Name: rs1491481999
Published: September 21, 2022
License: Open Access

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.

rs1491481999

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:179968722-179968723 (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: ins(GT)₃G / ins(GT)₄G
Variation Type: Insertion
Frequency: None

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PEX5L : Intron Variant
LOC124909463 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

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

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 3	NC_000003.12:g.179968722_179968723insGTGTGTG
GRCh38.p14 chr 3	NC_000003.12:g.179968722_179968723insGTGTGTGTG
GRCh37.p13 chr 3	NC_000003.11:g.179686510_179686511insGTGTGTG
GRCh37.p13 chr 3	NC_000003.11:g.179686510_179686511insGTGTGTGTG

Gene: PEX5L, peroxisomal biogenesis factor 5 like (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PEX5L transcript variant 2	NM_001256750.2:c.21+67856… NM_001256750.2:c.21+67856_21+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 3	NM_001256751.2:c.21+67856… NM_001256751.2:c.21+67856_21+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 4	NM_001256752.2:c.93+2871_… NM_001256752.2:c.93+2871_93+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 5	NM_001256753.2:c.21+67856… NM_001256753.2:c.21+67856_21+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 6	NM_001256754.2:c.-37+2871… NM_001256754.2:c.-37+2871_-37+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 7	NM_001256755.2:c.-37+2871… NM_001256755.2:c.-37+2871_-37+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 8	NM_001256756.2:c.-379+287… NM_001256756.2:c.-379+2871_-379+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 9	NM_001349386.2:c.258+2871… NM_001349386.2:c.258+2871_258+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 10	NM_001349387.2:c.165+2871… NM_001349387.2:c.165+2871_165+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 11	NM_001349388.2:c.165+2871… NM_001349388.2:c.165+2871_165+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 12	NM_001349389.2:c.93+2871_… NM_001349389.2:c.93+2871_93+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 13	NM_001349390.2:c.258+2871… NM_001349390.2:c.258+2871_258+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 14	NM_001349391.2:c.258+2871… NM_001349391.2:c.258+2871_258+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 15	NM_001349392.2:c.165+2871… NM_001349392.2:c.165+2871_165+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 16	NM_001349393.2:c.165+2871… NM_001349393.2:c.165+2871_165+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 17	NM_001349394.2:c.165+2871… NM_001349394.2:c.165+2871_165+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 18	NM_001349395.2:c.-37+2871… NM_001349395.2:c.-37+2871_-37+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 19	NM_001349396.2:c.21+67856… NM_001349396.2:c.21+67856_21+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 20	NM_001349397.2:c.165+2871… NM_001349397.2:c.165+2871_165+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 21	NM_001349398.2:c.21+67856… NM_001349398.2:c.21+67856_21+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 22	NM_001349399.2:c.-372+678… NM_001349399.2:c.-372+67856_-372+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 23	NM_001349401.2:c.-267+678… NM_001349401.2:c.-267+67856_-267+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 24	NM_001349404.2:c.-72+6785… NM_001349404.2:c.-72+67856_-72+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant 25	NM_001349406.2:c.-267+287… NM_001349406.2:c.-267+2871_-267+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 26	NM_001349408.2:c.-372+287… NM_001349408.2:c.-372+2871_-372+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 27	NM_001349409.2:c.-372+287… NM_001349409.2:c.-372+2871_-372+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 28	NM_001349410.2:c.-184+287… NM_001349410.2:c.-184+2871_-184+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 1	NM_016559.3:c.93+2871_93+… NM_016559.3:c.93+2871_93+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant 29	NR_146167.2:n.	N/A	Intron Variant
PEX5L transcript variant X1	XM_024453590.2:c.258+2871… XM_024453590.2:c.258+2871_258+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant X2	XM_024453591.2:c.165+2871… XM_024453591.2:c.165+2871_165+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant X3	XM_024453592.2:c.258+2871… XM_024453592.2:c.258+2871_258+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant X5	XM_024453593.2:c.258+2871… XM_024453593.2:c.258+2871_258+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant X6	XM_047448297.1:c.93+2871_… XM_047448297.1:c.93+2871_93+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant X7	XM_047448298.1:c.93+2871_… XM_047448298.1:c.93+2871_93+2872insCACACAC	N/A	Intron Variant
PEX5L transcript variant X8	XM_047448299.1:c.21+67856… XM_047448299.1:c.21+67856_21+67857insCACACAC	N/A	Intron Variant
PEX5L transcript variant X4	XM_011512888.3:c.	N/A	Genic Upstream Transcript Variant
PEX5L transcript variant X9	XM_011512891.3:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC124909463, uncharacterized LOC124909463 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124909463 transcript	XR_007096182.1:n.	N/A	Intron Variant

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

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".

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, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2802998228	Jan 10, 2018 (151)
2	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133684561 (NC_000003.12:179968722::GTGTGTG 1/104822) Row 133684562 (NC_000003.12:179968722::GTGTGTGTG 2/104822)	-	Apr 26, 2021 (155)
3	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133684561 (NC_000003.12:179968722::GTGTGTG 1/104822) Row 133684562 (NC_000003.12:179968722::GTGTGTGTG 2/104822)	-	Apr 26, 2021 (155)

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
	NC_000003.12:179968722::GTGTGTG	NC_000003.12:179968722::GTGTGTG	(self)
ss2802998228	NC_000003.11:179686510::GTGTGTGTG	NC_000003.12:179968722::GTGTGTGTG	(self)
	NC_000003.12:179968722::GTGTGTGTG	NC_000003.12:179968722::GTGTGTGTG	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1491481999

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.

Choose placement

Placement	=	ins(GT)₃G	ins(GT)₄G
GRCh38.p14 chr 3	NC_000003.12:g.179968722_179968723=	NC_000003.12:g.179968722_179968723insGTGTGTG	NC_000003.12:g.179968722_179968723insGTGTGTGTG
GRCh37.p13 chr 3	NC_000003.11:g.179686510_179686511=	NC_000003.11:g.179686510_179686511insGTGTGTG	NC_000003.11:g.179686510_179686511insGTGTGTGTG
PEX5L transcript variant 2	NM_001256750.1:c.21+67856=	NM_001256750.1:c.21+67856_21+67857insCACACAC	NM_001256750.1:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 2	NM_001256750.2:c.21+67856=	NM_001256750.2:c.21+67856_21+67857insCACACAC	NM_001256750.2:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 3	NM_001256751.1:c.21+67856=	NM_001256751.1:c.21+67856_21+67857insCACACAC	NM_001256751.1:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 3	NM_001256751.2:c.21+67856=	NM_001256751.2:c.21+67856_21+67857insCACACAC	NM_001256751.2:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 4	NM_001256752.1:c.93+2871=	NM_001256752.1:c.93+2871_93+2872insCACACAC	NM_001256752.1:c.93+2871_93+2872insCACACACAC
PEX5L transcript variant 4	NM_001256752.2:c.93+2871=	NM_001256752.2:c.93+2871_93+2872insCACACAC	NM_001256752.2:c.93+2871_93+2872insCACACACAC
PEX5L transcript variant 5	NM_001256753.1:c.21+67856=	NM_001256753.1:c.21+67856_21+67857insCACACAC	NM_001256753.1:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 5	NM_001256753.2:c.21+67856=	NM_001256753.2:c.21+67856_21+67857insCACACAC	NM_001256753.2:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 6	NM_001256754.1:c.-37+2871=	NM_001256754.1:c.-37+2871_-37+2872insCACACAC	NM_001256754.1:c.-37+2871_-37+2872insCACACACAC
PEX5L transcript variant 6	NM_001256754.2:c.-37+2871=	NM_001256754.2:c.-37+2871_-37+2872insCACACAC	NM_001256754.2:c.-37+2871_-37+2872insCACACACAC
PEX5L transcript variant 7	NM_001256755.1:c.-37+2871=	NM_001256755.1:c.-37+2871_-37+2872insCACACAC	NM_001256755.1:c.-37+2871_-37+2872insCACACACAC
PEX5L transcript variant 7	NM_001256755.2:c.-37+2871=	NM_001256755.2:c.-37+2871_-37+2872insCACACAC	NM_001256755.2:c.-37+2871_-37+2872insCACACACAC
PEX5L transcript variant 8	NM_001256756.1:c.-379+2871=	NM_001256756.1:c.-379+2871_-379+2872insCACACAC	NM_001256756.1:c.-379+2871_-379+2872insCACACACAC
PEX5L transcript variant 8	NM_001256756.2:c.-379+2871=	NM_001256756.2:c.-379+2871_-379+2872insCACACAC	NM_001256756.2:c.-379+2871_-379+2872insCACACACAC
PEX5L transcript variant 9	NM_001349386.2:c.258+2871=	NM_001349386.2:c.258+2871_258+2872insCACACAC	NM_001349386.2:c.258+2871_258+2872insCACACACAC
PEX5L transcript variant 10	NM_001349387.2:c.165+2871=	NM_001349387.2:c.165+2871_165+2872insCACACAC	NM_001349387.2:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant 11	NM_001349388.2:c.165+2871=	NM_001349388.2:c.165+2871_165+2872insCACACAC	NM_001349388.2:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant 12	NM_001349389.2:c.93+2871=	NM_001349389.2:c.93+2871_93+2872insCACACAC	NM_001349389.2:c.93+2871_93+2872insCACACACAC
PEX5L transcript variant 13	NM_001349390.2:c.258+2871=	NM_001349390.2:c.258+2871_258+2872insCACACAC	NM_001349390.2:c.258+2871_258+2872insCACACACAC
PEX5L transcript variant 14	NM_001349391.2:c.258+2871=	NM_001349391.2:c.258+2871_258+2872insCACACAC	NM_001349391.2:c.258+2871_258+2872insCACACACAC
PEX5L transcript variant 15	NM_001349392.2:c.165+2871=	NM_001349392.2:c.165+2871_165+2872insCACACAC	NM_001349392.2:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant 16	NM_001349393.2:c.165+2871=	NM_001349393.2:c.165+2871_165+2872insCACACAC	NM_001349393.2:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant 17	NM_001349394.2:c.165+2871=	NM_001349394.2:c.165+2871_165+2872insCACACAC	NM_001349394.2:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant 18	NM_001349395.2:c.-37+2871=	NM_001349395.2:c.-37+2871_-37+2872insCACACAC	NM_001349395.2:c.-37+2871_-37+2872insCACACACAC
PEX5L transcript variant 19	NM_001349396.2:c.21+67856=	NM_001349396.2:c.21+67856_21+67857insCACACAC	NM_001349396.2:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 20	NM_001349397.2:c.165+2871=	NM_001349397.2:c.165+2871_165+2872insCACACAC	NM_001349397.2:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant 21	NM_001349398.2:c.21+67856=	NM_001349398.2:c.21+67856_21+67857insCACACAC	NM_001349398.2:c.21+67856_21+67857insCACACACAC
PEX5L transcript variant 22	NM_001349399.2:c.-372+67856=	NM_001349399.2:c.-372+67856_-372+67857insCACACAC	NM_001349399.2:c.-372+67856_-372+67857insCACACACAC
PEX5L transcript variant 23	NM_001349401.2:c.-267+67856=	NM_001349401.2:c.-267+67856_-267+67857insCACACAC	NM_001349401.2:c.-267+67856_-267+67857insCACACACAC
PEX5L transcript variant 24	NM_001349404.2:c.-72+67856=	NM_001349404.2:c.-72+67856_-72+67857insCACACAC	NM_001349404.2:c.-72+67856_-72+67857insCACACACAC
PEX5L transcript variant 25	NM_001349406.2:c.-267+2871=	NM_001349406.2:c.-267+2871_-267+2872insCACACAC	NM_001349406.2:c.-267+2871_-267+2872insCACACACAC
PEX5L transcript variant 26	NM_001349408.2:c.-372+2871=	NM_001349408.2:c.-372+2871_-372+2872insCACACAC	NM_001349408.2:c.-372+2871_-372+2872insCACACACAC
PEX5L transcript variant 27	NM_001349409.2:c.-372+2871=	NM_001349409.2:c.-372+2871_-372+2872insCACACAC	NM_001349409.2:c.-372+2871_-372+2872insCACACACAC
PEX5L transcript variant 28	NM_001349410.2:c.-184+2871=	NM_001349410.2:c.-184+2871_-184+2872insCACACAC	NM_001349410.2:c.-184+2871_-184+2872insCACACACAC
PEX5L transcript variant 1	NM_016559.2:c.93+2871=	NM_016559.2:c.93+2871_93+2872insCACACAC	NM_016559.2:c.93+2871_93+2872insCACACACAC
PEX5L transcript variant 1	NM_016559.3:c.93+2871=	NM_016559.3:c.93+2871_93+2872insCACACAC	NM_016559.3:c.93+2871_93+2872insCACACACAC
PEX5L transcript variant X1	XM_005247523.1:c.165+2871=	XM_005247523.1:c.165+2871_165+2872insCACACAC	XM_005247523.1:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant X2	XM_005247524.1:c.165+2871=	XM_005247524.1:c.165+2871_165+2872insCACACAC	XM_005247524.1:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant X3	XM_005247525.1:c.165+2871=	XM_005247525.1:c.165+2871_165+2872insCACACAC	XM_005247525.1:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant X1	XM_024453590.2:c.258+2871=	XM_024453590.2:c.258+2871_258+2872insCACACAC	XM_024453590.2:c.258+2871_258+2872insCACACACAC
PEX5L transcript variant X2	XM_024453591.2:c.165+2871=	XM_024453591.2:c.165+2871_165+2872insCACACAC	XM_024453591.2:c.165+2871_165+2872insCACACACAC
PEX5L transcript variant X3	XM_024453592.2:c.258+2871=	XM_024453592.2:c.258+2871_258+2872insCACACAC	XM_024453592.2:c.258+2871_258+2872insCACACACAC
PEX5L transcript variant X5	XM_024453593.2:c.258+2871=	XM_024453593.2:c.258+2871_258+2872insCACACAC	XM_024453593.2:c.258+2871_258+2872insCACACACAC
PEX5L transcript variant X6	XM_047448297.1:c.93+2871=	XM_047448297.1:c.93+2871_93+2872insCACACAC	XM_047448297.1:c.93+2871_93+2872insCACACACAC
PEX5L transcript variant X7	XM_047448298.1:c.93+2871=	XM_047448298.1:c.93+2871_93+2872insCACACAC	XM_047448298.1:c.93+2871_93+2872insCACACACAC
PEX5L transcript variant X8	XM_047448299.1:c.21+67856=	XM_047448299.1:c.21+67856_21+67857insCACACAC	XM_047448299.1:c.21+67856_21+67857insCACACACAC

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491481999