047441641.1:c.*372_*38… XM_047441641.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X12 |
XM_011530727.3:c.*372_*38… XM_011530727.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X13 |
XM_017029116.2:c.*372_*38… XM_017029116.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X14 |
XM_011530728.3:c.*372_*38… XM_011530728.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X15 |
XM_011530729.3:c.*372_*38… XM_011530729.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X16 |
XM_011530730.3:c.*372_*38… XM_011530730.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X17 |
XM_011530731.2:c.*372_*38… XM_011530731.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X18 |
XM_011530734.3:c.*372_*38… XM_011530734.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X19 |
XM_011530732.3:c.*372_*38… XM_011530732.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X20 |
XM_047441642.1:c.*372_*38… XM_047441642.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X21 |
XM_047441643.1:c.*372_*38… XM_047441643.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X22 |
XM_047441644.1:c.*372_*38… XM_047441644.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X23 |
XM_047441645.1:c.*372_*38… XM_047441645.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X24 |
XM_047441646.1:c.*372_*38… XM_047441646.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X25 |
XM_047441647.1:c.*372_*38… XM_047441647.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X26 |
XM_047441648.1:c.*372_*38… XM_047441648.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X27 |
XM_047441649.1:c.*372_*38… XM_047441649.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X28 |
XM_047441650.1:c.*372_*38… XM_047441650.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X29 |
XM_017029120.2:c.*372_*38… XM_017029120.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X30 |
XM_047441651.1:c.*372_*38… XM_047441651.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X31 |
XM_047441652.1:c.*372_*38… XM_047441652.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X32 |
XM_047441653.1:c.*372_*38… XM_047441653.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X33 |
XM_047441654.1:c.*372_*38… XM_047441654.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X34 |
XM_011530736.4:c.*372_*38… XM_011530736.4:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X35 |
XM_011530737.3:c.*372_*38… XM_011530737.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X36 |
XM_011530739.3:c.*372_*38… XM_011530739.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X37 |
XM_006724431.4:c.*372_*38… XM_006724431.4:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X38 |
XM_047441655.1:c.*372_*38… XM_047441655.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X39 |
XM_047441656.1:c.*372_*38… XM_047441656.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X40 |
XM_047441657.1:c.*372_*38… XM_047441657.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X41 |
XM_047441658.1:c.*372_*38… XM_047441658.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X42 |
XM_047441659.1:c.*372_*38… XM_047441659.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X43 |
XM_047441660.1:c.*372_*38… XM_047441660.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X44 |
XM_047441661.1:c.*372_*38… XM_047441661.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X45 |
XM_011530740.3:c.*372_*38… XM_011530740.3:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X46 |
XM_047441662.1:c.*372_*38… XM_047441662.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X47 |
XM_017029133.2:c.*372_*38… XM_017029133.2:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X48 |
XM_047441663.1:c.*372_*38… XM_047441663.1:c.*372_*381= |
N/A | 3 Prime UTR Variant |
| PPP6R2 transcript variant X9 | XM_047441640.1:c. | N/A | Genic Downstream Transcript Variant |
Gene: SBF1, SET binding factor 1
(minus strand)
:
500B Downstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SBF1 transcript variant 2 | NM_001365819.1:c. | N/A | Downstream Transcript Variant |
| SBF1 transcript variant 1 | NM_002972.4:c. | N/A | Downstream Transcript Variant |
| SBF1 transcript variant X2 | XM_005261935.3:c. | N/A | Downstream Transcript Variant |
| SBF1 transcript variant X1 | XM_047441454.1:c. | N/A | Downstream Transcript 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 | (T)10= | del(T)5 | del(T)4 | delTTT | delTT | delT | dupT | dupTT | dupTTT | dup(T)5 |
|---|---|---|---|---|---|---|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.50444619_50444628= | NC_000022.11:g.50444624_50444628del | NC_000022.11:g.50444625_50444628del | NC_000022.11:g.50444626_50444628del | NC_000022.11:g.50444627_50444628del | NC_000022.11:g.50444628del | NC_000022.11:g.50444628dup | NC_000022.11:g.50444627_50444628dup | NC_000022.11:g.50444626_50444628dup | NC_000022.11:g.50444624_50444628dup |
| GRCh37.p13 chr 22 | NC_000022.10:g.50883048_50883057= | NC_000022.10:g.50883053_50883057del | NC_000022.10:g.50883054_50883057del | NC_000022.10:g.50883055_50883057del | NC_000022.10:g.50883056_50883057del | NC_000022.10:g.50883057del | NC_000022.10:g.50883057dup | NC_000022.10:g.50883056_50883057dup | NC_000022.10:g.50883055_50883057dup | NC_000022.10:g.50883053_50883057dup |
| PPP6R2 RefSeqGene | NG_054883.1:g.106303_106312= | NG_054883.1:g.106308_106312del | NG_054883.1:g.106309_106312del | NG_054883.1:g.106310_106312del | NG_054883.1:g.106311_106312del | NG_054883.1:g.106312del | NG_054883.1:g.106312dup | NG_054883.1:g.106311_106312dup | NG_054883.1:g.106310_106312dup | NG_054883.1:g.106308_106312dup |
| PPP6R2 transcript variant 3 | NM_014678.5:c.*372_*381= | NM_014678.5:c.*377_*381del | NM_014678.5:c.*378_*381del | NM_014678.5:c.*379_*381del | NM_014678.5:c.*380_*381del | NM_014678.5:c.*381del | NM_014678.5:c.*381dup | NM_014678.5:c.*380_*381dup | NM_014678.5:c.*379_*381dup | NM_014678.5:c.*377_*381dup |
| PPP6R2 transcript variant 3 | NM_014678.4:c.*372_*381= | NM_014678.4:c.*377_*381del | NM_014678.4:c.*378_*381del | NM_014678.4:c.*379_*381del | NM_014678.4:c.*380_*381del | NM_014678.4:c.*381del | NM_014678.4:c.*381dup | NM_014678.4:c.*380_*381dup | NM_014678.4:c.*379_*381dup | NM_014678.4:c.*377_*381dup |
| PPP6R2 transcript variant 7 | NM_001351643.2:c.*372_*381= | NM_001351643.2:c.*377_*381del | NM_001351643.2:c.*378_*381del | NM_001351643.2:c.*379_*381del | NM_001351643.2:c.*380_*381del | NM_001351643.2:c.*381del | NM_001351643.2:c.*381dup | NM_001351643.2:c.*380_*381dup | NM_001351643.2:c.*379_*381dup | NM_001351643.2:c.*377_*381dup |
| PPP6R2 transcript variant 7 | NM_001351643.1:c.*372_*381= | NM_001351643.1:c.*377_*381del | NM_001351643.1:c.*378_*381del | NM_001351643.1:c.*379_*381del | NM_001351643.1:c.*380_*381del | NM_001351643.1:c.*381del | NM_001351643.1:c.*381dup | NM_001351643.1:c.*380_*381dup | NM_001351643.1:c.*379_*381dup | NM_001351643.1:c.*377_*381dup |
| PPP6R2 transcript variant 9 | NM_001351645.2:c.*372_*381= | NM_001351645.2:c.*377_*381del | NM_001351645.2:c.*378_*381del | NM_001351645.2:c.*379_*381del | NM_001351645.2:c.*380_*381del | NM_001351645.2:c.*381del | NM_001351645.2:c.*381dup | NM_001351645.2:c.*380_*381dup | NM_001351645.2:c.*379_*381dup | NM_001351645.2:c.*377_*381dup |
| PPP6R2 transcript variant 9 | NM_001351645.1:c.*372_*381= | NM_001351645.1:c.*377_*381del | NM_001351645.1:c.*378_*381del | NM_001351645.1:c.*379_*381del | NM_001351645.1:c.*380_*381del | NM_001351645.1:c.*381del | NM_001351645.1:c.*381dup | NM_001351645.1:c.*380_*381dup | NM_001351645.1:c.*379_*381dup | NM_001351645.1:c.*377_*381dup |
| PPP6R2 transcript variant 6 | NM_001351642.2:c.*372_*381= | NM_001351642.2:c.*377_*381del | NM_001351642.2:c.*378_*381del | NM_001351642.2:c.*379_*381del | NM_001351642.2:c.*380_*381del | NM_001351642.2:c.*381del | NM_001351642.2:c.*381dup | NM_001351642.2:c.*380_*381dup | NM_001351642.2:c.*379_*381dup | NM_001351642.2:c.*377_*381dup |
| PPP6R2 transcript variant 6 | NM_001351642.1:c.*372_*381= | NM_001351642.1:c.*377_*381del | NM_001351642.1:c.*378_*381del | NM_001351642.1:c.*379_*381del | NM_001351642.1:c.*380_*381del | NM_001351642.1:c.*381del | NM_001351642.1:c.*381dup | NM_001351642.1:c.*380_*381dup | NM_001351642.1:c.*379_*381dup | NM_001351642.1:c.*377_*381dup |
| PPP6R2 transcript variant 5 | NM_001351641.2:c.*372_*381= | NM_001351641.2:c.*377_*381del | NM_001351641.2:c.*378_*381del | NM_001351641.2:c.*379_*381del | NM_001351641.2:c.*380_*381del | NM_001351641.2:c.*381del | NM_001351641.2:c.*381dup | NM_001351641.2:c.*380_*381dup | NM_001351641.2:c.*379_*381dup | NM_001351641.2:c.*377_*381dup |
| PPP6R2 transcript variant 5 | NM_001351641.1:c.*372_*381= | NM_001351641.1:c.*377_*381del | NM_001351641.1:c.*378_*381del | NM_001351641.1:c.*379_*381del | NM_001351641.1:c.*380_*381del | NM_001351641.1:c.*381del | NM_001351641.1:c.*381dup | NM_001351641.1:c.*380_*381dup | NM_001351641.1:c.*379_*381dup | NM_001351641.1:c.*377_*381dup |
| PPP6R2 transcript variant 1 | NM_001242898.2:c.*372_*381= | NM_001242898.2:c.*377_*381del | NM_001242898.2:c.*378_*381del | NM_001242898.2:c.*379_*381del | NM_001242898.2:c.*380_*381del | NM_001242898.2:c.*381del | NM_001242898.2:c.*381dup | NM_001242898.2:c.*380_*381dup | NM_001242898.2:c.*379_*381dup | NM_001242898.2:c.*377_*381dup |
| PPP6R2 transcript variant 1 | NM_001242898.1:c.*372_*381= | NM_001242898.1:c.*377_*381del | NM_001242898.1:c.*378_*381del | NM_001242898.1:c.*379_*381del | NM_001242898.1:c.*380_*381del | NM_001242898.1:c.*381del | NM_001242898.1:c.*381dup | NM_001242898.1:c.*380_*381dup | NM_001242898.1:c.*379_*381dup | NM_001242898.1:c.*377_*381dup |
| PPP6R2 transcript variant 11 | NM_001351647.2:c.*372_*381= | NM_001351647.2:c.*377_*381del | NM_001351647.2:c.*378_*381del | NM_001351647.2:c.*379_*381del | NM_001351647.2:c.*380_*381del | NM_001351647.2:c.*381del | NM_001351647.2:c.*381dup | NM_001351647.2:c.*380_*381dup | NM_001351647.2:c.*379_*381dup | NM_001351647.2:c.*377_*381dup |
| PPP6R2 transcript variant 11 | NM_001351647.1:c.*372_*381= | NM_001351647.1:c.*377_*381del | NM_001351647.1:c.*378_*381del | NM_001351647.1:c.*379_*381del | NM_001351647.1:c.*380_*381del | NM_001351647.1:c.*381del | NM_001351647.1:c.*381dup | NM_001351647.1:c.*380_*381dup | NM_001351647.1:c.*379_*381dup | NM_001351647.1:c.*377_*381dup |
| PPP6R2 transcript variant 8 | NM_001351644.2:c.*372_*381= | NM_001351644.2:c.*377_*381del | NM_001351644.2:c.*378_*381del | NM_001351644.2:c.*379_*381del | NM_001351644.2:c.*380_*381del | NM_001351644.2:c.*381del | NM_001351644.2:c.*381dup | NM_001351644.2:c.*380_*381dup | NM_001351644.2:c.*379_*381dup | NM_001351644.2:c.*377_*381dup |
| PPP6R2 transcript variant 8 | NM_001351644.1:c.*372_*381= | NM_001351644.1:c.*377_*381del | NM_001351644.1:c.*378_*381del | NM_001351644.1:c.*379_*381del | NM_001351644.1:c.*380_*381del | NM_001351644.1:c.*381del | NM_001351644.1:c.*381dup | NM_001351644.1:c.*380_*381dup | NM_001351644.1:c.*379_*381dup | NM_001351644.1:c.*377_*381dup |
| PPP6R2 transcript variant 2 | NM_001242899.2:c.*372_*381= | NM_001242899.2:c.*377_*381del | NM_001242899.2:c.*378_*381del | NM_001242899.2:c.*379_*381del | NM_001242899.2:c.*380_*381del | NM_001242899.2:c.*381del | NM_001242899.2:c.*381dup | NM_001242899.2:c.*380_*381dup | NM_001242899.2:c.*379_*381dup | NM_001242899.2:c.*377_*381dup |
| PPP6R2 transcript variant 2 | NM_001242899.1:c.*372_*381= | NM_001242899.1:c.*377_*381del | NM_001242899.1:c.*378_*381del | NM_001242899.1:c.*379_*381del | NM_001242899.1:c.*380_*381del | NM_001242899.1:c.*381del | NM_001242899.1:c.*381dup | NM_001242899.1:c.*380_*381dup | NM_001242899.1:c.*379_*381dup | NM_001242899.1:c.*377_*381dup |
| PPP6R2 transcript variant 4 | NM_001242900.2:c.*386_*395= | NM_001242900.2:c.*391_*395del | NM_001242900.2:c.*392_*395del | NM_001242900.2:c.*393_*395del | NM_001242900.2:c.*394_*395del | NM_001242900.2:c.*395del | NM_001242900.2:c.*395dup | NM_001242900.2:c.*394_*395dup | NM_001242900.2:c.*393_*395dup | NM_001242900.2:c.*391_*395dup |
| PPP6R2 transcript variant 4 | NM_001242900.1:c.*386_*395= | NM_001242900.1:c.*391_*395del | NM_001242900.1:c.*392_*395del | NM_001242900.1:c.*393_*395del | NM_001242900.1:c.*394_*395del | NM_001242900.1:c.*395del | NM_001242900.1:c.*395dup | NM_001242900.1:c.*394_*395dup | NM_001242900.1:c.*393_*395dup | NM_001242900.1:c.*391_*395dup |
| PPP6R2 transcript variant 10 | NM_001351646.2:c.*372_*381= | NM_001351646.2:c.*377_*381del | NM_001351646.2:c.*378_*381del | NM_001351646.2:c.*379_*381del | NM_001351646.2:c.*380_*381del | NM_001351646.2:c.*381del | NM_001351646.2:c.*381dup | NM_001351646.2:c.*380_*381dup | NM_001351646.2:c.*379_*381dup | NM_001351646.2:c.*377_*381dup |
| PPP6R2 transcript variant 10 | NM_001351646.1:c.*372_*381= | NM_001351646.1:c.*377_*381del | NM_001351646.1:c.*378_*381del | NM_001351646.1:c.*379_*381del | NM_001351646.1:c.*380_*381del | NM_001351646.1:c.*381del | NM_001351646.1:c.*381dup | NM_001351646.1:c.*380_*381dup | NM_001351646.1:c.*379_*381dup | NM_001351646.1:c.*377_*381dup |
| PPP6R2 transcript variant 12 | NM_001351648.2:c.*372_*381= | NM_001351648.2:c.*377_*381del | NM_001351648.2:c.*378_*381del | NM_001351648.2:c.*379_*381del | NM_001351648.2:c.*380_*381del | NM_001351648.2:c.*381del | NM_001351648.2:c.*381dup | NM_001351648.2:c.*380_*381dup | NM_001351648.2:c.*379_*381dup | NM_001351648.2:c.*377_*381dup |
| PPP6R2 transcript variant 12 | NM_001351648.1:c.*372_*381= | NM_001351648.1:c.*377_*381del | NM_001351648.1:c.*378_*381del | NM_001351648.1:c.*379_*381del | NM_001351648.1:c.*380_*381del | NM_001351648.1:c.*381del | NM_001351648.1:c.*381dup | NM_001351648.1:c.*380_*381dup | NM_001351648.1:c.*379_*381dup | NM_001351648.1:c.*377_*381dup |
| PPP6R2 transcript variant 13 | NM_001365836.1:c.*372_*381= | NM_001365836.1:c.*377_*381del | NM_001365836.1:c.*378_*381del | NM_001365836.1:c.*379_*381del | NM_001365836.1:c.*380_*381del | NM_001365836.1:c.*381del | NM_001365836.1:c.*381dup | NM_001365836.1:c.*380_*381dup | NM_001365836.1:c.*379_*381dup | NM_001365836.1:c.*377_*381dup |
| SBF1 RefSeqGene | NG_041810.1:g.35444_35453= | NG_041810.1:g.35449_35453del | NG_041810.1:g.35450_35453del | NG_041810.1:g.35451_35453del | NG_041810.1:g.35452_35453del | NG_041810.1:g.35453del | NG_041810.1:g.35453dup | NG_041810.1:g.35452_35453dup | NG_041810.1:g.35451_35453dup | NG_041810.1:g.35449_35453dup |
| PPP6R2 transcript variant X34 | XM_011530736.4:c.*372_*381= | XM_011530736.4:c.*377_*381del | XM_011530736.4:c.*378_*381del | XM_011530736.4:c.*379_*381del | XM_011530736.4:c.*380_*381del | XM_011530736.4:c.*381del | XM_011530736.4:c.*381dup | XM_011530736.4:c.*380_*381dup | XM_011530736.4:c.*379_*381dup | XM_011530736.4:c.*377_*381dup |
| PPP6R2 transcript variant X21 | XM_011530736.3:c.*372_*381= | XM_011530736.3:c.*377_*381del | XM_011530736.3:c.*378_*381del | XM_011530736.3:c.*379_*381del | XM_011530736.3:c.*380_*381del | XM_011530736.3:c.*381del | XM_011530736.3:c.*381dup | XM_011530736.3:c.*380_*381dup | XM_011530736.3:c.*379_*381dup | XM_011530736.3:c.*377_*381dup |
| PPP6R2 transcript variant X20 | XM_011530736.2:c.*372_*381= | XM_011530736.2:c.*377_*381del | XM_011530736.2:c.*378_*381del | XM_011530736.2:c.*379_*381del | XM_011530736.2:c.*380_*381del | XM_011530736.2:c.*381del | XM_011530736.2:c.*381dup | XM_011530736.2:c.*380_*381dup | XM_011530736.2:c.*379_*381dup | XM_011530736.2:c.*377_*381dup |
| PPP6R2 transcript variant X37 | XM_006724431.4:c.*372_*381= | XM_006724431.4:c.*377_*381del | XM_006724431.4:c.*378_*381del | XM_006724431.4:c.*379_*381del | XM_006724431.4:c.*380_*381del | XM_006724431.4:c.*381del | XM_006724431.4:c.*381dup | XM_006724431.4:c.*380_*381dup | XM_006724431.4:c.*379_*381dup | XM_006724431.4:c.*377_*381dup |
| PPP6R2 transcript variant X26 | XM_006724431.3:c.*372_*381= | XM_006724431.3:c.*377_*381del | XM_006724431.3:c.*378_*381del | XM_006724431.3:c.*379_*381del | XM_006724431.3:c.*380_*381del | XM_006724431.3:c.*381del | XM_006724431.3:c.*381dup | XM_006724431.3:c.*380_*381dup | XM_006724431.3:c.*379_*381dup | XM_006724431.3:c.*377_*381dup |
| PPP6R2 transcript variant X25 | XM_006724431.2:c.*372_*381= | XM_006724431.2:c.*377_*381del | XM_006724431.2:c.*378_*381del | XM_006724431.2:c.*379_*381del | XM_006724431.2:c.*380_*381del | XM_006724431.2:c.*381del | XM_006724431.2:c.*381dup | XM_006724431.2:c.*380_*381dup | XM_006724431.2:c.*379_*381dup | XM_006724431.2:c.*377_*381dup |
| PPP6R2 transcript variant X35 | XM_011530737.3:c.*372_*381= | XM_011530737.3:c.*377_*381del | XM_011530737.3:c.*378_*381del | XM_011530737.3:c.*379_*381del | XM_011530737.3:c.*380_*381del | XM_011530737.3:c.*381del | XM_011530737.3:c.*381dup | XM_011530737.3:c.*380_*381dup | XM_011530737.3:c.*379_*381dup | XM_011530737.3:c.*377_*381dup |
| PPP6R2 transcript variant X22 | XM_011530737.2:c.*372_*381= | XM_011530737.2:c.*377_*381del | XM_011530737.2:c.*378_*381del | XM_011530737.2:c.*379_*381del | XM_011530737.2:c.*380_*381del | XM_011530737.2:c.*381del | XM_011530737.2:c.*381dup | XM_011530737.2:c.*380_*381dup | XM_011530737.2:c.*379_*381dup | XM_011530737.2:c.*377_*381dup |
| PPP6R2 transcript variant X19 | XM_011530732.3:c.*372_*381= | XM_011530732.3:c.*377_*381del | XM_011530732.3:c.*378_*381del | XM_011530732.3:c.*379_*381del | XM_011530732.3:c.*380_*381del | XM_011530732.3:c.*381del | XM_011530732.3:c.*381dup | XM_011530732.3:c.*380_*381dup | XM_011530732.3:c.*379_*381dup | XM_011530732.3:c.*377_*381dup |
| PPP6R2 transcript variant X15 | XM_011530732.2:c.*372_*381= | XM_011530732.2:c.*377_*381del | XM_011530732.2:c.*378_*381del | XM_011530732.2:c.*379_*381del | XM_011530732.2:c.*380_*381del | XM_011530732.2:c.*381del | XM_011530732.2:c.*381dup | XM_011530732.2:c.*380_*381dup | XM_011530732.2:c.*379_*381dup | XM_011530732.2:c.*377_*381dup |
| PPP6R2 transcript variant X18 | XM_011530734.3:c.*372_*381= | XM_011530734.3:c.*377_*381del | XM_011530734.3:c.*378_*381del | XM_011530734.3:c.*379_*381del | XM_011530734.3:c.*380_*381del | XM_011530734.3:c.*381del | XM_011530734.3:c.*381dup | XM_011530734.3:c.*380_*381dup | XM_011530734.3:c.*379_*381dup | XM_011530734.3:c.*377_*381dup |
| PPP6R2 transcript variant X18 | XM_011530734.2:c.*372_*381= | XM_011530734.2:c.*377_*381del | XM_011530734.2:c.*378_*381del | XM_011530734.2:c.*379_*381del | XM_011530734.2:c.*380_*381del | XM_011530734.2:c.*381del | XM_011530734.2:c.*381dup | XM_011530734.2:c.*380_*381dup | XM_011530734.2:c.*379_*381dup | XM_011530734.2:c.*377_*381dup |
| PPP6R2 transcript variant X3 | XM_011530721.3:c.*372_*381= | XM_011530721.3:c.*377_*381del | XM_011530721.3:c.*378_*381del | XM_011530721.3:c.*379_*381del | XM_011530721.3:c.*380_*381del | XM_011530721.3:c.*381del | XM_011530721.3:c.*381dup | XM_011530721.3:c.*380_*381dup | XM_011530721.3:c.*379_*381dup | XM_011530721.3:c.*377_*381dup |
| PPP6R2 transcript variant X1 | XM_011530721.2:c.*372_*381= | XM_011530721.2:c.*377_*381del | XM_011530721.2:c.*378_*381del | XM_011530721.2:c.*379_*381del | XM_011530721.2:c.*380_*381del | XM_011530721.2:c.*381del | XM_011530721.2:c.*381dup | XM_011530721.2:c.*380_*381dup | XM_011530721.2:c.*379_*381dup | XM_011530721.2:c.*377_*381dup |
| PPP6R2 transcript variant X2 | XM_011530720.3:c.*372_*381= | XM_011530720.3:c.*377_*381del | XM_011530720.3:c.*378_*381del | XM_011530720.3:c.*379_*381del | XM_011530720.3:c.*380_*381del | XM_011530720.3:c.*381del | XM_011530720.3:c.*381dup | XM_011530720.3:c.*380_*381dup | XM_011530720.3:c.*379_*381dup | XM_011530720.3:c.*377_*381dup |
| PPP6R2 transcript variant X2 | XM_011530720.2:c.*372_*381= | XM_011530720.2:c.*377_*381del | XM_011530720.2:c.*378_*381del | XM_011530720.2:c.*379_*381del | XM_011530720.2:c.*380_*381del | XM_011530720.2:c.*381del | XM_011530720.2:c.*381dup | XM_011530720.2:c.*380_*381dup | XM_011530720.2:c.*379_*381dup | XM_011530720.2:c.*377_*381dup |
| PPP6R2 transcript variant X4 | XM_011530722.3:c.*372_*381= | XM_011530722.3:c.*377_*381del | XM_011530722.3:c.*378_*381del | XM_011530722.3:c.*379_*381del | XM_011530722.3:c.*380_*381del | XM_011530722.3:c.*381del | XM_011530722.3:c.*381dup | XM_011530722.3:c.*380_*381dup | XM_011530722.3:c.*379_*381dup | XM_011530722.3:c.*377_*381dup |
| PPP6R2 transcript variant X3 | XM_011530722.2:c.*372_*381= | XM_011530722.2:c.*377_*381del | XM_011530722.2:c.*378_*381del | XM_011530722.2:c.*379_*381del | XM_011530722.2:c.*380_*381del | XM_011530722.2:c.*381del | XM_011530722.2:c.*381dup | XM_011530722.2:c.*380_*381dup | XM_011530722.2:c.*379_*381dup | XM_011530722.2:c.*377_*381dup |
| PPP6R2 transcript variant X5 | XM_011530723.3:c.*372_*381= | XM_011530723.3:c.*377_*381del | XM_011530723.3:c.*378_*381del | XM_011530723.3:c.*379_*381del | XM_011530723.3:c.*380_*381del | XM_011530723.3:c.*381del | XM_011530723.3:c.*381dup | XM_011530723.3:c.*380_*381dup | XM_011530723.3:c.*379_*381dup | XM_011530723.3:c.*377_*381dup |
| PPP6R2 transcript variant X4 | XM_011530723.2:c.*372_*381= | XM_011530723.2:c.*377_*381del | XM_011530723.2:c.*378_*381del | XM_011530723.2:c.*379_*381del | XM_011530723.2:c.*380_*381del | XM_011530723.2:c.*381del | XM_011530723.2:c.*381dup | XM_011530723.2:c.*380_*381dup | XM_011530723.2:c.*379_*381dup | XM_011530723.2:c.*377_*381dup |
| PPP6R2 transcript variant X7 | XM_011530724.3:c.*372_*381= | XM_011530724.3:c.*377_*381del | XM_011530724.3:c.*378_*381del | XM_011530724.3:c.*379_*381del | XM_011530724.3:c.*380_*381del | XM_011530724.3:c.*381del | XM_011530724.3:c.*381dup | XM_011530724.3:c.*380_*381dup | XM_011530724.3:c.*379_*381dup | XM_011530724.3:c.*377_*381dup |
| PPP6R2 transcript variant X6 | XM_011530724.2:c.*372_*381= | XM_011530724.2:c.*377_*381del | XM_011530724.2:c.*378_*381del | XM_011530724.2:c.*379_*381del | XM_011530724.2:c.*380_*381del | XM_011530724.2:c.*381del | XM_011530724.2:c.*381dup | XM_011530724.2:c.*380_*381dup | XM_011530724.2:c.*379_*381dup | XM_011530724.2:c.*377_*381dup |
| PPP6R2 transcript variant X36 | XM_011530739.3:c.*372_*381= | XM_011530739.3:c.*377_*381del | XM_011530739.3:c.*378_*381del | XM_011530739.3:c.*379_*381del | XM_011530739.3:c.*380_*381del | XM_011530739.3:c.*381del | XM_011530739.3:c.*381dup | XM_011530739.3:c.*380_*381dup | XM_011530739.3:c.*379_*381dup | XM_011530739.3:c.*377_*381dup |
| PPP6R2 transcript variant X24 | XM_011530739.2:c.*372_*381= | XM_011530739.2:c.*377_*381del | XM_011530739.2:c.*378_*381del | XM_011530739.2:c.*379_*381del | XM_011530739.2:c.*380_*381del | XM_011530739.2:c.*381del | XM_011530739.2:c.*381dup | XM_011530739.2:c.*380_*381dup | XM_011530739.2:c.*379_*381dup | XM_011530739.2:c.*377_*381dup |
| PPP6R2 transcript variant X10 | XM_011530726.3:c.*372_*381= | XM_011530726.3:c.*377_*381del | XM_011530726.3:c.*378_*381del | XM_011530726.3:c.*379_*381del | XM_011530726.3:c.*380_*381del | XM_011530726.3:c.*381del | XM_011530726.3:c.*381dup | XM_011530726.3:c.*380_*381dup | XM_011530726.3:c.*379_*381dup | XM_011530726.3:c.*377_*381dup |
| PPP6R2 transcript variant X7 | XM_011530726.2:c.*372_*381= | XM_011530726.2:c.*377_*381del | XM_011530726.2:c.*378_*381del | XM_011530726.2:c.*379_*381del | XM_011530726.2:c.*380_*381del | XM_011530726.2:c.*381del | XM_011530726.2:c.*381dup | XM_011530726.2:c.*380_*381dup | XM_011530726.2:c.*379_*381dup | XM_011530726.2:c.*377_*381dup |
| PPP6R2 transcript variant X12 | XM_011530727.3:c.*372_*381= | XM_011530727.3:c.*377_*381del | XM_011530727.3:c.*378_*381del | XM_011530727.3:c.*379_*381del | XM_011530727.3:c.*380_*381del | XM_011530727.3:c.*381del | XM_011530727.3:c.*381dup | XM_011530727.3:c.*380_*381dup | XM_011530727.3:c.*379_*381dup | XM_011530727.3:c.*377_*381dup |
| PPP6R2 transcript variant X8 | XM_011530727.2:c.*372_*381= | XM_011530727.2:c.*377_*381del | XM_011530727.2:c.*378_*381del | XM_011530727.2:c.*379_*381del | XM_011530727.2:c.*380_*381del | XM_011530727.2:c.*381del | XM_011530727.2:c.*381dup | XM_011530727.2:c.*380_*381dup | XM_011530727.2:c.*379_*381dup | XM_011530727.2:c.*377_*381dup |
| PPP6R2 transcript variant X14 | XM_011530728.3:c.*372_*381= | XM_011530728.3:c.*377_*381del | XM_011530728.3:c.*378_*381del | XM_011530728.3:c.*379_*381del | XM_011530728.3:c.*380_*381del | XM_011530728.3:c.*381del | XM_011530728.3:c.*381dup | XM_011530728.3:c.*380_*381dup | XM_011530728.3:c.*379_*381dup | XM_011530728.3:c.*377_*381dup |
| PPP6R2 transcript variant X10 | XM_011530728.2:c.*372_*381= | XM_011530728.2:c.*377_*381del | XM_011530728.2:c.*378_*381del | XM_011530728.2:c.*379_*381del | XM_011530728.2:c.*380_*381del | XM_011530728.2:c.*381del | XM_011530728.2:c.*381dup | XM_011530728.2:c.*380_*381dup | XM_011530728.2:c.*379_*381dup | XM_011530728.2:c.*377_*381dup |
| PPP6R2 transcript variant X16 | XM_011530730.3:c.*372_*381= | XM_011530730.3:c.*377_*381del | XM_011530730.3:c.*378_*381del | XM_011530730.3:c.*379_*381del | XM_011530730.3:c.*380_*381del | XM_011530730.3:c.*381del | XM_011530730.3:c.*381dup | XM_011530730.3:c.*380_*381dup | XM_011530730.3:c.*379_*381dup | XM_011530730.3:c.*377_*381dup |
| PPP6R2 transcript variant X11 | XM_011530730.2:c.*372_*381= | XM_011530730.2:c.*377_*381del | XM_011530730.2:c.*378_*381del | XM_011530730.2:c.*379_*381del | XM_011530730.2:c.*380_*381del | XM_011530730.2:c.*381del | XM_011530730.2:c.*381dup | XM_011530730.2:c.*380_*381dup | XM_011530730.2:c.*379_*381dup | XM_011530730.2:c.*377_*381dup |
| PPP6R2 transcript variant X15 | XM_011530729.3:c.*372_*381= | XM_011530729.3:c.*377_*381del | XM_011530729.3:c.*378_*381del | XM_011530729.3:c.*379_*381del | XM_011530729.3:c.*380_*381del | XM_011530729.3:c.*381del | XM_011530729.3:c.*381dup | XM_011530729.3:c.*380_*381dup | XM_011530729.3:c.*379_*381dup | XM_011530729.3:c.*377_*381dup |
| PPP6R2 transcript variant X12 | XM_011530729.2:c.*372_*381= | XM_011530729.2:c.*377_*381del | XM_011530729.2:c.*378_*381del | XM_011530729.2:c.*379_*381del | XM_011530729.2:c.*380_*381del | XM_011530729.2:c.*381del | XM_011530729.2:c.*381dup | XM_011530729.2:c.*380_*381dup | XM_011530729.2:c.*379_*381dup | XM_011530729.2:c.*377_*381dup |
| PPP6R2 transcript variant X45 | XM_011530740.3:c.*372_*381= | XM_011530740.3:c.*377_*381del | XM_011530740.3:c.*378_*381del | XM_011530740.3:c.*379_*381del | XM_011530740.3:c.*380_*381del | XM_011530740.3:c.*381del | XM_011530740.3:c.*381dup | XM_011530740.3:c.*380_*381dup | XM_011530740.3:c.*379_*381dup | XM_011530740.3:c.*377_*381dup |
| PPP6R2 transcript variant X36 | XM_011530740.2:c.*372_*381= | XM_011530740.2:c.*377_*381del | XM_011530740.2:c.*378_*381del | XM_011530740.2:c.*379_*381del | XM_011530740.2:c.*380_*381del | XM_011530740.2:c.*381del | XM_011530740.2:c.*381dup | XM_011530740.2:c.*380_*381dup | XM_011530740.2:c.*379_*381dup | XM_011530740.2:c.*377_*381dup |
| PPP6R2 transcript variant X29 | XM_017029120.2:c.*372_*381= | XM_017029120.2:c.*377_*381del | XM_017029120.2:c.*378_*381del | XM_017029120.2:c.*379_*381del | XM_017029120.2:c.*380_*381del | XM_017029120.2:c.*381del | XM_017029120.2:c.*381dup | XM_017029120.2:c.*380_*381dup | XM_017029120.2:c.*379_*381dup | XM_017029120.2:c.*377_*381dup |
| PPP6R2 transcript variant X19 | XM_017029120.1:c.*372_*381= | XM_017029120.1:c.*377_*381del | XM_017029120.1:c.*378_*381del | XM_017029120.1:c.*379_*381del | XM_017029120.1:c.*380_*381del | XM_017029120.1:c.*381del | XM_017029120.1:c.*381dup | XM_017029120.1:c.*380_*381dup | XM_017029120.1:c.*379_*381dup | XM_017029120.1:c.*377_*381dup |
| PPP6R2 transcript variant X6 | XM_024452306.2:c.*372_*381= | XM_024452306.2:c.*377_*381del | XM_024452306.2:c.*378_*381del | XM_024452306.2:c.*379_*381del | XM_024452306.2:c.*380_*381del | XM_024452306.2:c.*381del | XM_024452306.2:c.*381dup | XM_024452306.2:c.*380_*381dup | XM_024452306.2:c.*379_*381dup | XM_024452306.2:c.*377_*381dup |
| PPP6R2 transcript variant X5 | XM_024452306.1:c.*372_*381= | XM_024452306.1:c.*377_*381del | XM_024452306.1:c.*378_*381del | XM_024452306.1:c.*379_*381del | XM_024452306.1:c.*380_*381del | XM_024452306.1:c.*381del | XM_024452306.1:c.*381dup | XM_024452306.1:c.*380_*381dup | XM_024452306.1:c.*379_*381dup | XM_024452306.1:c.*377_*381dup |
| PPP6R2 transcript variant X13 | XM_017029116.2:c.*372_*381= | XM_017029116.2:c.*377_*381del | XM_017029116.2:c.*378_*381del | XM_017029116.2:c.*379_*381del | XM_017029116.2:c.*380_*381del | XM_017029116.2:c.*381del | XM_017029116.2:c.*381dup | XM_017029116.2:c.*380_*381dup | XM_017029116.2:c.*379_*381dup | XM_017029116.2:c.*377_*381dup |
| PPP6R2 transcript variant X9 | XM_017029116.1:c.*372_*381= | XM_017029116.1:c.*377_*381del | XM_017029116.1:c.*378_*381del | XM_017029116.1:c.*379_*381del | XM_017029116.1:c.*380_*381del | XM_017029116.1:c.*381del | XM_017029116.1:c.*381dup | XM_017029116.1:c.*380_*381dup | XM_017029116.1:c.*379_*381dup | XM_017029116.1:c.*377_*381dup |
| PPP6R2 transcript variant X17 | XM_011530731.2:c.*372_*381= | XM_011530731.2:c.*377_*381del | XM_011530731.2:c.*378_*381del | XM_011530731.2:c.*379_*381del | XM_011530731.2:c.*380_*381del | XM_011530731.2:c.*381del | XM_011530731.2:c.*381dup | XM_011530731.2:c.*380_*381dup | XM_011530731.2:c.*379_*381dup | XM_011530731.2:c.*377_*381dup |
| PPP6R2 transcript variant X47 | XM_017029133.2:c.*372_*381= | XM_017029133.2:c.*377_*381del | XM_017029133.2:c.*378_*381del | XM_017029133.2:c.*379_*381del | XM_017029133.2:c.*380_*381del | XM_017029133.2:c.*381del | XM_017029133.2:c.*381dup | XM_017029133.2:c.*380_*381dup | XM_017029133.2:c.*379_*381dup | XM_017029133.2:c.*377_*381dup |
| PPP6R2 transcript variant X37 | XM_017029133.1:c.*372_*381= | XM_017029133.1:c.*377_*381del | XM_017029133.1:c.*378_*381del | XM_017029133.1:c.*379_*381del | XM_017029133.1:c.*380_*381del | XM_017029133.1:c.*381del | XM_017029133.1:c.*381dup | XM_017029133.1:c.*380_*381dup | XM_017029133.1:c.*379_*381dup | XM_017029133.1:c.*377_*381dup |
| PPP6R2 transcript variant X23 | XM_047441645.1:c.*372_*381= | XM_047441645.1:c.*377_*381del | XM_047441645.1:c.*378_*381del | XM_047441645.1:c.*379_*381del | XM_047441645.1:c.*380_*381del | XM_047441645.1:c.*381del | XM_047441645.1:c.*381dup | XM_047441645.1:c.*380_*381dup | XM_047441645.1:c.*379_*381dup | XM_047441645.1:c.*377_*381dup |
| PPP6R2 transcript variant X42 | XM_047441659.1:c.*372_*381= | XM_047441659.1:c.*377_*381del | XM_047441659.1:c.*378_*381del | XM_047441659.1:c.*379_*381del | XM_047441659.1:c.*380_*381del | XM_047441659.1:c.*381del | XM_047441659.1:c.*381dup | XM_047441659.1:c.*380_*381dup | XM_047441659.1:c.*379_*381dup | XM_047441659.1:c.*377_*381dup |
| PPP6R2 transcript variant X32 | XM_047441653.1:c.*372_*381= | XM_047441653.1:c.*377_*381del | XM_047441653.1:c.*378_*381del | XM_047441653.1:c.*379_*381del | XM_047441653.1:c.*380_*381del | XM_047441653.1:c.*381del | XM_047441653.1:c.*381dup | XM_047441653.1:c.*380_*381dup | XM_047441653.1:c.*379_*381dup | XM_047441653.1:c.*377_*381dup |
| PPP6R2 transcript variant X26 | XM_047441648.1:c.*372_*381= | XM_047441648.1:c.*377_*381del | XM_047441648.1:c.*378_*381del | XM_047441648.1:c.*379_*381del | XM_047441648.1:c.*380_*381del | XM_047441648.1:c.*381del | XM_047441648.1:c.*381dup | XM_047441648.1:c.*380_*381dup | XM_047441648.1:c.*379_*381dup | XM_047441648.1:c.*377_*381dup |
| PPP6R2 transcript variant X24 | XM_047441646.1:c.*372_*381= | XM_047441646.1:c.*377_*381del | XM_047441646.1:c.*378_*381del | XM_047441646.1:c.*379_*381del | XM_047441646.1:c.*380_*381del | XM_047441646.1:c.*381del | XM_047441646.1:c.*381dup | XM_047441646.1:c.*380_*381dup | XM_047441646.1:c.*379_*381dup | XM_047441646.1:c.*377_*381dup |
| PPP6R2 transcript variant X20 | XM_047441642.1:c.*372_*381= | XM_047441642.1:c.*377_*381del | XM_047441642.1:c.*378_*381del | XM_047441642.1:c.*379_*381del | XM_047441642.1:c.*380_*381del | XM_047441642.1:c.*381del | XM_047441642.1:c.*381dup | XM_047441642.1:c.*380_*381dup | XM_047441642.1:c.*379_*381dup | XM_047441642.1:c.*377_*381dup |
| PPP6R2 transcript variant X25 | XM_047441647.1:c.*372_*381= | XM_047441647.1:c.*377_*381del | XM_047441647.1:c.*378_*381del | XM_047441647.1:c.*379_*381del | XM_047441647.1:c.*380_*381del | XM_047441647.1:c.*381del | XM_047441647.1:c.*381dup | XM_047441647.1:c.*380_*381dup | XM_047441647.1:c.*379_*381dup | XM_047441647.1:c.*377_*381dup |
| PPP6R2 transcript variant X30 | XM_047441651.1:c.*372_*381= | XM_047441651.1:c.*377_*381del | XM_047441651.1:c.*378_*381del | XM_047441651.1:c.*379_*381del | XM_047441651.1:c.*380_*381del | XM_047441651.1:c.*381del | XM_047441651.1:c.*381dup | XM_047441651.1:c.*380_*381dup | XM_047441651.1:c.*379_*381dup | XM_047441651.1:c.*377_*381dup |
| PPP6R2 transcript variant X38 | XM_047441655.1:c.*372_*381= | XM_047441655.1:c.*377_*381del | XM_047441655.1:c.*378_*381del | XM_047441655.1:c.*379_*381del | XM_047441655.1:c.*380_*381del | XM_047441655.1:c.*381del | XM_047441655.1:c.*381dup | XM_047441655.1:c.*380_*381dup | XM_047441655.1:c.*379_*381dup | XM_047441655.1:c.*377_*381dup |
| PPP6R2 transcript variant X39 | XM_047441656.1:c.*372_*381= | XM_047441656.1:c.*377_*381del | XM_047441656.1:c.*378_*381del | XM_047441656.1:c.*379_*381del | XM_047441656.1:c.*380_*381del | XM_047441656.1:c.*381del | XM_047441656.1:c.*381dup | XM_047441656.1:c.*380_*381dup | XM_047441656.1:c.*379_*381dup | XM_047441656.1:c.*377_*381dup |
| PPP6R2 transcript variant X41 | XM_047441658.1:c.*372_*381= | XM_047441658.1:c.*377_*381del | XM_047441658.1:c.*378_*381del | XM_047441658.1:c.*379_*381del | XM_047441658.1:c.*380_*381del | XM_047441658.1:c.*381del | XM_047441658.1:c.*381dup | XM_047441658.1:c.*380_*381dup | XM_047441658.1:c.*379_*381dup | XM_047441658.1:c.*377_*381dup |
| PPP6R2 transcript variant X21 | XM_047441643.1:c.*372_*381= | XM_047441643.1:c.*377_*381del | XM_047441643.1:c.*378_*381del | XM_047441643.1:c.*379_*381del | XM_047441643.1:c.*380_*381del | XM_047441643.1:c.*381del | XM_047441643.1:c.*381dup | XM_047441643.1:c.*380_*381dup | XM_047441643.1:c.*379_*381dup | XM_047441643.1:c.*377_*381dup |
| PPP6R2 transcript variant X22 | XM_047441644.1:c.*372_*381= | XM_047441644.1:c.*377_*381del | XM_047441644.1:c.*378_*381del | XM_047441644.1:c.*379_*381del | XM_047441644.1:c.*380_*381del | XM_047441644.1:c.*381del | XM_047441644.1:c.*381dup | XM_047441644.1:c.*380_*381dup | XM_047441644.1:c.*379_*381dup | XM_047441644.1:c.*377_*381dup |
| PPP6R2 transcript variant X28 | XM_047441650.1:c.*372_*381= | XM_047441650.1:c.*377_*381del | XM_047441650.1:c.*378_*381del | XM_047441650.1:c.*379_*381del | XM_047441650.1:c.*380_*381del | XM_047441650.1:c.*381del | XM_047441650.1:c.*381dup | XM_047441650.1:c.*380_*381dup | XM_047441650.1:c.*379_*381dup | XM_047441650.1:c.*377_*381dup |
| PPP6R2 transcript variant X27 | XM_047441649.1:c.*372_*381= | XM_047441649.1:c.*377_*381del | XM_047441649.1:c.*378_*381del | XM_047441649.1:c.*379_*381del | XM_047441649.1:c.*380_*381del | XM_047441649.1:c.*381del | XM_047441649.1:c.*381dup | XM_047441649.1:c.*380_*381dup | XM_047441649.1:c.*379_*381dup | XM_047441649.1:c.*377_*381dup |
| PPP6R2 transcript variant X31 | XM_047441652.1:c.*372_*381= | XM_047441652.1:c.*377_*381del | XM_047441652.1:c.*378_*381del | XM_047441652.1:c.*379_*381del | XM_047441652.1:c.*380_*381del | XM_047441652.1:c.*381del | XM_047441652.1:c.*381dup | XM_047441652.1:c.*380_*381dup | XM_047441652.1:c.*379_*381dup | XM_047441652.1:c.*377_*381dup |
| PPP6R2 transcript variant X33 | XM_047441654.1:c.*372_*381= | XM_047441654.1:c.*377_*381del | XM_047441654.1:c.*378_*381del | XM_047441654.1:c.*379_*381del | XM_047441654.1:c.*380_*381del | XM_047441654.1:c.*381del | XM_047441654.1:c.*381dup | XM_047441654.1:c.*380_*381dup | XM_047441654.1:c.*379_*381dup | XM_047441654.1:c.*377_*381dup |
| PPP6R2 transcript variant X43 | XM_047441660.1:c.*372_*381= | XM_047441660.1:c.*377_*381del | XM_047441660.1:c.*378_*381del | XM_047441660.1:c.*379_*381del | XM_047441660.1:c.*380_*381del | XM_047441660.1:c.*381del | XM_047441660.1:c.*381dup | XM_047441660.1:c.*380_*381dup | XM_047441660.1:c.*379_*381dup | XM_047441660.1:c.*377_*381dup |
| PPP6R2 transcript variant X40 | XM_047441657.1:c.*372_*381= | XM_047441657.1:c.*377_*381del | XM_047441657.1:c.*378_*381del | XM_047441657.1:c.*379_*381del | XM_047441657.1:c.*380_*381del | XM_047441657.1:c.*381del | XM_047441657.1:c.*381dup | XM_047441657.1:c.*380_*381dup | XM_047441657.1:c.*379_*381dup | XM_047441657.1:c.*377_*381dup |
| PPP6R2 transcript variant X44 | XM_047441661.1:c.*372_*381= | XM_047441661.1:c.*377_*381del | XM_047441661.1:c.*378_*381del | XM_047441661.1:c.*379_*381del | XM_047441661.1:c.*380_*381del | XM_047441661.1:c.*381del | XM_047441661.1:c.*381dup | XM_047441661.1:c.*380_*381dup | XM_047441661.1:c.*379_*381dup | XM_047441661.1:c.*377_*381dup |
| PPP6R2 transcript variant X1 | XM_047441638.1:c.*372_*381= | XM_047441638.1:c.*377_*381del | XM_047441638.1:c.*378_*381del | XM_047441638.1:c.*379_*381del | XM_047441638.1:c.*380_*381del | XM_047441638.1:c.*381del | XM_047441638.1:c.*381dup | XM_047441638.1:c.*380_*381dup | XM_047441638.1:c.*379_*381dup | XM_047441638.1:c.*377_*381dup |
| PPP6R2 transcript variant X8 | XM_047441639.1:c.*372_*381= | XM_047441639.1:c.*377_*381del | XM_047441639.1:c.*378_*381del | XM_047441639.1:c.*379_*381del | XM_047441639.1:c.*380_*381del | XM_047441639.1:c.*381del | XM_047441639.1:c.*381dup | XM_047441639.1:c.*380_*381dup | XM_047441639.1:c.*379_*381dup | XM_047441639.1:c.*377_*381dup |
| PPP6R2 transcript variant X11 | XM_047441641.1:c.*372_*381= | XM_047441641.1:c.*377_*381del | XM_047441641.1:c.*378_*381del | XM_047441641.1:c.*379_*381del | XM_047441641.1:c.*380_*381del | XM_047441641.1:c.*381del | XM_047441641.1:c.*381dup | XM_047441641.1:c.*380_*381dup | XM_047441641.1:c.*379_*381dup | XM_047441641.1:c.*377_*381dup |
| PPP6R2 transcript variant X46 | XM_047441662.1:c.*372_*381= | XM_047441662.1:c.*377_*381del | XM_047441662.1:c.*378_*381del | XM_047441662.1:c.*379_*381del | XM_047441662.1:c.*380_*381del | XM_047441662.1:c.*381del | XM_047441662.1:c.*381dup | XM_047441662.1:c.*380_*381dup | XM_047441662.1:c.*379_*381dup | XM_047441662.1:c.*377_*381dup |
| PPP6R2 transcript variant X48 | XM_047441663.1:c.*372_*381= | XM_047441663.1:c.*377_*381del | XM_047441663.1:c.*378_*381del | XM_047441663.1:c.*379_*381del | XM_047441663.1:c.*380_*381del | XM_047441663.1:c.*381del | XM_047441663.1:c.*381dup | XM_047441663.1:c.*380_*381dup | XM_047441663.1:c.*379_*381dup | XM_047441663.1:c.*377_*381dup |
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#.
54 SubSNP,
20 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | ABI | ss41531389 | Mar 13, 2006 (126) |
| 2 | BUSHMAN | ss193653161 | Jul 04, 2010 (132) |
| 3 | 1000GENOMES | ss328333406 | May 09, 2011 (137) |
| 4 | GMI | ss478828858 | May 04, 2012 (137) |
| 5 | LUNTER | ss553158621 | Apr 25, 2013 (138) |
| 6 | LUNTER | ss553708472 | Apr 25, 2013 (138) |
| 7 | SSMP | ss664533797 | Apr 01, 2015 (144) |
| 8 | 1000GENOMES | ss1379172129 | Aug 21, 2014 (142) |
| 9 | EVA_GENOME_DK | ss1575864261 | Apr 01, 2015 (144) |
| 10 | EVA_UK10K_ALSPAC | ss1709633840 | Apr 01, 2015 (144) |
| 11 | EVA_UK10K_TWINSUK | ss1709633851 | Apr 01, 2015 (144) |
| 12 | EVA_UK10K_TWINSUK | ss1710849927 | Apr 01, 2015 (144) |
| 13 | EVA_UK10K_ALSPAC | ss1710849930 | Apr 01, 2015 (144) |
| 14 | HAMMER_LAB | ss1809897850 | Sep 08, 2015 (146) |
| 15 | SYSTEMSBIOZJU | ss2629645067 | Nov 08, 2017 (151) |
| 16 | SWEGEN | ss3019498231 | Nov 08, 2017 (151) |
| 17 | MCHAISSO | ss3064032555 | Nov 08, 2017 (151) |
| 18 | MCHAISSO | ss3064892405 | Nov 08, 2017 (151) |
| 19 | MCHAISSO | ss3065862119 | Nov 08, 2017 (151) |
| 20 | MCHAISSO | ss3065862120 | Nov 08, 2017 (151) |
| 21 | BIOINF_KMB_FNS_UNIBA | ss3645690792 | Oct 12, 2018 (152) |
| 22 | EVA_DECODE | ss3708438724 | Jul 13, 2019 (153) |
| 23 | EVA_DECODE | ss3708438725 | Jul 13, 2019 (153) |
| 24 | EVA_DECODE | ss3708438726 | Jul 13, 2019 (153) |
| 25 | EVA_DECODE | ss3708438727 | Jul 13, 2019 (153) |
| 26 | ACPOP | ss3744038064 | Jul 13, 2019 (153) |
| 27 | PACBIO | ss3788858404 | Jul 13, 2019 (153) |
| 28 | PACBIO | ss3793719812 | Jul 13, 2019 (153) |
| 29 | PACBIO | ss3798606327 | Jul 13, 2019 (153) |
| 30 | KHV_HUMAN_GENOMES | ss3822688402 | Jul 13, 2019 (153) |
| 31 | EVA | ss3836053222 | Apr 27, 2020 (154) |
| 32 | EVA | ss3841654808 | Apr 27, 2020 (154) |
| 33 | KOGIC | ss3983894037 | Apr 27, 2020 (154) |
| 34 | FSA-LAB | ss3984240084 | Apr 27, 2021 (155) |
| 35 | GNOMAD | ss4366524110 | Apr 27, 2021 (155) |
| 36 | GNOMAD | ss4366524111 | Apr 27, 2021 (155) |
| 37 | GNOMAD | ss4366524112 | Apr 27, 2021 (155) |
| 38 | GNOMAD | ss4366524113 | Apr 27, 2021 (155) |
| 39 | GNOMAD | ss4366524114 | Apr 27, 2021 (155) |
| 40 | GNOMAD | ss4366524115 | Apr 27, 2021 (155) |
| 41 | GNOMAD | ss4366524116 | Apr 27, 2021 (155) |
| 42 | TOMMO_GENOMICS | ss5233184013 | Apr 27, 2021 (155) |
| 43 | TOMMO_GENOMICS | ss5233184014 | Apr 27, 2021 (155) |
| 44 | 1000G_HIGH_COVERAGE | ss5311523216 | Oct 16, 2022 (156) |
| 45 | 1000G_HIGH_COVERAGE | ss5311523217 | Oct 16, 2022 (156) |
| 46 | HUGCELL_USP | ss5503321077 | Oct 16, 2022 (156) |
| 47 | TOMMO_GENOMICS | ss5794487108 | Oct 16, 2022 (156) |
| 48 | TOMMO_GENOMICS | ss5794487109 | Oct 16, 2022 (156) |
| 49 | YY_MCH | ss5818815968 | Oct 16, 2022 (156) |
| 50 | EVA | ss5822238707 | Oct 16, 2022 (156) |
| 51 | EVA | ss5822238708 | Oct 16, 2022 (156) |
| 52 | EVA | ss5853443573 | Oct 16, 2022 (156) |
| 53 | EVA | ss5882293555 | Oct 16, 2022 (156) |
| 54 | EVA | ss5981146172 | Oct 16, 2022 (156) |
| 55 | 1000Genomes | NC_000022.10 - 50883048 | Oct 12, 2018 (152) |
| 56 |
The Avon Longitudinal Study of Parents and Children
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 57 |
The Avon Longitudinal Study of Parents and Children
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 58 | The Danish reference pan genome | NC_000022.10 - 50883048 | Apr 27, 2020 (154) |
| 59 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 60 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 61 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 62 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 63 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 64 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 65 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 66 | Korean Genome Project | NC_000022.11 - 50444619 | Apr 27, 2020 (154) |
| 67 | Northern Sweden | NC_000022.10 - 50883048 | Jul 13, 2019 (153) |
| 68 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 69 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 70 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 16, 2022 (156) |
| 71 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 16, 2022 (156) |
| 72 |
UK 10K study - Twins
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 73 |
UK 10K study - Twins
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 74 | ALFA | NC_000022.11 - 50444619 | 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).
| Associated ID | History Updated (Build) |
|---|---|
| rs147156007 | May 04, 2012 (137) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss4366524116 | NC_000022.11:50444618:TTTTT: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTT |
(self) |
| ss4366524115 | NC_000022.11:50444618:TTTT: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTT |
(self) |
| ss4366524114 | NC_000022.11:50444618:TTT: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTT |
(self) |
| ss3984240084 | NC_000022.10:50883047:TT: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTT |
(self) |
| ss328333406, ss478828858, ss553158621, ss553708472 | NC_000022.9:49229913:T: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT |
(self) |
| 81201619, 802140, 17322929, ss664533797, ss1379172129, ss1575864261, ss1709633840, ss1709633851, ss1809897850, ss2629645067, ss3019498231, ss3744038064, ss3788858404, ss3793719812, ss3798606327, ss3836053222, ss3841654808, ss5233184013, ss5822238707, ss5981146172 | NC_000022.10:50883047:T: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT |
(self) |
| 40272038, ss3064032555, ss3064892405, ss3065862119, ss3065862120, ss3645690792, ss3708438724, ss3822688402, ss3983894037, ss4366524113, ss5311523216, ss5503321077, ss5794487108, ss5818815968, ss5853443573, ss5882293555 | NC_000022.11:50444618:T: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT |
(self) |
| ss41531389 | NT_011526.7:468270:T: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT |
(self) |
| ss193653161 | NT_011526.8:469253:T: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT |
(self) |
| ss5233184014 | NC_000022.10:50883047::T |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTT |
(self) |
| ss4366524110, ss5311523217, ss5794487109 | NC_000022.11:50444618::T |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTT |
(self) |
| ss3708438725 | NC_000022.11:50444619::T |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTT |
(self) |
| ss5822238708 | NC_000022.10:50883047::TT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTT |
(self) |
| ss1710849927, ss1710849930 | NC_000022.10:50883048::TT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTT |
(self) |
| ss4366524111 | NC_000022.11:50444618::TT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTT |
(self) |
| ss3708438726 | NC_000022.11:50444619::TT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTT |
(self) |
| ss3708438727 | NC_000022.11:50444619::TTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTTT |
(self) |
| ss4366524112 | NC_000022.11:50444618::TTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTTTTT |
(self) |
| 5725752538 |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTTTTT |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTTTTT |
(self) |
Removed from this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Destination RSIDs |
|---|---|---|---|
| ss3380154618 | NC_000022.11:50444618:TT: |
NC_000022.11:50444618:TTTTTTTTTT:T…
NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTT |
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 rs34079114
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.
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.