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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.

rs1479541362

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:36353268-36353269 (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
insTTTC
Variation Type
Insertion
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RNF38 : Frameshift Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

None
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 9 NC_000009.12:g.36353268_36353269insTTTC
GRCh37.p13 chr 9 NC_000009.11:g.36353265_36353266insTTTC
Gene: RNF38, ring finger protein 38 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RNF38 transcript variant 1 NM_022781.5:c.972_973insG…

NM_022781.5:c.972_973insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform 1 NP_073618.3:p.Thr325fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant 3 NM_194329.3:c.822_823insG…

NM_194329.3:c.822_823insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform 3 NP_919310.1:p.Thr275fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant 2 NM_194328.3:c.723_724insG…

NM_194328.3:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform 2 NP_919309.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant 6 NM_194332.3:c.723_724insG…

NM_194332.3:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform 2 NP_919313.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant 5 NM_194330.3:c.723_724insG…

NM_194330.3:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform 2 NP_919311.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X1 XM_047422794.1:c.1284_128…

XM_047422794.1:c.1284_1285insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X1 XP_047278750.1:p.Thr429fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X2 XM_047422795.1:c.1182_118…

XM_047422795.1:c.1182_1183insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X2 XP_047278751.1:p.Thr395fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X3 XM_047422796.1:c.1134_113…

XM_047422796.1:c.1134_1135insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X3 XP_047278752.1:p.Thr379fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X4 XM_047422797.1:c.870_871i…

XM_047422797.1:c.870_871insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X4 XP_047278753.1:p.Thr291fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X5 XM_017014294.2:c.759_760i…

XM_017014294.2:c.759_760insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X5 XP_016869783.1:p.Thr254fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X6 XM_011517713.3:c.723_724i…

XM_011517713.3:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_011516015.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X7 XM_005251367.4:c.723_724i…

XM_005251367.4:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_005251424.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X8 XM_005251366.4:c.723_724i…

XM_005251366.4:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_005251423.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X9 XM_006716721.4:c.723_724i…

XM_006716721.4:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_006716784.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X10 XM_047422798.1:c.723_724i…

XM_047422798.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278754.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X11 XM_047422799.1:c.723_724i…

XM_047422799.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278755.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X12 XM_047422800.1:c.723_724i…

XM_047422800.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278756.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X13 XM_047422801.1:c.723_724i…

XM_047422801.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278757.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X14 XM_047422802.1:c.723_724i…

XM_047422802.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278758.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X15 XM_047422803.1:c.723_724i…

XM_047422803.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278759.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X16 XM_047422804.1:c.723_724i…

XM_047422804.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278760.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X17 XM_047422805.1:c.723_724i…

XM_047422805.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278761.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X18 XM_017014297.2:c.633_634i…

XM_017014297.2:c.633_634insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X7 XP_016869786.1:p.Thr212fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X19 XM_017014296.2:c.633_634i…

XM_017014296.2:c.633_634insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X7 XP_016869785.1:p.Thr212fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X20 XM_011517712.3:c.723_724i…

XM_011517712.3:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_011516014.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
RNF38 transcript variant X21 XM_047422806.1:c.723_724i…

XM_047422806.1:c.723_724insGAAA

T [ACT] > E [GAAAACT] Coding Sequence Variant
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278762.1:p.Thr242fs T (Thr) > E (Glu) Frameshift Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement = insTTTC
GRCh38.p14 chr 9 NC_000009.12:g.36353268_36353269= NC_000009.12:g.36353268_36353269insTTTC
GRCh37.p13 chr 9 NC_000009.11:g.36353265_36353266= NC_000009.11:g.36353265_36353266insTTTC
RNF38 transcript variant 1 NM_022781.5:c.972_973= NM_022781.5:c.972_973insGAAA
RNF38 transcript variant 1 NM_022781.4:c.972_973= NM_022781.4:c.972_973insGAAA
RNF38 transcript variant X8 XM_005251366.4:c.723_724= XM_005251366.4:c.723_724insGAAA
RNF38 transcript variant X3 XM_005251366.3:c.723_724= XM_005251366.3:c.723_724insGAAA
RNF38 transcript variant X2 XM_005251366.2:c.723_724= XM_005251366.2:c.723_724insGAAA
RNF38 transcript variant X3 XM_005251366.1:c.723_724= XM_005251366.1:c.723_724insGAAA
RNF38 transcript variant X7 XM_005251367.4:c.723_724= XM_005251367.4:c.723_724insGAAA
RNF38 transcript variant X6 XM_005251367.3:c.723_724= XM_005251367.3:c.723_724insGAAA
RNF38 transcript variant X5 XM_005251367.2:c.723_724= XM_005251367.2:c.723_724insGAAA
RNF38 transcript variant X4 XM_005251367.1:c.723_724= XM_005251367.1:c.723_724insGAAA
RNF38 transcript variant X9 XM_006716721.4:c.723_724= XM_006716721.4:c.723_724insGAAA
RNF38 transcript variant X5 XM_006716721.3:c.723_724= XM_006716721.3:c.723_724insGAAA
RNF38 transcript variant X6 XM_006716721.2:c.723_724= XM_006716721.2:c.723_724insGAAA
RNF38 transcript variant X6 XM_006716721.1:c.723_724= XM_006716721.1:c.723_724insGAAA
RNF38 transcript variant 2 NM_194328.3:c.723_724= NM_194328.3:c.723_724insGAAA
RNF38 transcript variant 2 NM_194328.2:c.723_724= NM_194328.2:c.723_724insGAAA
RNF38 transcript variant 6 NM_194332.3:c.723_724= NM_194332.3:c.723_724insGAAA
RNF38 transcript variant 6 NM_194332.2:c.723_724= NM_194332.2:c.723_724insGAAA
RNF38 transcript variant X20 XM_011517712.3:c.723_724= XM_011517712.3:c.723_724insGAAA
RNF38 transcript variant X2 XM_011517712.2:c.723_724= XM_011517712.2:c.723_724insGAAA
RNF38 transcript variant X1 XM_011517712.1:c.723_724= XM_011517712.1:c.723_724insGAAA
RNF38 transcript variant X6 XM_011517713.3:c.723_724= XM_011517713.3:c.723_724insGAAA
RNF38 transcript variant X4 XM_011517713.2:c.723_724= XM_011517713.2:c.723_724insGAAA
RNF38 transcript variant X3 XM_011517713.1:c.723_724= XM_011517713.1:c.723_724insGAAA
RNF38 transcript variant 5 NM_194330.3:c.723_724= NM_194330.3:c.723_724insGAAA
RNF38 transcript variant 5 NM_194330.2:c.723_724= NM_194330.2:c.723_724insGAAA
RNF38 transcript variant 3 NM_194329.3:c.822_823= NM_194329.3:c.822_823insGAAA
RNF38 transcript variant 3 NM_194329.2:c.822_823= NM_194329.2:c.822_823insGAAA
RNF38 transcript variant X5 XM_017014294.2:c.759_760= XM_017014294.2:c.759_760insGAAA
RNF38 transcript variant X1 XM_017014294.1:c.759_760= XM_017014294.1:c.759_760insGAAA
RNF38 transcript variant X18 XM_017014297.2:c.633_634= XM_017014297.2:c.633_634insGAAA
RNF38 transcript variant X8 XM_017014297.1:c.633_634= XM_017014297.1:c.633_634insGAAA
RNF38 transcript variant X19 XM_017014296.2:c.633_634= XM_017014296.2:c.633_634insGAAA
RNF38 transcript variant X7 XM_017014296.1:c.633_634= XM_017014296.1:c.633_634insGAAA
RNF38 transcript variant X1 XM_047422794.1:c.1284_1285= XM_047422794.1:c.1284_1285insGAAA
RNF38 transcript variant X2 XM_047422795.1:c.1182_1183= XM_047422795.1:c.1182_1183insGAAA
RNF38 transcript variant X3 XM_047422796.1:c.1134_1135= XM_047422796.1:c.1134_1135insGAAA
RNF38 transcript variant X11 XM_047422799.1:c.723_724= XM_047422799.1:c.723_724insGAAA
RNF38 transcript variant X12 XM_047422800.1:c.723_724= XM_047422800.1:c.723_724insGAAA
RNF38 transcript variant X13 XM_047422801.1:c.723_724= XM_047422801.1:c.723_724insGAAA
RNF38 transcript variant X16 XM_047422804.1:c.723_724= XM_047422804.1:c.723_724insGAAA
RNF38 transcript variant X4 XM_047422797.1:c.870_871= XM_047422797.1:c.870_871insGAAA
RNF38 transcript variant X10 XM_047422798.1:c.723_724= XM_047422798.1:c.723_724insGAAA
RNF38 transcript variant X21 XM_047422806.1:c.723_724= XM_047422806.1:c.723_724insGAAA
RNF38 transcript variant X17 XM_047422805.1:c.723_724= XM_047422805.1:c.723_724insGAAA
RNF38 transcript variant X15 XM_047422803.1:c.723_724= XM_047422803.1:c.723_724insGAAA
RNF38 transcript variant X14 XM_047422802.1:c.723_724= XM_047422802.1:c.723_724insGAAA
RNF38 transcript variant 4 NM_194331.1:c.669_670= NM_194331.1:c.669_670insGAAA
E3 ubiquitin-protein ligase RNF38 isoform 1 NP_073618.3:p.Thr325_Tyr326= NP_073618.3:p.Thr325fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_005251423.1:p.Thr242_Tyr243= XP_005251423.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_005251424.1:p.Thr242_Tyr243= XP_005251424.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_006716784.1:p.Thr242_Tyr243= XP_006716784.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform 2 NP_919309.1:p.Thr242_Tyr243= NP_919309.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform 2 NP_919313.1:p.Thr242_Tyr243= NP_919313.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_011516014.1:p.Thr242_Tyr243= XP_011516014.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_011516015.1:p.Thr242_Tyr243= XP_011516015.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform 2 NP_919311.1:p.Thr242_Tyr243= NP_919311.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform 3 NP_919310.1:p.Thr275_Tyr276= NP_919310.1:p.Thr275fs
E3 ubiquitin-protein ligase RNF38 isoform X5 XP_016869783.1:p.Thr254_Tyr255= XP_016869783.1:p.Thr254fs
E3 ubiquitin-protein ligase RNF38 isoform X7 XP_016869786.1:p.Thr212_Tyr213= XP_016869786.1:p.Thr212fs
E3 ubiquitin-protein ligase RNF38 isoform X7 XP_016869785.1:p.Thr212_Tyr213= XP_016869785.1:p.Thr212fs
E3 ubiquitin-protein ligase RNF38 isoform X1 XP_047278750.1:p.Thr429_Tyr430= XP_047278750.1:p.Thr429fs
E3 ubiquitin-protein ligase RNF38 isoform X2 XP_047278751.1:p.Thr395_Tyr396= XP_047278751.1:p.Thr395fs
E3 ubiquitin-protein ligase RNF38 isoform X3 XP_047278752.1:p.Thr379_Tyr380= XP_047278752.1:p.Thr379fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278755.1:p.Thr242_Tyr243= XP_047278755.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278756.1:p.Thr242_Tyr243= XP_047278756.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278757.1:p.Thr242_Tyr243= XP_047278757.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278760.1:p.Thr242_Tyr243= XP_047278760.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X4 XP_047278753.1:p.Thr291_Tyr292= XP_047278753.1:p.Thr291fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278754.1:p.Thr242_Tyr243= XP_047278754.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278762.1:p.Thr242_Tyr243= XP_047278762.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278761.1:p.Thr242_Tyr243= XP_047278761.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278759.1:p.Thr242_Tyr243= XP_047278759.1:p.Thr242fs
E3 ubiquitin-protein ligase RNF38 isoform X6 XP_047278758.1:p.Thr242_Tyr243= XP_047278758.1:p.Thr242fs
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 submission
No Submitter Submission ID Date (Build)
1 GNOMAD ss2737605594 Nov 08, 2017 (151)
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
ss2737605594 NC_000009.11:36353265::TTTC NC_000009.12:36353268::TTTC (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1479541362

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.post820+afb47a3d