Name: rs111487536
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.

rs111487536

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:102099476-102099489 (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: delTT / delT / dupT / dupTT / dupT…
delTT / delT / dupT / dupTT / dupTTT / dup(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.1255 (1088/8668, ALFA)
dupT=0.2821 (1413/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CUX1 : 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	8668	TTTTTTTTTTTTTT=0.8240	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTT=0.1255, TTTTTTTTTTTTTTTT=0.0504, TTTTTTTTTTTTTTTTT=0.0000	0.79919	0.050393	0.150418	32
European	Sub	7634	TTTTTTTTTTTTTT=0.8004	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTT=0.1423, TTTTTTTTTTTTTTTT=0.0572, TTTTTTTTTTTTTTTTT=0.0000	0.769522	0.057984	0.172494	32
African	Sub	418	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	18	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	400	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	96	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	46	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	240	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	44	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	190	TTTTTTTTTTTTTT=0.989	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.011, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	0.978947	0.0	0.021053	0

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	8668	(T)₁₄=0.8240	delTT=0.0000, delT=0.0001, dupT=0.1255, dupTT=0.0504, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	7634	(T)₁₄=0.8004	delTT=0.0000, delT=0.0001, dupT=0.1423, dupTT=0.0572, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	418	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	240	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	190	(T)₁₄=0.989	delTT=0.000, delT=0.000, dupT=0.011, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Asian	Sub	96	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	46	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	44	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.2821
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.4561
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.0437
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.3300
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.253
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.269

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 7	NC_000007.14:g.102099488_102099489del
GRCh38.p14 chr 7	NC_000007.14:g.102099489del
GRCh38.p14 chr 7	NC_000007.14:g.102099489dup
GRCh38.p14 chr 7	NC_000007.14:g.102099488_102099489dup
GRCh38.p14 chr 7	NC_000007.14:g.102099487_102099489dup
GRCh38.p14 chr 7	NC_000007.14:g.102099486_102099489dup
GRCh37.p13 chr 7	NC_000007.13:g.101742768_101742769del
GRCh37.p13 chr 7	NC_000007.13:g.101742769del
GRCh37.p13 chr 7	NC_000007.13:g.101742769dup
GRCh37.p13 chr 7	NC_000007.13:g.101742768_101742769dup
GRCh37.p13 chr 7	NC_000007.13:g.101742767_101742769dup
GRCh37.p13 chr 7	NC_000007.13:g.101742766_101742769dup
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.288585_288586del
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.288586del
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.288586dup
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.288585_288586dup
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.288584_288586dup
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.288583_288586dup
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.23818_23819del
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.23819del
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.23819dup
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.23818_23819dup
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.23817_23819dup
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.23816_23819dup

Gene: CUX1, cut like homeobox 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CUX1 transcript variant 4	NM_001202543.2:c.439+1987… NM_001202543.2:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant 5	NM_001202544.3:c.391+1987… NM_001202544.3:c.391+1987_391+1988del	N/A	Intron Variant
CUX1 transcript variant 6	NM_001202545.3:c.302-4848… NM_001202545.3:c.302-4848_302-4847del	N/A	Intron Variant
CUX1 transcript variant 7	NM_001202546.3:c.328+1987… NM_001202546.3:c.328+1987_328+1988del	N/A	Intron Variant
CUX1 transcript variant 2	NM_001913.5:c.439+1987_43… NM_001913.5:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant 3	NM_181500.4:c.439+1987_43… NM_181500.4:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant 1	NM_181552.4:c.406+1987_40… NM_181552.4:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X1	XM_005250150.4:c.406+1987… XM_005250150.4:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X18	XM_005250154.4:c.406+1987… XM_005250154.4:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X4	XM_006715854.3:c.406+1987… XM_006715854.3:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X13	XM_011515825.3:c.439+1987… XM_011515825.3:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X12	XM_017011760.3:c.439+1987… XM_017011760.3:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X8	XM_024446668.2:c.406+1987… XM_024446668.2:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X2	XM_047419906.1:c.406+1987… XM_047419906.1:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X3	XM_047419907.1:c.406+1987… XM_047419907.1:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X5	XM_047419908.1:c.439+1987… XM_047419908.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X6	XM_047419909.1:c.439+1987… XM_047419909.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X7	XM_047419910.1:c.439+1987… XM_047419910.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X9	XM_047419911.1:c.406+1987… XM_047419911.1:c.406+1987_406+1988del	N/A	Intron Variant
CUX1 transcript variant X10	XM_047419912.1:c.439+1987… XM_047419912.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X11	XM_047419913.1:c.439+1987… XM_047419913.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X14	XM_047419914.1:c.439+1987… XM_047419914.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X15	XM_047419915.1:c.439+1987… XM_047419915.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X16	XM_047419916.1:c.439+1987… XM_047419916.1:c.439+1987_439+1988del	N/A	Intron Variant
CUX1 transcript variant X17	XM_047419917.1:c.439+1987… XM_047419917.1:c.439+1987_439+1988del	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".

Placement	(T)₁₄=	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄
GRCh38.p14 chr 7	NC_000007.14:g.102099476_102099489=	NC_000007.14:g.102099488_102099489del	NC_000007.14:g.102099489del	NC_000007.14:g.102099489dup	NC_000007.14:g.102099488_102099489dup	NC_000007.14:g.102099487_102099489dup	NC_000007.14:g.102099486_102099489dup
GRCh37.p13 chr 7	NC_000007.13:g.101742756_101742769=	NC_000007.13:g.101742768_101742769del	NC_000007.13:g.101742769del	NC_000007.13:g.101742769dup	NC_000007.13:g.101742768_101742769dup	NC_000007.13:g.101742767_101742769dup	NC_000007.13:g.101742766_101742769dup
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.288573_288586=	NG_029476.2:g.288585_288586del	NG_029476.2:g.288586del	NG_029476.2:g.288586dup	NG_029476.2:g.288585_288586dup	NG_029476.2:g.288584_288586dup	NG_029476.2:g.288583_288586dup
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.23806_23819=	NW_003571037.1:g.23818_23819del	NW_003571037.1:g.23819del	NW_003571037.1:g.23819dup	NW_003571037.1:g.23818_23819dup	NW_003571037.1:g.23817_23819dup	NW_003571037.1:g.23816_23819dup
CUX1 transcript variant 4	NM_001202543.1:c.439+1975=	NM_001202543.1:c.439+1987_439+1988del	NM_001202543.1:c.439+1988del	NM_001202543.1:c.439+1988dup	NM_001202543.1:c.439+1987_439+1988dup	NM_001202543.1:c.439+1986_439+1988dup	NM_001202543.1:c.439+1985_439+1988dup
CUX1 transcript variant 4	NM_001202543.2:c.439+1975=	NM_001202543.2:c.439+1987_439+1988del	NM_001202543.2:c.439+1988del	NM_001202543.2:c.439+1988dup	NM_001202543.2:c.439+1987_439+1988dup	NM_001202543.2:c.439+1986_439+1988dup	NM_001202543.2:c.439+1985_439+1988dup
CUX1 transcript variant 5	NM_001202544.1:c.391+1975=	NM_001202544.1:c.391+1987_391+1988del	NM_001202544.1:c.391+1988del	NM_001202544.1:c.391+1988dup	NM_001202544.1:c.391+1987_391+1988dup	NM_001202544.1:c.391+1986_391+1988dup	NM_001202544.1:c.391+1985_391+1988dup
CUX1 transcript variant 5	NM_001202544.3:c.391+1975=	NM_001202544.3:c.391+1987_391+1988del	NM_001202544.3:c.391+1988del	NM_001202544.3:c.391+1988dup	NM_001202544.3:c.391+1987_391+1988dup	NM_001202544.3:c.391+1986_391+1988dup	NM_001202544.3:c.391+1985_391+1988dup
CUX1 transcript variant 6	NM_001202545.1:c.302-4860=	NM_001202545.1:c.302-4848_302-4847del	NM_001202545.1:c.302-4847del	NM_001202545.1:c.302-4847dup	NM_001202545.1:c.302-4848_302-4847dup	NM_001202545.1:c.302-4849_302-4847dup	NM_001202545.1:c.302-4850_302-4847dup
CUX1 transcript variant 6	NM_001202545.3:c.302-4860=	NM_001202545.3:c.302-4848_302-4847del	NM_001202545.3:c.302-4847del	NM_001202545.3:c.302-4847dup	NM_001202545.3:c.302-4848_302-4847dup	NM_001202545.3:c.302-4849_302-4847dup	NM_001202545.3:c.302-4850_302-4847dup
CUX1 transcript variant 7	NM_001202546.1:c.328+1975=	NM_001202546.1:c.328+1987_328+1988del	NM_001202546.1:c.328+1988del	NM_001202546.1:c.328+1988dup	NM_001202546.1:c.328+1987_328+1988dup	NM_001202546.1:c.328+1986_328+1988dup	NM_001202546.1:c.328+1985_328+1988dup
CUX1 transcript variant 7	NM_001202546.3:c.328+1975=	NM_001202546.3:c.328+1987_328+1988del	NM_001202546.3:c.328+1988del	NM_001202546.3:c.328+1988dup	NM_001202546.3:c.328+1987_328+1988dup	NM_001202546.3:c.328+1986_328+1988dup	NM_001202546.3:c.328+1985_328+1988dup
CUX1 transcript variant 2	NM_001913.3:c.439+1975=	NM_001913.3:c.439+1987_439+1988del	NM_001913.3:c.439+1988del	NM_001913.3:c.439+1988dup	NM_001913.3:c.439+1987_439+1988dup	NM_001913.3:c.439+1986_439+1988dup	NM_001913.3:c.439+1985_439+1988dup
CUX1 transcript variant 2	NM_001913.5:c.439+1975=	NM_001913.5:c.439+1987_439+1988del	NM_001913.5:c.439+1988del	NM_001913.5:c.439+1988dup	NM_001913.5:c.439+1987_439+1988dup	NM_001913.5:c.439+1986_439+1988dup	NM_001913.5:c.439+1985_439+1988dup
CUX1 transcript variant 3	NM_181500.2:c.439+1975=	NM_181500.2:c.439+1987_439+1988del	NM_181500.2:c.439+1988del	NM_181500.2:c.439+1988dup	NM_181500.2:c.439+1987_439+1988dup	NM_181500.2:c.439+1986_439+1988dup	NM_181500.2:c.439+1985_439+1988dup
CUX1 transcript variant 3	NM_181500.4:c.439+1975=	NM_181500.4:c.439+1987_439+1988del	NM_181500.4:c.439+1988del	NM_181500.4:c.439+1988dup	NM_181500.4:c.439+1987_439+1988dup	NM_181500.4:c.439+1986_439+1988dup	NM_181500.4:c.439+1985_439+1988dup
CUX1 transcript variant 1	NM_181552.3:c.406+1975=	NM_181552.3:c.406+1987_406+1988del	NM_181552.3:c.406+1988del	NM_181552.3:c.406+1988dup	NM_181552.3:c.406+1987_406+1988dup	NM_181552.3:c.406+1986_406+1988dup	NM_181552.3:c.406+1985_406+1988dup
CUX1 transcript variant 1	NM_181552.4:c.406+1975=	NM_181552.4:c.406+1987_406+1988del	NM_181552.4:c.406+1988del	NM_181552.4:c.406+1988dup	NM_181552.4:c.406+1987_406+1988dup	NM_181552.4:c.406+1986_406+1988dup	NM_181552.4:c.406+1985_406+1988dup
CUX1 transcript variant X1	XM_005250150.1:c.706+1975=	XM_005250150.1:c.706+1987_706+1988del	XM_005250150.1:c.706+1988del	XM_005250150.1:c.706+1988dup	XM_005250150.1:c.706+1987_706+1988dup	XM_005250150.1:c.706+1986_706+1988dup	XM_005250150.1:c.706+1985_706+1988dup
CUX1 transcript variant X1	XM_005250150.4:c.406+1975=	XM_005250150.4:c.406+1987_406+1988del	XM_005250150.4:c.406+1988del	XM_005250150.4:c.406+1988dup	XM_005250150.4:c.406+1987_406+1988dup	XM_005250150.4:c.406+1986_406+1988dup	XM_005250150.4:c.406+1985_406+1988dup
CUX1 transcript variant X2	XM_005250151.1:c.706+1975=	XM_005250151.1:c.706+1987_706+1988del	XM_005250151.1:c.706+1988del	XM_005250151.1:c.706+1988dup	XM_005250151.1:c.706+1987_706+1988dup	XM_005250151.1:c.706+1986_706+1988dup	XM_005250151.1:c.706+1985_706+1988dup
CUX1 transcript variant X3	XM_005250152.1:c.658+1975=	XM_005250152.1:c.658+1987_658+1988del	XM_005250152.1:c.658+1988del	XM_005250152.1:c.658+1988dup	XM_005250152.1:c.658+1987_658+1988dup	XM_005250152.1:c.658+1986_658+1988dup	XM_005250152.1:c.658+1985_658+1988dup
CUX1 transcript variant X4	XM_005250153.1:c.391+1975=	XM_005250153.1:c.391+1987_391+1988del	XM_005250153.1:c.391+1988del	XM_005250153.1:c.391+1988dup	XM_005250153.1:c.391+1987_391+1988dup	XM_005250153.1:c.391+1986_391+1988dup	XM_005250153.1:c.391+1985_391+1988dup
CUX1 transcript variant X5	XM_005250154.1:c.706+1975=	XM_005250154.1:c.706+1987_706+1988del	XM_005250154.1:c.706+1988del	XM_005250154.1:c.706+1988dup	XM_005250154.1:c.706+1987_706+1988dup	XM_005250154.1:c.706+1986_706+1988dup	XM_005250154.1:c.706+1985_706+1988dup
CUX1 transcript variant X18	XM_005250154.4:c.406+1975=	XM_005250154.4:c.406+1987_406+1988del	XM_005250154.4:c.406+1988del	XM_005250154.4:c.406+1988dup	XM_005250154.4:c.406+1987_406+1988dup	XM_005250154.4:c.406+1986_406+1988dup	XM_005250154.4:c.406+1985_406+1988dup
CUX1 transcript variant X6	XM_005250155.1:c.481+1975=	XM_005250155.1:c.481+1987_481+1988del	XM_005250155.1:c.481+1988del	XM_005250155.1:c.481+1988dup	XM_005250155.1:c.481+1987_481+1988dup	XM_005250155.1:c.481+1986_481+1988dup	XM_005250155.1:c.481+1985_481+1988dup
CUX1 transcript variant X4	XM_006715854.3:c.406+1975=	XM_006715854.3:c.406+1987_406+1988del	XM_006715854.3:c.406+1988del	XM_006715854.3:c.406+1988dup	XM_006715854.3:c.406+1987_406+1988dup	XM_006715854.3:c.406+1986_406+1988dup	XM_006715854.3:c.406+1985_406+1988dup
CUX1 transcript variant X13	XM_011515825.3:c.439+1975=	XM_011515825.3:c.439+1987_439+1988del	XM_011515825.3:c.439+1988del	XM_011515825.3:c.439+1988dup	XM_011515825.3:c.439+1987_439+1988dup	XM_011515825.3:c.439+1986_439+1988dup	XM_011515825.3:c.439+1985_439+1988dup
CUX1 transcript variant X12	XM_017011760.3:c.439+1975=	XM_017011760.3:c.439+1987_439+1988del	XM_017011760.3:c.439+1988del	XM_017011760.3:c.439+1988dup	XM_017011760.3:c.439+1987_439+1988dup	XM_017011760.3:c.439+1986_439+1988dup	XM_017011760.3:c.439+1985_439+1988dup
CUX1 transcript variant X8	XM_024446668.2:c.406+1975=	XM_024446668.2:c.406+1987_406+1988del	XM_024446668.2:c.406+1988del	XM_024446668.2:c.406+1988dup	XM_024446668.2:c.406+1987_406+1988dup	XM_024446668.2:c.406+1986_406+1988dup	XM_024446668.2:c.406+1985_406+1988dup
CUX1 transcript variant X2	XM_047419906.1:c.406+1975=	XM_047419906.1:c.406+1987_406+1988del	XM_047419906.1:c.406+1988del	XM_047419906.1:c.406+1988dup	XM_047419906.1:c.406+1987_406+1988dup	XM_047419906.1:c.406+1986_406+1988dup	XM_047419906.1:c.406+1985_406+1988dup
CUX1 transcript variant X3	XM_047419907.1:c.406+1975=	XM_047419907.1:c.406+1987_406+1988del	XM_047419907.1:c.406+1988del	XM_047419907.1:c.406+1988dup	XM_047419907.1:c.406+1987_406+1988dup	XM_047419907.1:c.406+1986_406+1988dup	XM_047419907.1:c.406+1985_406+1988dup
CUX1 transcript variant X5	XM_047419908.1:c.439+1975=	XM_047419908.1:c.439+1987_439+1988del	XM_047419908.1:c.439+1988del	XM_047419908.1:c.439+1988dup	XM_047419908.1:c.439+1987_439+1988dup	XM_047419908.1:c.439+1986_439+1988dup	XM_047419908.1:c.439+1985_439+1988dup
CUX1 transcript variant X6	XM_047419909.1:c.439+1975=	XM_047419909.1:c.439+1987_439+1988del	XM_047419909.1:c.439+1988del	XM_047419909.1:c.439+1988dup	XM_047419909.1:c.439+1987_439+1988dup	XM_047419909.1:c.439+1986_439+1988dup	XM_047419909.1:c.439+1985_439+1988dup
CUX1 transcript variant X7	XM_047419910.1:c.439+1975=	XM_047419910.1:c.439+1987_439+1988del	XM_047419910.1:c.439+1988del	XM_047419910.1:c.439+1988dup	XM_047419910.1:c.439+1987_439+1988dup	XM_047419910.1:c.439+1986_439+1988dup	XM_047419910.1:c.439+1985_439+1988dup
CUX1 transcript variant X9	XM_047419911.1:c.406+1975=	XM_047419911.1:c.406+1987_406+1988del	XM_047419911.1:c.406+1988del	XM_047419911.1:c.406+1988dup	XM_047419911.1:c.406+1987_406+1988dup	XM_047419911.1:c.406+1986_406+1988dup	XM_047419911.1:c.406+1985_406+1988dup
CUX1 transcript variant X10	XM_047419912.1:c.439+1975=	XM_047419912.1:c.439+1987_439+1988del	XM_047419912.1:c.439+1988del	XM_047419912.1:c.439+1988dup	XM_047419912.1:c.439+1987_439+1988dup	XM_047419912.1:c.439+1986_439+1988dup	XM_047419912.1:c.439+1985_439+1988dup
CUX1 transcript variant X11	XM_047419913.1:c.439+1975=	XM_047419913.1:c.439+1987_439+1988del	XM_047419913.1:c.439+1988del	XM_047419913.1:c.439+1988dup	XM_047419913.1:c.439+1987_439+1988dup	XM_047419913.1:c.439+1986_439+1988dup	XM_047419913.1:c.439+1985_439+1988dup
CUX1 transcript variant X14	XM_047419914.1:c.439+1975=	XM_047419914.1:c.439+1987_439+1988del	XM_047419914.1:c.439+1988del	XM_047419914.1:c.439+1988dup	XM_047419914.1:c.439+1987_439+1988dup	XM_047419914.1:c.439+1986_439+1988dup	XM_047419914.1:c.439+1985_439+1988dup
CUX1 transcript variant X15	XM_047419915.1:c.439+1975=	XM_047419915.1:c.439+1987_439+1988del	XM_047419915.1:c.439+1988del	XM_047419915.1:c.439+1988dup	XM_047419915.1:c.439+1987_439+1988dup	XM_047419915.1:c.439+1986_439+1988dup	XM_047419915.1:c.439+1985_439+1988dup
CUX1 transcript variant X16	XM_047419916.1:c.439+1975=	XM_047419916.1:c.439+1987_439+1988del	XM_047419916.1:c.439+1988del	XM_047419916.1:c.439+1988dup	XM_047419916.1:c.439+1987_439+1988dup	XM_047419916.1:c.439+1986_439+1988dup	XM_047419916.1:c.439+1985_439+1988dup
CUX1 transcript variant X17	XM_047419917.1:c.439+1975=	XM_047419917.1:c.439+1987_439+1988del	XM_047419917.1:c.439+1988del	XM_047419917.1:c.439+1988dup	XM_047419917.1:c.439+1987_439+1988dup	XM_047419917.1:c.439+1986_439+1988dup	XM_047419917.1:c.439+1985_439+1988dup

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#.

43 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82089343	Oct 12, 2018 (152)
2	BUSHMAN	ss193937056	Jul 04, 2010 (132)
3	BILGI_BIOE	ss666410148	Apr 25, 2013 (138)
4	1000GENOMES	ss1377458197	Aug 21, 2014 (142)
5	DDI	ss1536557787	Apr 09, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1705756444	Apr 09, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1705756445	Apr 09, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1705756459	Apr 09, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1705756460	Apr 09, 2015 (144)
10	SWEGEN	ss3001739823	Oct 12, 2018 (152)
11	SWEGEN	ss3001739824	Oct 12, 2018 (152)
12	SWEGEN	ss3001739825	Oct 12, 2018 (152)
13	EVA_DECODE	ss3720338168	Jul 13, 2019 (153)
14	EVA_DECODE	ss3720338170	Jul 13, 2019 (153)
15	EVA_DECODE	ss3720338171	Jul 13, 2019 (153)
16	EVA_DECODE	ss3720338172	Jul 13, 2019 (153)
17	EVA_DECODE	ss3720338176	Jul 13, 2019 (153)
18	PACBIO	ss3785910484	Jul 13, 2019 (153)
19	PACBIO	ss3791197084	Jul 13, 2019 (153)
20	PACBIO	ss3796077142	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3810115633	Jul 13, 2019 (153)
22	EVA	ss3830731016	Apr 26, 2020 (154)
23	EVA	ss3844319389	Apr 26, 2020 (154)
24	GNOMAD	ss4169718215	Apr 26, 2021 (155)
25	GNOMAD	ss4169718217	Apr 26, 2021 (155)
26	GNOMAD	ss4169718218	Apr 26, 2021 (155)
27	GNOMAD	ss4169718219	Apr 26, 2021 (155)
28	GNOMAD	ss4169718221	Apr 26, 2021 (155)
29	GNOMAD	ss4169718222	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5184751573	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5184751574	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5184751575	Apr 26, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5274097451	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5274097452	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5471057843	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5471057844	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5471057845	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5725499874	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5725499875	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5725499877	Oct 16, 2022 (156)
41	EVA	ss5823280489	Oct 16, 2022 (156)
42	EVA	ss5823280490	Oct 16, 2022 (156)
43	EVA	ss5860156554	Oct 16, 2022 (156)
44	1000Genomes	NC_000007.13 - 101742756	Oct 12, 2018 (152)
45	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 21377120 (NC_000007.13:101742755::TT 900/3854) Row 21377121 (NC_000007.13:101742755::T 1032/3854)	-	Oct 12, 2018 (152)
46	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 21377120 (NC_000007.13:101742755::TT 900/3854) Row 21377121 (NC_000007.13:101742755::T 1032/3854)	-	Oct 12, 2018 (152)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271171122 (NC_000007.14:102099475::T 35632/131182) Row 271171124 (NC_000007.14:102099475::TT 30161/131140) Row 271171125 (NC_000007.14:102099475::TTT 65/131294)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271171122 (NC_000007.14:102099475::T 35632/131182) Row 271171124 (NC_000007.14:102099475::TT 30161/131140) Row 271171125 (NC_000007.14:102099475::TTT 65/131294)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271171122 (NC_000007.14:102099475::T 35632/131182) Row 271171124 (NC_000007.14:102099475::TT 30161/131140) Row 271171125 (NC_000007.14:102099475::TTT 65/131294)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271171122 (NC_000007.14:102099475::T 35632/131182) Row 271171124 (NC_000007.14:102099475::TT 30161/131140) Row 271171125 (NC_000007.14:102099475::TTT 65/131294)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271171122 (NC_000007.14:102099475::T 35632/131182) Row 271171124 (NC_000007.14:102099475::TT 30161/131140) Row 271171125 (NC_000007.14:102099475::TTT 65/131294)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271171122 (NC_000007.14:102099475::T 35632/131182) Row 271171124 (NC_000007.14:102099475::TT 30161/131140) Row 271171125 (NC_000007.14:102099475::TTT 65/131294)...	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 42720880 (NC_000007.13:101742755::TT 498/16758) Row 42720881 (NC_000007.13:101742755:T: 232/16758) Row 42720882 (NC_000007.13:101742755::T 20/16758)	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 42720880 (NC_000007.13:101742755::TT 498/16758) Row 42720881 (NC_000007.13:101742755:T: 232/16758) Row 42720882 (NC_000007.13:101742755::T 20/16758)	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 42720880 (NC_000007.13:101742755::TT 498/16758) Row 42720881 (NC_000007.13:101742755:T: 232/16758) Row 42720882 (NC_000007.13:101742755::T 20/16758)	-	Apr 26, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 59336978 (NC_000007.14:102099475::TT 818/28254) Row 59336979 (NC_000007.14:102099475:T: 379/28254) Row 59336981 (NC_000007.14:102099475::T 33/28254)	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 59336978 (NC_000007.14:102099475::TT 818/28254) Row 59336979 (NC_000007.14:102099475:T: 379/28254) Row 59336981 (NC_000007.14:102099475::T 33/28254)	-	Oct 16, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 59336978 (NC_000007.14:102099475::TT 818/28254) Row 59336979 (NC_000007.14:102099475:T: 379/28254) Row 59336981 (NC_000007.14:102099475::T 33/28254)	-	Oct 16, 2022 (156)
59	UK 10K study - Twins Submission ignored due to conflicting rows: Row 21377120 (NC_000007.13:101742755::TT 897/3708) Row 21377121 (NC_000007.13:101742755::T 1005/3708)	-	Oct 12, 2018 (152)
60	UK 10K study - Twins Submission ignored due to conflicting rows: Row 21377120 (NC_000007.13:101742755::TT 897/3708) Row 21377121 (NC_000007.13:101742755::T 1005/3708)	-	Oct 12, 2018 (152)
61	ALFA	NC_000007.14 - 102099476	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
ss4169718222	NC_000007.14:102099475:TT:	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
6658099567	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5184751574	NC_000007.13:101742755:T:	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3720338168, ss4169718221, ss5725499875	NC_000007.14:102099475:T:	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
6658099567	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
38423247, ss1377458197, ss1705756445, ss1705756460, ss3001739823, ss3785910484, ss3791197084, ss3796077142, ss5184751575, ss5823280490	NC_000007.13:101742755::T	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3810115633, ss4169718215, ss5274097451, ss5471057843, ss5725499877	NC_000007.14:102099475::T	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6658099567	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3720338170	NC_000007.14:102099476::T	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3720338176	NC_000007.14:102099489::T	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss193937056	NT_007933.16:39592696::T	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss666410148, ss1536557787, ss1705756444, ss1705756459, ss3001739824, ss3830731016, ss5184751573, ss5823280489	NC_000007.13:101742755::TT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3844319389, ss4169718217, ss5274097452, ss5471057844, ss5725499874, ss5860156554	NC_000007.14:102099475::TT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
6658099567	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3720338171	NC_000007.14:102099476::TT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss82089343	NT_007933.15:39775612::TT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3001739825	NC_000007.13:101742755::TTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4169718218, ss5471057845	NC_000007.14:102099475::TTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
6658099567	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3720338172	NC_000007.14:102099476::TTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4169718219	NC_000007.14:102099475::TTTT	NC_000007.14:102099475:TTTTTTTTTTT… NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(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 rs111487536

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
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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

rs111487536