Name: rs1491541902
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.

rs1491541902

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:102239421-102239425 (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: dupCCA
Variation Type: Indel Insertion and Deletion
Frequency: dupCCA=0.000106 (28/264690, TOPMED)
dupCCA=0.000036 (9/250072, GnomAD_exome)
dupCCA=0.000121 (17/140308, GnomAD) (+ 3 more)
dupCCA=0.000059 (7/119620, ExAC)
dupCCA=0.00013 (3/23038, ALFA)
dupCCA=0.00032 (4/12512, GO-ESP)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CUX1 : Inframe Insertion
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	HTRZ	HWEP
Total	Global	23038	CACCA=0.99987	CACCACCA=0.00013	0.99974	0.00026	0
European	Sub	15752	CACCA=1.00000	CACCACCA=0.00000	1.0	0.0	N/A
African	Sub	3492	CACCA=0.9991	CACCACCA=0.0009	0.998282	0.001718	0
African Others	Sub	122	CACCA=1.000	CACCACCA=0.000	1.0	0.0	N/A
African American	Sub	3370	CACCA=0.9991	CACCACCA=0.0009	0.99822	0.00178	0
Asian	Sub	168	CACCA=1.000	CACCACCA=0.000	1.0	0.0	N/A
East Asian	Sub	112	CACCA=1.000	CACCACCA=0.000	1.0	0.0	N/A
Other Asian	Sub	56	CACCA=1.00	CACCACCA=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	CACCA=1.000	CACCACCA=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	CACCA=1.000	CACCACCA=0.000	1.0	0.0	N/A
South Asian	Sub	98	CACCA=1.00	CACCACCA=0.00	1.0	0.0	N/A
Other	Sub	2772	CACCA=1.0000	CACCACCA=0.0000	1.0	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
TopMed	Global	Study-wide	264690	- No frequency provided	dupCCA=0.000106
gnomAD - Exomes	Global	Study-wide	250072	- No frequency provided	dupCCA=0.000036
gnomAD - Exomes	European	Sub	134310	- No frequency provided	dupCCA=0.000000
gnomAD - Exomes	Asian	Sub	48960	- No frequency provided	dupCCA=0.00000
gnomAD - Exomes	American	Sub	34558	- No frequency provided	dupCCA=0.00000
gnomAD - Exomes	African	Sub	16100	- No frequency provided	dupCCA=0.00056
gnomAD - Exomes	Ashkenazi Jewish	Sub	10024	- No frequency provided	dupCCA=0.00000
gnomAD - Exomes	Other	Sub	6120	- No frequency provided	dupCCA=0.0000
gnomAD - Genomes	Global	Study-wide	140308	- No frequency provided	dupCCA=0.000121
gnomAD - Genomes	European	Sub	75964	- No frequency provided	dupCCA=0.00000
gnomAD - Genomes	African	Sub	42072	- No frequency provided	dupCCA=0.00040
gnomAD - Genomes	American	Sub	13660	- No frequency provided	dupCCA=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	- No frequency provided	dupCCA=0.0000
gnomAD - Genomes	East Asian	Sub	3134	- No frequency provided	dupCCA=0.0000
gnomAD - Genomes	Other	Sub	2154	- No frequency provided	dupCCA=0.0000
ExAC	Global	Study-wide	119620	- No frequency provided	dupCCA=0.000059
ExAC	Europe	Sub	72038	- No frequency provided	dupCCA=0.00000
ExAC	Asian	Sub	25068	- No frequency provided	dupCCA=0.00000
ExAC	American	Sub	11516	- No frequency provided	dupCCA=0.00000
ExAC	African	Sub	10102	- No frequency provided	dupCCA=0.00069
ExAC	Other	Sub	896	- No frequency provided	dupCCA=0.000
Allele Frequency Aggregator	Total	Global	23038	CACCA=0.99987	dupCCA=0.00013
Allele Frequency Aggregator	European	Sub	15752	CACCA=1.00000	dupCCA=0.00000
Allele Frequency Aggregator	African	Sub	3492	CACCA=0.9991	dupCCA=0.0009
Allele Frequency Aggregator	Other	Sub	2772	CACCA=1.0000	dupCCA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	CACCA=1.000	dupCCA=0.000
Allele Frequency Aggregator	Asian	Sub	168	CACCA=1.000	dupCCA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	CACCA=1.000	dupCCA=0.000
Allele Frequency Aggregator	South Asian	Sub	98	CACCA=1.00	dupCCA=0.00
GO Exome Sequencing Project	Global	Study-wide	12512	- No frequency provided	dupCCA=0.00032
GO Exome Sequencing Project	European American	Sub	8252	- No frequency provided	dupCCA=0.0001
GO Exome Sequencing Project	African American	Sub	4260	- No frequency provided	dupCCA=0.0007

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.102239423_102239425dup
GRCh37.p13 chr 7	NC_000007.13:g.101882703_101882705dup
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.428520_428522dup
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.163753_163755dup

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

Molecule type	Change	Amino acid[Codon]	SO Term
CUX1 transcript variant 5	NM_001202544.3:c.1208-339… NM_001202544.3:c.1208-33943_1208-33941dup	N/A	Intron Variant
CUX1 transcript variant 6	NM_001202545.3:c.1118-339… NM_001202545.3:c.1118-33943_1118-33941dup	N/A	Intron Variant
CUX1 transcript variant 7	NM_001202546.3:c.1139-339… NM_001202546.3:c.1139-33943_1139-33941dup	N/A	Intron Variant
CUX1 transcript variant 2	NM_001913.5:c.1256-33943_… NM_001913.5:c.1256-33943_1256-33941dup	N/A	Intron Variant
CUX1 transcript variant 3	NM_181500.4:c.1250-33943_… NM_181500.4:c.1250-33943_1250-33941dup	N/A	Intron Variant
CUX1 transcript variant 1	NM_181552.4:c.3726_3728dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform a	NP_853530.2:p.His1242dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant 4	NM_001202543.2:c.3759_376… NM_001202543.2:c.3759_3761dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform d	NP_001189472.1:p.His1253d… NP_001189472.1:p.His1253dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X18	XM_005250154.4:c.1223-339… XM_005250154.4:c.1223-33943_1223-33941dup	N/A	Intron Variant
CUX1 transcript variant X1	XM_005250150.4:c.3723_372… XM_005250150.4:c.3723_3725dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X1	XP_005250207.2:p.His1241d… XP_005250207.2:p.His1241dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X2	XM_047419906.1:c.3720_372… XM_047419906.1:c.3720_3722dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X2	XP_047275862.1:p.His1240d… XP_047275862.1:p.His1240dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X3	XM_047419907.1:c.3717_371… XM_047419907.1:c.3717_3719dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X3	XP_047275863.1:p.His1239d… XP_047275863.1:p.His1239dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X4	XM_006715854.3:c.3660_366… XM_006715854.3:c.3660_3662dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X4	XP_006715917.2:p.His1220d… XP_006715917.2:p.His1220dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X5	XM_047419908.1:c.3756_375… XM_047419908.1:c.3756_3758dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X5	XP_047275864.1:p.His1252d… XP_047275864.1:p.His1252dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X6	XM_047419909.1:c.3753_375… XM_047419909.1:c.3753_3755dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X6	XP_047275865.1:p.His1251d… XP_047275865.1:p.His1251dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X7	XM_047419910.1:c.3750_375… XM_047419910.1:c.3750_3752dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X7	XP_047275866.1:p.His1250d… XP_047275866.1:p.His1250dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X8	XM_024446668.2:c.3414_341… XM_024446668.2:c.3414_3416dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X8	XP_024302436.2:p.His1138d… XP_024302436.2:p.His1138dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X9	XM_047419911.1:c.3411_341… XM_047419911.1:c.3411_3413dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X9	XP_047275867.1:p.His1137d… XP_047275867.1:p.His1137dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X10	XM_047419912.1:c.3693_369… XM_047419912.1:c.3693_3695dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X10	XP_047275868.1:p.His1231d… XP_047275868.1:p.His1231dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X11	XM_047419913.1:c.3690_369… XM_047419913.1:c.3690_3692dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X11	XP_047275869.1:p.His1230d… XP_047275869.1:p.His1230dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X12	XM_017011760.3:c.3687_368… XM_017011760.3:c.3687_3689dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X12	XP_016867249.1:p.His1229d… XP_016867249.1:p.His1229dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X13	XM_011515825.3:c.3453_345… XM_011515825.3:c.3453_3455dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X13	XP_011514127.1:p.His1151d… XP_011514127.1:p.His1151dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X14	XM_047419914.1:c.3450_345… XM_047419914.1:c.3450_3452dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X14	XP_047275870.1:p.His1150d… XP_047275870.1:p.His1150dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X15	XM_047419915.1:c.3447_344… XM_047419915.1:c.3447_3449dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X15	XP_047275871.1:p.His1149d… XP_047275871.1:p.His1149dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X16	XM_047419916.1:c.3387_338… XM_047419916.1:c.3387_3389dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X16	XP_047275872.1:p.His1129d… XP_047275872.1:p.His1129dup	H (His) > HH (HisHis)	Inframe Insertion
CUX1 transcript variant X17	XM_047419917.1:c.3384_338… XM_047419917.1:c.3384_3386dup	H [CAG] > HH [CACCAG]	Coding Sequence Variant
Homeobox protein cut-like 1 isoform X17	XP_047275873.1:p.His1128d… XP_047275873.1:p.His1128dup	H (His) > HH (HisHis)	Inframe Insertion

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	CACCA=	dupCCA
GRCh38.p14 chr 7	NC_000007.14:g.102239421_102239425=	NC_000007.14:g.102239423_102239425dup
GRCh37.p13 chr 7	NC_000007.13:g.101882701_101882705=	NC_000007.13:g.101882703_101882705dup
CUX1 RefSeqGene (LRG_1123)	NG_029476.2:g.428518_428522=	NG_029476.2:g.428520_428522dup
CUX1 transcript variant 1	NM_181552.4:c.3724_3728=	NM_181552.4:c.3726_3728dup
CUX1 transcript variant 1	NM_181552.3:c.3724_3728=	NM_181552.3:c.3726_3728dup
CUX1 transcript variant 4	NM_001202543.2:c.3757_3761=	NM_001202543.2:c.3759_3761dup
CUX1 transcript variant 4	NM_001202543.1:c.3757_3761=	NM_001202543.1:c.3759_3761dup
GRCh37.p13 chr 7 fix patch HG115_PATCH	NW_003571037.1:g.163751_163755=	NW_003571037.1:g.163753_163755dup
CUX1 transcript variant X1	XM_005250150.4:c.3721_3725=	XM_005250150.4:c.3723_3725dup
CUX1 transcript variant X1	XM_005250150.3:c.4021_4025=	XM_005250150.3:c.4023_4025dup
CUX1 transcript variant X1	XM_005250150.2:c.4021_4025=	XM_005250150.2:c.4023_4025dup
CUX1 transcript variant X1	XM_005250150.1:c.4021_4025=	XM_005250150.1:c.4023_4025dup
CUX1 transcript variant X12	XM_017011760.3:c.3685_3689=	XM_017011760.3:c.3687_3689dup
CUX1 transcript variant X4	XM_017011760.2:c.3685_3689=	XM_017011760.2:c.3687_3689dup
CUX1 transcript variant X6	XM_017011760.1:c.3685_3689=	XM_017011760.1:c.3687_3689dup
CUX1 transcript variant X4	XM_006715854.3:c.3658_3662=	XM_006715854.3:c.3660_3662dup
CUX1 transcript variant X2	XM_006715854.2:c.3958_3962=	XM_006715854.2:c.3960_3962dup
CUX1 transcript variant X3	XM_006715854.1:c.3958_3962=	XM_006715854.1:c.3960_3962dup
CUX1 transcript variant X13	XM_011515825.3:c.3451_3455=	XM_011515825.3:c.3453_3455dup
CUX1 transcript variant X5	XM_011515825.2:c.3451_3455=	XM_011515825.2:c.3453_3455dup
CUX1 transcript variant X7	XM_011515825.1:c.3451_3455=	XM_011515825.1:c.3453_3455dup
CUX1 transcript variant X8	XM_024446668.2:c.3412_3416=	XM_024446668.2:c.3414_3416dup
CUX1 transcript variant X3	XM_024446668.1:c.3712_3716=	XM_024446668.1:c.3714_3716dup
CUX1 transcript variant X5	XM_047419908.1:c.3754_3758=	XM_047419908.1:c.3756_3758dup
CUX1 transcript variant X6	XM_047419909.1:c.3751_3755=	XM_047419909.1:c.3753_3755dup
CUX1 transcript variant X7	XM_047419910.1:c.3748_3752=	XM_047419910.1:c.3750_3752dup
CUX1 transcript variant X2	XM_047419906.1:c.3718_3722=	XM_047419906.1:c.3720_3722dup
CUX1 transcript variant X3	XM_047419907.1:c.3715_3719=	XM_047419907.1:c.3717_3719dup
CUX1 transcript variant X10	XM_047419912.1:c.3691_3695=	XM_047419912.1:c.3693_3695dup
CUX1 transcript variant X11	XM_047419913.1:c.3688_3692=	XM_047419913.1:c.3690_3692dup
CUX1 transcript variant X14	XM_047419914.1:c.3448_3452=	XM_047419914.1:c.3450_3452dup
CUX1 transcript variant X15	XM_047419915.1:c.3445_3449=	XM_047419915.1:c.3447_3449dup
CUX1 transcript variant X9	XM_047419911.1:c.3409_3413=	XM_047419911.1:c.3411_3413dup
CUX1 transcript variant X16	XM_047419916.1:c.3385_3389=	XM_047419916.1:c.3387_3389dup
CUX1 transcript variant X17	XM_047419917.1:c.3382_3386=	XM_047419917.1:c.3384_3386dup
Homeobox protein cut-like 1 isoform a	NP_853530.2:p.His1242_Gln1243=	NP_853530.2:p.His1242dup
Homeobox protein cut-like 1 isoform d	NP_001189472.1:p.His1253_Gln1254=	NP_001189472.1:p.His1253dup
Homeobox protein cut-like 1 isoform X1	XP_005250207.2:p.His1241_Gln1242=	XP_005250207.2:p.His1241dup
Homeobox protein cut-like 1 isoform X12	XP_016867249.1:p.His1229_Gln1230=	XP_016867249.1:p.His1229dup
Homeobox protein cut-like 1 isoform X4	XP_006715917.2:p.His1220_Gln1221=	XP_006715917.2:p.His1220dup
Homeobox protein cut-like 1 isoform X13	XP_011514127.1:p.His1151_Gln1152=	XP_011514127.1:p.His1151dup
Homeobox protein cut-like 1 isoform X8	XP_024302436.2:p.His1138_Gln1139=	XP_024302436.2:p.His1138dup
Homeobox protein cut-like 1 isoform X5	XP_047275864.1:p.His1252_Gln1253=	XP_047275864.1:p.His1252dup
Homeobox protein cut-like 1 isoform X6	XP_047275865.1:p.His1251_Gln1252=	XP_047275865.1:p.His1251dup
Homeobox protein cut-like 1 isoform X7	XP_047275866.1:p.His1250_Gln1251=	XP_047275866.1:p.His1250dup
Homeobox protein cut-like 1 isoform X2	XP_047275862.1:p.His1240_Gln1241=	XP_047275862.1:p.His1240dup
Homeobox protein cut-like 1 isoform X3	XP_047275863.1:p.His1239_Gln1240=	XP_047275863.1:p.His1239dup
Homeobox protein cut-like 1 isoform X10	XP_047275868.1:p.His1231_Gln1232=	XP_047275868.1:p.His1231dup
Homeobox protein cut-like 1 isoform X11	XP_047275869.1:p.His1230_Gln1231=	XP_047275869.1:p.His1230dup
Homeobox protein cut-like 1 isoform X14	XP_047275870.1:p.His1150_Gln1151=	XP_047275870.1:p.His1150dup
Homeobox protein cut-like 1 isoform X15	XP_047275871.1:p.His1149_Gln1150=	XP_047275871.1:p.His1149dup
Homeobox protein cut-like 1 isoform X9	XP_047275867.1:p.His1137_Gln1138=	XP_047275867.1:p.His1137dup
Homeobox protein cut-like 1 isoform X16	XP_047275872.1:p.His1129_Gln1130=	XP_047275872.1:p.His1129dup
Homeobox protein cut-like 1 isoform X17	XP_047275873.1:p.His1128_Gln1129=	XP_047275873.1:p.His1128dup
CUX1 transcript variant 5	NM_001202544.1:c.1208-33936=	NM_001202544.1:c.1208-33934_1208-33932dup
CUX1 transcript variant 5	NM_001202544.3:c.1208-33945=	NM_001202544.3:c.1208-33943_1208-33941dup
CUX1 transcript variant 6	NM_001202545.1:c.1118-33936=	NM_001202545.1:c.1118-33934_1118-33932dup
CUX1 transcript variant 6	NM_001202545.3:c.1118-33945=	NM_001202545.3:c.1118-33943_1118-33941dup
CUX1 transcript variant 7	NM_001202546.1:c.1139-33936=	NM_001202546.1:c.1139-33934_1139-33932dup
CUX1 transcript variant 7	NM_001202546.3:c.1139-33945=	NM_001202546.3:c.1139-33943_1139-33941dup
CUX1 transcript variant 2	NM_001913.3:c.1256-33936=	NM_001913.3:c.1256-33934_1256-33932dup
CUX1 transcript variant 2	NM_001913.5:c.1256-33945=	NM_001913.5:c.1256-33943_1256-33941dup
CUX1 transcript variant 3	NM_181500.2:c.1250-33936=	NM_181500.2:c.1250-33934_1250-33932dup
CUX1 transcript variant 3	NM_181500.4:c.1250-33945=	NM_181500.4:c.1250-33943_1250-33941dup
CUX1 transcript variant X5	XM_005250154.1:c.1523-33936=	XM_005250154.1:c.1523-33934_1523-33932dup
CUX1 transcript variant X18	XM_005250154.4:c.1223-33945=	XM_005250154.4:c.1223-33943_1223-33941dup
CUX1 transcript variant X6	XM_005250155.1:c.1298-33936=	XM_005250155.1:c.1298-33934_1298-33932dup
Homeobox protein cut-like 1 isoform X1	XP_005250207.1:p.His1341_Gln1342=	XP_005250207.1:p.His1341dup

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#.

5 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_EXAC	ss1711865736	Oct 12, 2018 (152)
2	GNOMAD	ss2736660279	Oct 12, 2018 (152)
3	EVA	ss3824304326	Apr 26, 2020 (154)
4	GNOMAD	ss4169749509	Apr 26, 2021 (155)
5	TOPMED	ss4757194064	Apr 26, 2021 (155)
6	ExAC	NC_000007.13 - 101882701	Oct 12, 2018 (152)
7	gnomAD - Genomes	NC_000007.14 - 102239421	Apr 26, 2021 (155)
8	gnomAD - Exomes	NC_000007.13 - 101882701	Jul 13, 2019 (153)
9	GO Exome Sequencing Project	NC_000007.13 - 101882701	Oct 12, 2018 (152)
10	TopMed	NC_000007.14 - 102239421	Apr 26, 2021 (155)
11	ALFA	NC_000007.14 - 102239421	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
8957606, 5823622, 762268, ss1711865736, ss2736660279, ss3824304326	NC_000007.13:101882700::CAC	NC_000007.14:102239420:CACCA:CACCA… NC_000007.14:102239420:CACCA:CACCACCA	(self)
271202486, 594571623, ss4169749509, ss4757194064	NC_000007.14:102239420::CAC	NC_000007.14:102239420:CACCA:CACCA… NC_000007.14:102239420:CACCA:CACCACCA	(self)
8122338373	NC_000007.14:102239420:CACCA:CACCA… NC_000007.14:102239420:CACCA:CACCACCA	NC_000007.14:102239420:CACCA:CACCA… NC_000007.14:102239420:CACCA:CACCACCA	(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 rs1491541902

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

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491541902