Name: rs1313336484
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.

rs1313336484

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:20168645-20168660 (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 / delTTT / delTT / delT / …
del(T)₅ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00944 (146/15474, ALFA)
dupT=0.0895 (573/6404, 1000G_30x)
dupT=0.4 (3/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SGO1 : Intron 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	15474	TTTTTTTTTTTTTTTT=0.99044	TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00944, TTTTTTTTTTTTTTTTTT=0.00013	0.98254	0.001423	0.016037	32
European	Sub	11630	TTTTTTTTTTTTTTTT=0.98727	TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.01255, TTTTTTTTTTTTTTTTTT=0.00017	0.976764	0.001893	0.021343	32
African	Sub	2598	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	104	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2494	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	82	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	130	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	540	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	58	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	436	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	15474	(T)₁₆=0.99044	delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00944, dupTT=0.00013
Allele Frequency Aggregator	European	Sub	11630	(T)₁₆=0.98727	delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01255, dupTT=0.00017
Allele Frequency Aggregator	African	Sub	2598	(T)₁₆=1.0000	delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	540	(T)₁₆=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	436	(T)₁₆=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	130	(T)₁₆=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	82	(T)₁₆=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	58	(T)₁₆=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
1000Genomes_30x	Global	Study-wide	6404	- No frequency provided	dupT=0.0895
1000Genomes_30x	African	Sub	1786	- No frequency provided	dupT=0.0448
1000Genomes_30x	Europe	Sub	1266	- No frequency provided	dupT=0.0403
1000Genomes_30x	South Asian	Sub	1202	- No frequency provided	dupT=0.1689
1000Genomes_30x	East Asian	Sub	1170	- No frequency provided	dupT=0.1462
1000Genomes_30x	American	Sub	980	- No frequency provided	dupT=0.069
KOREAN population from KRGDB	KOREAN	Study-wide	8	- No frequency provided	dupT=0.4

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.20168656_20168660del
GRCh38.p14 chr 3	NC_000003.12:g.20168658_20168660del
GRCh38.p14 chr 3	NC_000003.12:g.20168659_20168660del
GRCh38.p14 chr 3	NC_000003.12:g.20168660del
GRCh38.p14 chr 3	NC_000003.12:g.20168660dup
GRCh38.p14 chr 3	NC_000003.12:g.20168659_20168660dup
GRCh38.p14 chr 3	NC_000003.12:g.20168658_20168660dup
GRCh38.p14 chr 3	NC_000003.12:g.20168657_20168660dup
GRCh37.p13 chr 3	NC_000003.11:g.20210148_20210152del
GRCh37.p13 chr 3	NC_000003.11:g.20210150_20210152del
GRCh37.p13 chr 3	NC_000003.11:g.20210151_20210152del
GRCh37.p13 chr 3	NC_000003.11:g.20210152del
GRCh37.p13 chr 3	NC_000003.11:g.20210152dup
GRCh37.p13 chr 3	NC_000003.11:g.20210151_20210152dup
GRCh37.p13 chr 3	NC_000003.11:g.20210150_20210152dup
GRCh37.p13 chr 3	NC_000003.11:g.20210149_20210152dup
SGO1 RefSeqGene	NG_042062.1:g.22583_22587del
SGO1 RefSeqGene	NG_042062.1:g.22585_22587del
SGO1 RefSeqGene	NG_042062.1:g.22586_22587del
SGO1 RefSeqGene	NG_042062.1:g.22587del
SGO1 RefSeqGene	NG_042062.1:g.22587dup
SGO1 RefSeqGene	NG_042062.1:g.22586_22587dup
SGO1 RefSeqGene	NG_042062.1:g.22585_22587dup
SGO1 RefSeqGene	NG_042062.1:g.22584_22587dup

Gene: SGO1, shugoshin 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SGO1 transcript variant Sgo1F	NM_001012410.5:c.1564+207… NM_001012410.5:c.1564+2075_1564+2079del	N/A	Intron Variant
SGO1 transcript variant Sgo1H	NM_001012412.5:c.808+2075… NM_001012412.5:c.808+2075_808+2079del	N/A	Intron Variant
SGO1 transcript variant Sgo1E	NM_001199252.3:c.1564+207… NM_001199252.3:c.1564+2075_1564+2079del	N/A	Intron Variant
SGO1 transcript variant Sgo1G	NM_001199254.3:c.808+2075… NM_001199254.3:c.808+2075_808+2079del	N/A	Intron Variant
SGO1 transcript variant Sgo1K	NM_001199256.3:c.757+2075… NM_001199256.3:c.757+2075_757+2079del	N/A	Intron Variant
SGO1 transcript variant Sgo1J	NM_001199257.3:c.526+6356… NM_001199257.3:c.526+6356_526+6360del	N/A	Intron Variant
SGO1 transcript variant Sgo1L	NM_138484.5:c.757+2075_75… NM_138484.5:c.757+2075_757+2079del	N/A	Intron Variant
SGO1 transcript variant A1	NM_001012409.4:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant Sgo1C	NM_001012411.4:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant Sgo1B	NM_001012413.4:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant 1	NM_001199251.3:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant Sgo1D	NM_001199253.3:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant Sgo1A	NM_001199255.3:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant 14	NR_131179.2:n.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant 15	NR_131180.2:n.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant X1	XM_011533373.3:c.1564+207… XM_011533373.3:c.1564+2075_1564+2079del	N/A	Intron Variant
SGO1 transcript variant X3	XM_011533375.3:c.1564+207… XM_011533375.3:c.1564+2075_1564+2079del	N/A	Intron Variant
SGO1 transcript variant X2	XM_011533376.3:c.1564+207… XM_011533376.3:c.1564+2075_1564+2079del	N/A	Intron Variant
SGO1 transcript variant X4	XM_011533377.3:c.1564+207… XM_011533377.3:c.1564+2075_1564+2079del	N/A	Intron Variant
SGO1 transcript variant X5	XM_047447486.1:c.808+2075… XM_047447486.1:c.808+2075_808+2079del	N/A	Intron Variant
SGO1 transcript variant X6	XM_047447487.1:c.757+2075… XM_047447487.1:c.757+2075_757+2079del	N/A	Intron Variant
SGO1 transcript variant X7	XM_047447488.1:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant X8	XM_047447489.1:c.	N/A	Genic Downstream Transcript Variant
SGO1 transcript variant X9	XM_047447490.1:c.	N/A	Genic Downstream Transcript 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".

Placement	(T)₁₆=	del(T)₅	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄
GRCh38.p14 chr 3	NC_000003.12:g.20168645_20168660=	NC_000003.12:g.20168656_20168660del	NC_000003.12:g.20168658_20168660del	NC_000003.12:g.20168659_20168660del	NC_000003.12:g.20168660del	NC_000003.12:g.20168660dup	NC_000003.12:g.20168659_20168660dup	NC_000003.12:g.20168658_20168660dup	NC_000003.12:g.20168657_20168660dup
GRCh37.p13 chr 3	NC_000003.11:g.20210137_20210152=	NC_000003.11:g.20210148_20210152del	NC_000003.11:g.20210150_20210152del	NC_000003.11:g.20210151_20210152del	NC_000003.11:g.20210152del	NC_000003.11:g.20210152dup	NC_000003.11:g.20210151_20210152dup	NC_000003.11:g.20210150_20210152dup	NC_000003.11:g.20210149_20210152dup
SGO1 RefSeqGene	NG_042062.1:g.22572_22587=	NG_042062.1:g.22583_22587del	NG_042062.1:g.22585_22587del	NG_042062.1:g.22586_22587del	NG_042062.1:g.22587del	NG_042062.1:g.22587dup	NG_042062.1:g.22586_22587dup	NG_042062.1:g.22585_22587dup	NG_042062.1:g.22584_22587dup
SGOL1 transcript variant A1	NM_001012409.2:c.2044_2059=	NM_001012409.2:c.2055_2059del	NM_001012409.2:c.2057_2059del	NM_001012409.2:c.2058_2059del	NM_001012409.2:c.*2059del	NM_001012409.2:c.*2059dup	NM_001012409.2:c.2058_2059dup	NM_001012409.2:c.2057_2059dup	NM_001012409.2:c.2056_2059dup
SGOL1 transcript variant B1	NM_001012411.2:c.2044_2059=	NM_001012411.2:c.2055_2059del	NM_001012411.2:c.2057_2059del	NM_001012411.2:c.2058_2059del	NM_001012411.2:c.*2059del	NM_001012411.2:c.*2059dup	NM_001012411.2:c.2058_2059dup	NM_001012411.2:c.2057_2059dup	NM_001012411.2:c.2056_2059dup
SGOL1 transcript variant C1	NM_001012413.2:c.2044_2059=	NM_001012413.2:c.2055_2059del	NM_001012413.2:c.2057_2059del	NM_001012413.2:c.2058_2059del	NM_001012413.2:c.*2059del	NM_001012413.2:c.*2059dup	NM_001012413.2:c.2058_2059dup	NM_001012413.2:c.2057_2059dup	NM_001012413.2:c.2056_2059dup
SGOL1 transcript variant A3	NM_001199251.1:c.2044_2059=	NM_001199251.1:c.2055_2059del	NM_001199251.1:c.2057_2059del	NM_001199251.1:c.2058_2059del	NM_001199251.1:c.*2059del	NM_001199251.1:c.*2059dup	NM_001199251.1:c.2058_2059dup	NM_001199251.1:c.2057_2059dup	NM_001199251.1:c.2056_2059dup
SGOL1 transcript variant B3	NM_001199253.1:c.2044_2059=	NM_001199253.1:c.2055_2059del	NM_001199253.1:c.2057_2059del	NM_001199253.1:c.2058_2059del	NM_001199253.1:c.*2059del	NM_001199253.1:c.*2059dup	NM_001199253.1:c.2058_2059dup	NM_001199253.1:c.2057_2059dup	NM_001199253.1:c.2056_2059dup
SGOL1 transcript variant C3	NM_001199255.1:c.2044_2059=	NM_001199255.1:c.2055_2059del	NM_001199255.1:c.2057_2059del	NM_001199255.1:c.2058_2059del	NM_001199255.1:c.*2059del	NM_001199255.1:c.*2059dup	NM_001199255.1:c.2058_2059dup	NM_001199255.1:c.2057_2059dup	NM_001199255.1:c.2056_2059dup
SGOL1 transcript variant A2	NM_001012410.3:c.1564+2079=	NM_001012410.3:c.1564+2075_1564+2079del	NM_001012410.3:c.1564+2077_1564+2079del	NM_001012410.3:c.1564+2078_1564+2079del	NM_001012410.3:c.1564+2079del	NM_001012410.3:c.1564+2079dup	NM_001012410.3:c.1564+2078_1564+2079dup	NM_001012410.3:c.1564+2077_1564+2079dup	NM_001012410.3:c.1564+2076_1564+2079dup
SGO1 transcript variant Sgo1F	NM_001012410.5:c.1564+2079=	NM_001012410.5:c.1564+2075_1564+2079del	NM_001012410.5:c.1564+2077_1564+2079del	NM_001012410.5:c.1564+2078_1564+2079del	NM_001012410.5:c.1564+2079del	NM_001012410.5:c.1564+2079dup	NM_001012410.5:c.1564+2078_1564+2079dup	NM_001012410.5:c.1564+2077_1564+2079dup	NM_001012410.5:c.1564+2076_1564+2079dup
SGOL1 transcript variant B2	NM_001012412.3:c.808+2079=	NM_001012412.3:c.808+2075_808+2079del	NM_001012412.3:c.808+2077_808+2079del	NM_001012412.3:c.808+2078_808+2079del	NM_001012412.3:c.808+2079del	NM_001012412.3:c.808+2079dup	NM_001012412.3:c.808+2078_808+2079dup	NM_001012412.3:c.808+2077_808+2079dup	NM_001012412.3:c.808+2076_808+2079dup
SGO1 transcript variant Sgo1H	NM_001012412.5:c.808+2079=	NM_001012412.5:c.808+2075_808+2079del	NM_001012412.5:c.808+2077_808+2079del	NM_001012412.5:c.808+2078_808+2079del	NM_001012412.5:c.808+2079del	NM_001012412.5:c.808+2079dup	NM_001012412.5:c.808+2078_808+2079dup	NM_001012412.5:c.808+2077_808+2079dup	NM_001012412.5:c.808+2076_808+2079dup
SGOL1 transcript variant A4	NM_001199252.1:c.1564+2079=	NM_001199252.1:c.1564+2075_1564+2079del	NM_001199252.1:c.1564+2077_1564+2079del	NM_001199252.1:c.1564+2078_1564+2079del	NM_001199252.1:c.1564+2079del	NM_001199252.1:c.1564+2079dup	NM_001199252.1:c.1564+2078_1564+2079dup	NM_001199252.1:c.1564+2077_1564+2079dup	NM_001199252.1:c.1564+2076_1564+2079dup
SGO1 transcript variant Sgo1E	NM_001199252.3:c.1564+2079=	NM_001199252.3:c.1564+2075_1564+2079del	NM_001199252.3:c.1564+2077_1564+2079del	NM_001199252.3:c.1564+2078_1564+2079del	NM_001199252.3:c.1564+2079del	NM_001199252.3:c.1564+2079dup	NM_001199252.3:c.1564+2078_1564+2079dup	NM_001199252.3:c.1564+2077_1564+2079dup	NM_001199252.3:c.1564+2076_1564+2079dup
SGOL1 transcript variant B4	NM_001199254.1:c.808+2079=	NM_001199254.1:c.808+2075_808+2079del	NM_001199254.1:c.808+2077_808+2079del	NM_001199254.1:c.808+2078_808+2079del	NM_001199254.1:c.808+2079del	NM_001199254.1:c.808+2079dup	NM_001199254.1:c.808+2078_808+2079dup	NM_001199254.1:c.808+2077_808+2079dup	NM_001199254.1:c.808+2076_808+2079dup
SGO1 transcript variant Sgo1G	NM_001199254.3:c.808+2079=	NM_001199254.3:c.808+2075_808+2079del	NM_001199254.3:c.808+2077_808+2079del	NM_001199254.3:c.808+2078_808+2079del	NM_001199254.3:c.808+2079del	NM_001199254.3:c.808+2079dup	NM_001199254.3:c.808+2078_808+2079dup	NM_001199254.3:c.808+2077_808+2079dup	NM_001199254.3:c.808+2076_808+2079dup
SGOL1 transcript variant C4	NM_001199256.1:c.757+2079=	NM_001199256.1:c.757+2075_757+2079del	NM_001199256.1:c.757+2077_757+2079del	NM_001199256.1:c.757+2078_757+2079del	NM_001199256.1:c.757+2079del	NM_001199256.1:c.757+2079dup	NM_001199256.1:c.757+2078_757+2079dup	NM_001199256.1:c.757+2077_757+2079dup	NM_001199256.1:c.757+2076_757+2079dup
SGO1 transcript variant Sgo1K	NM_001199256.3:c.757+2079=	NM_001199256.3:c.757+2075_757+2079del	NM_001199256.3:c.757+2077_757+2079del	NM_001199256.3:c.757+2078_757+2079del	NM_001199256.3:c.757+2079del	NM_001199256.3:c.757+2079dup	NM_001199256.3:c.757+2078_757+2079dup	NM_001199256.3:c.757+2077_757+2079dup	NM_001199256.3:c.757+2076_757+2079dup
SGOL1 transcript variant D1	NM_001199257.1:c.526+6360=	NM_001199257.1:c.526+6356_526+6360del	NM_001199257.1:c.526+6358_526+6360del	NM_001199257.1:c.526+6359_526+6360del	NM_001199257.1:c.526+6360del	NM_001199257.1:c.526+6360dup	NM_001199257.1:c.526+6359_526+6360dup	NM_001199257.1:c.526+6358_526+6360dup	NM_001199257.1:c.526+6357_526+6360dup
SGO1 transcript variant Sgo1J	NM_001199257.3:c.526+6360=	NM_001199257.3:c.526+6356_526+6360del	NM_001199257.3:c.526+6358_526+6360del	NM_001199257.3:c.526+6359_526+6360del	NM_001199257.3:c.526+6360del	NM_001199257.3:c.526+6360dup	NM_001199257.3:c.526+6359_526+6360dup	NM_001199257.3:c.526+6358_526+6360dup	NM_001199257.3:c.526+6357_526+6360dup
SGOL1 transcript variant C2	NM_138484.3:c.757+2079=	NM_138484.3:c.757+2075_757+2079del	NM_138484.3:c.757+2077_757+2079del	NM_138484.3:c.757+2078_757+2079del	NM_138484.3:c.757+2079del	NM_138484.3:c.757+2079dup	NM_138484.3:c.757+2078_757+2079dup	NM_138484.3:c.757+2077_757+2079dup	NM_138484.3:c.757+2076_757+2079dup
SGO1 transcript variant Sgo1L	NM_138484.5:c.757+2079=	NM_138484.5:c.757+2075_757+2079del	NM_138484.5:c.757+2077_757+2079del	NM_138484.5:c.757+2078_757+2079del	NM_138484.5:c.757+2079del	NM_138484.5:c.757+2079dup	NM_138484.5:c.757+2078_757+2079dup	NM_138484.5:c.757+2077_757+2079dup	NM_138484.5:c.757+2076_757+2079dup
SGO1 transcript variant X1	XM_011533373.3:c.1564+2079=	XM_011533373.3:c.1564+2075_1564+2079del	XM_011533373.3:c.1564+2077_1564+2079del	XM_011533373.3:c.1564+2078_1564+2079del	XM_011533373.3:c.1564+2079del	XM_011533373.3:c.1564+2079dup	XM_011533373.3:c.1564+2078_1564+2079dup	XM_011533373.3:c.1564+2077_1564+2079dup	XM_011533373.3:c.1564+2076_1564+2079dup
SGO1 transcript variant X3	XM_011533375.3:c.1564+2079=	XM_011533375.3:c.1564+2075_1564+2079del	XM_011533375.3:c.1564+2077_1564+2079del	XM_011533375.3:c.1564+2078_1564+2079del	XM_011533375.3:c.1564+2079del	XM_011533375.3:c.1564+2079dup	XM_011533375.3:c.1564+2078_1564+2079dup	XM_011533375.3:c.1564+2077_1564+2079dup	XM_011533375.3:c.1564+2076_1564+2079dup
SGO1 transcript variant X2	XM_011533376.3:c.1564+2079=	XM_011533376.3:c.1564+2075_1564+2079del	XM_011533376.3:c.1564+2077_1564+2079del	XM_011533376.3:c.1564+2078_1564+2079del	XM_011533376.3:c.1564+2079del	XM_011533376.3:c.1564+2079dup	XM_011533376.3:c.1564+2078_1564+2079dup	XM_011533376.3:c.1564+2077_1564+2079dup	XM_011533376.3:c.1564+2076_1564+2079dup
SGO1 transcript variant X4	XM_011533377.3:c.1564+2079=	XM_011533377.3:c.1564+2075_1564+2079del	XM_011533377.3:c.1564+2077_1564+2079del	XM_011533377.3:c.1564+2078_1564+2079del	XM_011533377.3:c.1564+2079del	XM_011533377.3:c.1564+2079dup	XM_011533377.3:c.1564+2078_1564+2079dup	XM_011533377.3:c.1564+2077_1564+2079dup	XM_011533377.3:c.1564+2076_1564+2079dup
SGO1 transcript variant X5	XM_047447486.1:c.808+2079=	XM_047447486.1:c.808+2075_808+2079del	XM_047447486.1:c.808+2077_808+2079del	XM_047447486.1:c.808+2078_808+2079del	XM_047447486.1:c.808+2079del	XM_047447486.1:c.808+2079dup	XM_047447486.1:c.808+2078_808+2079dup	XM_047447486.1:c.808+2077_808+2079dup	XM_047447486.1:c.808+2076_808+2079dup
SGO1 transcript variant X6	XM_047447487.1:c.757+2079=	XM_047447487.1:c.757+2075_757+2079del	XM_047447487.1:c.757+2077_757+2079del	XM_047447487.1:c.757+2078_757+2079del	XM_047447487.1:c.757+2079del	XM_047447487.1:c.757+2079dup	XM_047447487.1:c.757+2078_757+2079dup	XM_047447487.1:c.757+2077_757+2079dup	XM_047447487.1:c.757+2076_757+2079dup

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#.

28 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss2991932186	Nov 08, 2017 (151)
2	INMEGENXS	ss3745654193	Jul 13, 2019 (153)
3	EVA	ss3827692103	Apr 25, 2020 (154)
4	KRGDB	ss3901145867	Apr 25, 2020 (154)
5	KOGIC	ss3950792727	Apr 25, 2020 (154)
6	KOGIC	ss3950792728	Apr 25, 2020 (154)
7	KOGIC	ss3950792729	Apr 25, 2020 (154)
8	GNOMAD	ss4066940911	Apr 26, 2021 (155)
9	GNOMAD	ss4066940912	Apr 26, 2021 (155)
10	GNOMAD	ss4066940913	Apr 26, 2021 (155)
11	GNOMAD	ss4066940914	Apr 26, 2021 (155)
12	GNOMAD	ss4066940915	Apr 26, 2021 (155)
13	GNOMAD	ss4066940916	Apr 26, 2021 (155)
14	GNOMAD	ss4066940917	Apr 26, 2021 (155)
15	GNOMAD	ss4066940918	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5158086665	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5158086666	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5158086667	Apr 26, 2021 (155)
19	1000G_HIGH_COVERAGE	ss5253269993	Oct 13, 2022 (156)
20	HUGCELL_USP	ss5452745300	Oct 13, 2022 (156)
21	HUGCELL_USP	ss5452745301	Oct 13, 2022 (156)
22	HUGCELL_USP	ss5452745302	Oct 13, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5531214096	Oct 13, 2022 (156)
24	TOMMO_GENOMICS	ss5689436861	Oct 13, 2022 (156)
25	TOMMO_GENOMICS	ss5689436862	Oct 13, 2022 (156)
26	TOMMO_GENOMICS	ss5689436864	Oct 13, 2022 (156)
27	YY_MCH	ss5803536480	Oct 13, 2022 (156)
28	EVA	ss5853517322	Oct 13, 2022 (156)
29	1000Genomes_30x	NC_000003.12 - 20168645	Oct 13, 2022 (156)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 100873800 (NC_000003.12:20168644::T 4778/119170) Row 100873801 (NC_000003.12:20168644::TT 30/119240) Row 100873802 (NC_000003.12:20168644::TTT 3/119260)...	-	Apr 26, 2021 (155)
38	KOREAN population from KRGDB	NC_000003.11 - 20210137	Apr 25, 2020 (154)
39	Korean Genome Project Submission ignored due to conflicting rows: Row 7170728 (NC_000003.12:20168645::T 369/1828) Row 7170729 (NC_000003.12:20168644:T: 108/1828) Row 7170730 (NC_000003.12:20168645::TT 14/1828)	-	Apr 25, 2020 (154)
40	Korean Genome Project Submission ignored due to conflicting rows: Row 7170728 (NC_000003.12:20168645::T 369/1828) Row 7170729 (NC_000003.12:20168644:T: 108/1828) Row 7170730 (NC_000003.12:20168645::TT 14/1828)	-	Apr 25, 2020 (154)
41	Korean Genome Project Submission ignored due to conflicting rows: Row 7170728 (NC_000003.12:20168645::T 369/1828) Row 7170729 (NC_000003.12:20168644:T: 108/1828) Row 7170730 (NC_000003.12:20168645::TT 14/1828)	-	Apr 25, 2020 (154)
42	8.3KJPN Submission ignored due to conflicting rows: Row 16055972 (NC_000003.11:20210136::T 2519/16732) Row 16055973 (NC_000003.11:20210136:T: 11/16732) Row 16055974 (NC_000003.11:20210136::TT 7/16732)	-	Apr 26, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 16055972 (NC_000003.11:20210136::T 2519/16732) Row 16055973 (NC_000003.11:20210136:T: 11/16732) Row 16055974 (NC_000003.11:20210136::TT 7/16732)	-	Apr 26, 2021 (155)
44	8.3KJPN Submission ignored due to conflicting rows: Row 16055972 (NC_000003.11:20210136::T 2519/16732) Row 16055973 (NC_000003.11:20210136:T: 11/16732) Row 16055974 (NC_000003.11:20210136::TT 7/16732)	-	Apr 26, 2021 (155)
45	14KJPN Submission ignored due to conflicting rows: Row 23273965 (NC_000003.12:20168644::T 4431/28258) Row 23273966 (NC_000003.12:20168644:T: 12/28258) Row 23273968 (NC_000003.12:20168644::TT 11/28258)	-	Oct 13, 2022 (156)
46	14KJPN Submission ignored due to conflicting rows: Row 23273965 (NC_000003.12:20168644::T 4431/28258) Row 23273966 (NC_000003.12:20168644:T: 12/28258) Row 23273968 (NC_000003.12:20168644::TT 11/28258)	-	Oct 13, 2022 (156)
47	14KJPN Submission ignored due to conflicting rows: Row 23273965 (NC_000003.12:20168644::T 4431/28258) Row 23273966 (NC_000003.12:20168644:T: 12/28258) Row 23273968 (NC_000003.12:20168644::TT 11/28258)	-	Oct 13, 2022 (156)
48	ALFA	NC_000003.12 - 20168645	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
ss4066940918	NC_000003.12:20168644:TTTTT:	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4066940917, ss5452745302	NC_000003.12:20168644:TTT:	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
13895729341	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4066940916	NC_000003.12:20168644:TT:	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13895729341	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss2991932186, ss5158086666	NC_000003.11:20210136:T:	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3950792728, ss4066940915, ss5452745300, ss5689436862	NC_000003.12:20168644:T:	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
13895729341	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8323261, ss3745654193, ss3827692103, ss3901145867, ss5158086665	NC_000003.11:20210136::T	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
18740031, ss4066940911, ss5253269993, ss5452745301, ss5531214096, ss5689436861, ss5803536480, ss5853517322	NC_000003.12:20168644::T	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13895729341	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3950792727	NC_000003.12:20168645::T	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5158086667	NC_000003.11:20210136::TT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4066940912, ss5689436864	NC_000003.12:20168644::TT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13895729341	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3950792729	NC_000003.12:20168645::TT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4066940913	NC_000003.12:20168644::TTT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4066940914	NC_000003.12:20168644::TTTT	NC_000003.12:20168644:TTTTTTTTTTTT… NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(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 rs1313336484

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1313336484