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dbSNP Short Genetic Variations

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.

rs1057518046

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr8:143818206-143818211 (GRCh38.p12) 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
dupC
Variation Type
Indel Insertion and Deletion
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
PUF60 : Frameshift
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr 8 NC_000008.11:g.143818211dup
GRCh37.p13 chr 8 fix patch HG104_HG975_PATCH NW_003315923.1:g.156856dup
SCRIB RefSeqGene NG_030583.1:g.2174dup
PUF60 RefSeqGene NG_033879.1:g.16181dup
GRCh38.p12 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.295258dup
GRCh37.p13 chr 8 NC_000008.10:g.144900381dup
Gene: PUF60, poly(U) binding splicing factor 60 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PUF60 transcript variant 1 NM_078480.2:c.590dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform a NP_510965.1:p.Arg198fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant 2 NM_014281.4:c.539dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform b NP_055096.2:p.Arg181fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant 3 NM_001136033.2:c.461dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform c NP_001129505.1:p.Arg155fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant 4 NM_001271096.1:c.536dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform d NP_001258025.1:p.Arg180fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant 5 NM_001271097.1:c.452dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform e NP_001258026.1:p.Arg152fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant 6 NM_001271098.1:c.587dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform f NP_001258027.1:p.Arg197fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant 7 NM_001271099.1:c.503dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform g NP_001258028.1:p.Arg169fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant 8 NM_001271100.1:c.410dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform h NP_001258029.1:p.Arg138fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X6 XM_017013234.1:c.701dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X5 XP_016868723.1:p.Arg235fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X7 XM_017013235.1:c.665dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X6 XP_016868724.1:p.Arg223fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X10 XM_017013236.1:c.650dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X9 XP_016868725.1:p.Arg218fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X11 XM_011516930.2:c.650dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X9 XP_011515232.1:p.Arg218fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X12 XM_017013237.1:c.701dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X5 XP_016868726.1:p.Arg235fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X13 XM_017013238.1:c.701dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X5 XP_016868727.1:p.Arg235fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X17 XM_017013239.1:c.461dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X13 XP_016868728.1:p.Arg155fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X18 XM_017013240.1:c.410dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X14 XP_016868729.1:p.Arg138fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X1 XM_024447098.1:c.701dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X1 XP_024302866.1:p.Arg235fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X2 XM_024447099.1:c.701dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X1 XP_024302867.1:p.Arg235fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X3 XM_024447100.1:c.650dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X2 XP_024302868.1:p.Arg218fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X4 XM_024447101.1:c.590dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X3 XP_024302869.1:p.Arg198fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X5 XM_024447102.1:c.587dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X4 XP_024302870.1:p.Arg197fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X8 XM_024447103.1:c.539dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X7 XP_024302871.1:p.Arg181fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X9 XM_024447104.1:c.536dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X8 XP_024302872.1:p.Arg180fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X14 XM_024447105.1:c.503dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X10 XP_024302873.1:p.Arg169fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X15 XM_024447106.1:c.461dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X11 XP_024302874.1:p.Arg155fs G (Gly) > G (Gly) Frameshift
PUF60 transcript variant X16 XM_024447107.1:c.452dup G [GGC] > G [GGGC] Coding Sequence Variant
poly(U)-binding-splicing factor PUF60 isoform X12 XP_024302875.1:p.Arg152fs G (Gly) > G (Gly) Frameshift
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: dupC (allele ID: 359835 )
ClinVar Accession Disease Names Clinical Significance
RCV000413181.1 not provided Likely-Pathogenic
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").

None
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 (C)6= dupC Note
GRCh38.p12 chr 8 NC_000008.11:g.14381820...

NC_000008.11:g.143818206_143818211CCCCCC=

NC_000008.11:g.14381821...

NC_000008.11:g.143818211dup

GRCh37.p13 chr 8 fix patch HG104_HG975_PATCH NW_003315923.1:g.156851...

NW_003315923.1:g.156851_156856CCCCCC=

NW_003315923.1:g.156856dup
SCRIB RefSeqGene NG_030583.1:g.2169_2174...

NG_030583.1:g.2169_2174GGGGGG=

NG_030583.1:g.2174dup
PUF60 RefSeqGene NG_033879.1:g.16176_161...

NG_033879.1:g.16176_16181GGGGGG=

NG_033879.1:g.16181dup
PUF60 transcript variant 2 NM_014281.4:c.534_539GG...

NM_014281.4:c.534_539GGGGGG=

NM_014281.4:c.539dup
PUF60 transcript variant 3 NM_001136033.2:c.456_46...

NM_001136033.2:c.456_461GGGGGG=

NM_001136033.2:c.461dup
PUF60 transcript variant 1 NM_078480.2:c.585_590GG...

NM_078480.2:c.585_590GGGGGG=

NM_078480.2:c.590dup
PUF60 transcript variant 6 NM_001271098.1:c.582_58...

NM_001271098.1:c.582_587GGGGGG=

NM_001271098.1:c.587dup
PUF60 transcript variant 8 NM_001271100.1:c.405_41...

NM_001271100.1:c.405_410GGGGGG=

NM_001271100.1:c.410dup
PUF60 transcript variant 4 NM_001271096.1:c.531_53...

NM_001271096.1:c.531_536GGGGGG=

NM_001271096.1:c.536dup
PUF60 transcript variant 7 NM_001271099.1:c.498_50...

NM_001271099.1:c.498_503GGGGGG=

NM_001271099.1:c.503dup
PUF60 transcript variant 5 NM_001271097.1:c.447_45...

NM_001271097.1:c.447_452GGGGGG=

NM_001271097.1:c.452dup
GRCh38.p12 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.295253_29...

NT_187571.1:g.295253_295258CCCCCC=

NT_187571.1:g.295258dup
GRCh37.p13 chr 8 NC_000008.10:g.14490037...

NC_000008.10:g.144900376_144900381CCCCCC=

NC_000008.10:g.14490038...

NC_000008.10:g.144900381dup

PUF60 transcript variant X11 XM_011516930.2:c.645_65...

XM_011516930.2:c.645_650GGGGGG=

XM_011516930.2:c.650dup
PUF60 transcript variant X1 XM_024447098.1:c.696_70...

XM_024447098.1:c.696_701GGGGGG=

XM_024447098.1:c.701dup
PUF60 transcript variant X5 XM_024447102.1:c.582_58...

XM_024447102.1:c.582_587GGGGGG=

XM_024447102.1:c.587dup
PUF60 transcript variant X14 XM_024447105.1:c.498_50...

XM_024447105.1:c.498_503GGGGGG=

XM_024447105.1:c.503dup
PUF60 transcript variant X16 XM_024447107.1:c.447_45...

XM_024447107.1:c.447_452GGGGGG=

XM_024447107.1:c.452dup
PUF60 transcript variant X2 XM_024447099.1:c.696_70...

XM_024447099.1:c.696_701GGGGGG=

XM_024447099.1:c.701dup
PUF60 transcript variant X12 XM_017013237.1:c.696_70...

XM_017013237.1:c.696_701GGGGGG=

XM_017013237.1:c.701dup
PUF60 transcript variant X15 XM_024447106.1:c.456_46...

XM_024447106.1:c.456_461GGGGGG=

XM_024447106.1:c.461dup
PUF60 transcript variant X17 XM_017013239.1:c.456_46...

XM_017013239.1:c.456_461GGGGGG=

XM_017013239.1:c.461dup
PUF60 transcript variant X18 XM_017013240.1:c.405_41...

XM_017013240.1:c.405_410GGGGGG=

XM_017013240.1:c.410dup
PUF60 transcript variant X9 XM_024447104.1:c.531_53...

XM_024447104.1:c.531_536GGGGGG=

XM_024447104.1:c.536dup
PUF60 transcript variant X13 XM_017013238.1:c.696_70...

XM_017013238.1:c.696_701GGGGGG=

XM_017013238.1:c.701dup
PUF60 transcript variant X10 XM_017013236.1:c.645_65...

XM_017013236.1:c.645_650GGGGGG=

XM_017013236.1:c.650dup
PUF60 transcript variant X3 XM_024447100.1:c.645_65...

XM_024447100.1:c.645_650GGGGGG=

XM_024447100.1:c.650dup
PUF60 transcript variant X6 XM_017013234.1:c.696_70...

XM_017013234.1:c.696_701GGGGGG=

XM_017013234.1:c.701dup
PUF60 transcript variant X4 XM_024447101.1:c.585_59...

XM_024447101.1:c.585_590GGGGGG=

XM_024447101.1:c.590dup
PUF60 transcript variant X8 XM_024447103.1:c.534_53...

XM_024447103.1:c.534_539GGGGGG=

XM_024447103.1:c.539dup
PUF60 transcript variant X7 XM_017013235.1:c.660_66...

XM_017013235.1:c.660_665GGGGGG=

XM_017013235.1:c.665dup
poly(U)-binding-splicing factor PUF60 isoform b NP_055096.2:p.Leu178_Gl...

NP_055096.2:p.Leu178_Gly180=

NP_055096.2:p.Arg181fs
poly(U)-binding-splicing factor PUF60 isoform c NP_001129505.1:p.Leu152...

NP_001129505.1:p.Leu152_Gly154=

NP_001129505.1:p.Arg155fs
poly(U)-binding-splicing factor PUF60 isoform a NP_510965.1:p.Leu195_Gl...

NP_510965.1:p.Leu195_Gly197=

NP_510965.1:p.Arg198fs
poly(U)-binding-splicing factor PUF60 isoform f NP_001258027.1:p.Leu194...

NP_001258027.1:p.Leu194_Gly196=

NP_001258027.1:p.Arg197fs
poly(U)-binding-splicing factor PUF60 isoform h NP_001258029.1:p.Leu135...

NP_001258029.1:p.Leu135_Gly137=

NP_001258029.1:p.Arg138fs
poly(U)-binding-splicing factor PUF60 isoform d NP_001258025.1:p.Leu177...

NP_001258025.1:p.Leu177_Gly179=

NP_001258025.1:p.Arg180fs
poly(U)-binding-splicing factor PUF60 isoform g NP_001258028.1:p.Leu166...

NP_001258028.1:p.Leu166_Gly168=

NP_001258028.1:p.Arg169fs
poly(U)-binding-splicing factor PUF60 isoform e NP_001258026.1:p.Leu149...

NP_001258026.1:p.Leu149_Gly151=

NP_001258026.1:p.Arg152fs
poly(U)-binding-splicing factor PUF60 isoform X9 XP_011515232.1:p.Leu215...

XP_011515232.1:p.Leu215_Gly217=

XP_011515232.1:p.Arg218fs
poly(U)-binding-splicing factor PUF60 isoform X1 XP_024302866.1:p.Leu232...

XP_024302866.1:p.Leu232_Gly234=

XP_024302866.1:p.Arg235fs
poly(U)-binding-splicing factor PUF60 isoform X4 XP_024302870.1:p.Leu194...

XP_024302870.1:p.Leu194_Gly196=

XP_024302870.1:p.Arg197fs
poly(U)-binding-splicing factor PUF60 isoform X10 XP_024302873.1:p.Leu166...

XP_024302873.1:p.Leu166_Gly168=

XP_024302873.1:p.Arg169fs
poly(U)-binding-splicing factor PUF60 isoform X12 XP_024302875.1:p.Leu149...

XP_024302875.1:p.Leu149_Gly151=

XP_024302875.1:p.Arg152fs
poly(U)-binding-splicing factor PUF60 isoform X1 XP_024302867.1:p.Leu232...

XP_024302867.1:p.Leu232_Gly234=

XP_024302867.1:p.Arg235fs
poly(U)-binding-splicing factor PUF60 isoform X5 XP_016868726.1:p.Leu232...

XP_016868726.1:p.Leu232_Gly234=

XP_016868726.1:p.Arg235fs
poly(U)-binding-splicing factor PUF60 isoform X11 XP_024302874.1:p.Leu152...

XP_024302874.1:p.Leu152_Gly154=

XP_024302874.1:p.Arg155fs
poly(U)-binding-splicing factor PUF60 isoform X13 XP_016868728.1:p.Leu152...

XP_016868728.1:p.Leu152_Gly154=

XP_016868728.1:p.Arg155fs
poly(U)-binding-splicing factor PUF60 isoform X14 XP_016868729.1:p.Leu135...

XP_016868729.1:p.Leu135_Gly137=

XP_016868729.1:p.Arg138fs
poly(U)-binding-splicing factor PUF60 isoform X8 XP_024302872.1:p.Leu177...

XP_024302872.1:p.Leu177_Gly179=

XP_024302872.1:p.Arg180fs
poly(U)-binding-splicing factor PUF60 isoform X5 XP_016868727.1:p.Leu232...

XP_016868727.1:p.Leu232_Gly234=

XP_016868727.1:p.Arg235fs
poly(U)-binding-splicing factor PUF60 isoform X9 XP_016868725.1:p.Leu215...

XP_016868725.1:p.Leu215_Gly217=

XP_016868725.1:p.Arg218fs
poly(U)-binding-splicing factor PUF60 isoform X2 XP_024302868.1:p.Leu215...

XP_024302868.1:p.Leu215_Gly217=

XP_024302868.1:p.Arg218fs
poly(U)-binding-splicing factor PUF60 isoform X5 XP_016868723.1:p.Leu232...

XP_016868723.1:p.Leu232_Gly234=

XP_016868723.1:p.Arg235fs
poly(U)-binding-splicing factor PUF60 isoform X3 XP_024302869.1:p.Leu195...

XP_024302869.1:p.Leu195_Gly197=

XP_024302869.1:p.Arg198fs
poly(U)-binding-splicing factor PUF60 isoform X7 XP_024302871.1:p.Leu178...

XP_024302871.1:p.Leu178_Gly180=

XP_024302871.1:p.Arg181fs
poly(U)-binding-splicing factor PUF60 isoform X6 XP_016868724.1:p.Leu220...

XP_016868724.1:p.Leu220_Gly222=

XP_016868724.1:p.Arg223fs
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137342281 Jan 12, 2017 (149)
2 ClinVar RCV000413181.1 Oct 12, 2018 (152)
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
ss2137342281 NC_000008.11:143818205:insC NC_000008.11:143818205:dupC (self)
RCV000413181.1 NC_000008.11:143818205:dupC NC_000008.11:143818205:dupC
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 rs1057518046

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.post58+e54ea20