Name: rs530299102
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.

rs530299102

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:206638576-206638589 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.01205 (214/17756, ALFA)
dupT=0.028 (17/600, NorthernSweden)
dupT=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DYRK3 : 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	17756	TTTTTTTTTTTTTT=0.98772	TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00023, TTTTTTTTTTTTTTT=0.01205, TTTTTTTTTTTTTTTT=0.00000	0.976448	0.000563	0.022989	6
European	Sub	13636	TTTTTTTTTTTTTT=0.98409	TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00029, TTTTTTTTTTTTTTT=0.01562, TTTTTTTTTTTTTTTT=0.00000	0.969475	0.000734	0.029792	4
African	Sub	2822	TTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	114	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2708	TTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	106	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	80	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	142	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	538	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	46	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	466	TTTTTTTTTTTTTT=0.998	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.002, TTTTTTTTTTTTTTTT=0.000	0.995708	0.0	0.004292	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	17756	(T)₁₄=0.98772	delTTT=0.00000, delTT=0.00000, delT=0.00023, dupT=0.01205, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	13636	(T)₁₄=0.98409	delTTT=0.00000, delTT=0.00000, delT=0.00029, dupT=0.01562, dupTT=0.00000
Allele Frequency Aggregator	African	Sub	2822	(T)₁₄=1.0000	delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	538	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	466	(T)₁₄=0.998	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.002, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	142	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	106	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	South Asian	Sub	46	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupT=0.028
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.07

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 1	NC_000001.11:g.206638587_206638589del
GRCh38.p14 chr 1	NC_000001.11:g.206638588_206638589del
GRCh38.p14 chr 1	NC_000001.11:g.206638589del
GRCh38.p14 chr 1	NC_000001.11:g.206638589dup
GRCh38.p14 chr 1	NC_000001.11:g.206638588_206638589dup
GRCh37.p13 chr 1	NC_000001.10:g.206811932_206811934del
GRCh37.p13 chr 1	NC_000001.10:g.206811933_206811934del
GRCh37.p13 chr 1	NC_000001.10:g.206811934del
GRCh37.p13 chr 1	NC_000001.10:g.206811934dup
GRCh37.p13 chr 1	NC_000001.10:g.206811933_206811934dup
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.629441_629443del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.629442_629443del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.629443del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.629443dup
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.629442_629443dup

Gene: DYRK3, dual specificity tyrosine phosphorylation regulated kinase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DYRK3 transcript variant 2	NM_001004023.3:c.129+826_… NM_001004023.3:c.129+826_129+828del	N/A	Intron Variant
DYRK3 transcript variant 1	NM_003582.4:c.189+826_189… NM_003582.4:c.189+826_189+828del	N/A	Intron Variant
DYRK3 transcript variant X1	XM_005273315.5:c.129+826_… XM_005273315.5:c.129+826_129+828del	N/A	Intron Variant
DYRK3 transcript variant X4	XM_011510061.3:c.84+826_8… XM_011510061.3:c.84+826_84+828del	N/A	Intron Variant
DYRK3 transcript variant X2	XM_047432114.1:c.129+826_… XM_047432114.1:c.129+826_129+828del	N/A	Intron Variant
DYRK3 transcript variant X3	XM_047432115.1:c.129+826_… XM_047432115.1:c.129+826_129+828del	N/A	Intron Variant
DYRK3 transcript variant X5	XM_047432118.1:c.84+826_8… XM_047432118.1:c.84+826_84+828del	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=	delTTT	delTT	delT	dupT	dupTT
GRCh38.p14 chr 1	NC_000001.11:g.206638576_206638589=	NC_000001.11:g.206638587_206638589del	NC_000001.11:g.206638588_206638589del	NC_000001.11:g.206638589del	NC_000001.11:g.206638589dup	NC_000001.11:g.206638588_206638589dup
GRCh37.p13 chr 1	NC_000001.10:g.206811921_206811934=	NC_000001.10:g.206811932_206811934del	NC_000001.10:g.206811933_206811934del	NC_000001.10:g.206811934del	NC_000001.10:g.206811934dup	NC_000001.10:g.206811933_206811934dup
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.629430_629443=	NW_003871057.1:g.629441_629443del	NW_003871057.1:g.629442_629443del	NW_003871057.1:g.629443del	NW_003871057.1:g.629443dup	NW_003871057.1:g.629442_629443dup
DYRK3 transcript variant 2	NM_001004023.1:c.129+815=	NM_001004023.1:c.129+826_129+828del	NM_001004023.1:c.129+827_129+828del	NM_001004023.1:c.129+828del	NM_001004023.1:c.129+828dup	NM_001004023.1:c.129+827_129+828dup
DYRK3 transcript variant 2	NM_001004023.3:c.129+815=	NM_001004023.3:c.129+826_129+828del	NM_001004023.3:c.129+827_129+828del	NM_001004023.3:c.129+828del	NM_001004023.3:c.129+828dup	NM_001004023.3:c.129+827_129+828dup
DYRK3 transcript variant 1	NM_003582.2:c.189+815=	NM_003582.2:c.189+826_189+828del	NM_003582.2:c.189+827_189+828del	NM_003582.2:c.189+828del	NM_003582.2:c.189+828dup	NM_003582.2:c.189+827_189+828dup
DYRK3 transcript variant 1	NM_003582.4:c.189+815=	NM_003582.4:c.189+826_189+828del	NM_003582.4:c.189+827_189+828del	NM_003582.4:c.189+828del	NM_003582.4:c.189+828dup	NM_003582.4:c.189+827_189+828dup
DYRK3 transcript variant X1	XM_005273315.1:c.129+815=	XM_005273315.1:c.129+826_129+828del	XM_005273315.1:c.129+827_129+828del	XM_005273315.1:c.129+828del	XM_005273315.1:c.129+828dup	XM_005273315.1:c.129+827_129+828dup
DYRK3 transcript variant X1	XM_005273315.5:c.129+815=	XM_005273315.5:c.129+826_129+828del	XM_005273315.5:c.129+827_129+828del	XM_005273315.5:c.129+828del	XM_005273315.5:c.129+828dup	XM_005273315.5:c.129+827_129+828dup
DYRK3 transcript variant X2	XM_005273316.1:c.129+815=	XM_005273316.1:c.129+826_129+828del	XM_005273316.1:c.129+827_129+828del	XM_005273316.1:c.129+828del	XM_005273316.1:c.129+828dup	XM_005273316.1:c.129+827_129+828dup
DYRK3 transcript variant X1	XM_005277518.1:c.129+815=	XM_005277518.1:c.129+826_129+828del	XM_005277518.1:c.129+827_129+828del	XM_005277518.1:c.129+828del	XM_005277518.1:c.129+828dup	XM_005277518.1:c.129+827_129+828dup
DYRK3 transcript variant X2	XM_005277519.1:c.129+815=	XM_005277519.1:c.129+826_129+828del	XM_005277519.1:c.129+827_129+828del	XM_005277519.1:c.129+828del	XM_005277519.1:c.129+828dup	XM_005277519.1:c.129+827_129+828dup
DYRK3 transcript variant X4	XM_011510061.3:c.84+815=	XM_011510061.3:c.84+826_84+828del	XM_011510061.3:c.84+827_84+828del	XM_011510061.3:c.84+828del	XM_011510061.3:c.84+828dup	XM_011510061.3:c.84+827_84+828dup
DYRK3 transcript variant X2	XM_047432114.1:c.129+815=	XM_047432114.1:c.129+826_129+828del	XM_047432114.1:c.129+827_129+828del	XM_047432114.1:c.129+828del	XM_047432114.1:c.129+828dup	XM_047432114.1:c.129+827_129+828dup
DYRK3 transcript variant X3	XM_047432115.1:c.129+815=	XM_047432115.1:c.129+826_129+828del	XM_047432115.1:c.129+827_129+828del	XM_047432115.1:c.129+828del	XM_047432115.1:c.129+828dup	XM_047432115.1:c.129+827_129+828dup
DYRK3 transcript variant X5	XM_047432118.1:c.84+815=	XM_047432118.1:c.84+826_84+828del	XM_047432118.1:c.84+827_84+828del	XM_047432118.1:c.84+828del	XM_047432118.1:c.84+828dup	XM_047432118.1:c.84+827_84+828dup

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#.

21 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947038323	Aug 21, 2014 (142)
2	EVA_GENOME_DK	ss1574084414	Apr 09, 2015 (144)
3	SWEGEN	ss2988335084	Oct 11, 2018 (152)
4	ACPOP	ss3727799873	Jul 12, 2019 (153)
5	PACBIO	ss3783669104	Jul 12, 2019 (153)
6	PACBIO	ss3789284409	Jul 12, 2019 (153)
7	PACBIO	ss3794156675	Jul 12, 2019 (153)
8	EVA	ss3826607498	Apr 25, 2020 (154)
9	GNOMAD	ss4010081590	Apr 25, 2021 (155)
10	GNOMAD	ss4010081591	Apr 25, 2021 (155)
11	GNOMAD	ss4010081592	Apr 25, 2021 (155)
12	GNOMAD	ss4010081593	Apr 25, 2021 (155)
13	TOMMO_GENOMICS	ss5148116719	Apr 25, 2021 (155)
14	TOMMO_GENOMICS	ss5148116720	Apr 25, 2021 (155)
15	TOMMO_GENOMICS	ss5148116721	Apr 25, 2021 (155)
16	1000G_HIGH_COVERAGE	ss5245553170	Oct 12, 2022 (156)
17	1000G_HIGH_COVERAGE	ss5245553171	Oct 12, 2022 (156)
18	HUGCELL_USP	ss5446012834	Oct 12, 2022 (156)
19	HUGCELL_USP	ss5446012835	Oct 12, 2022 (156)
20	TOMMO_GENOMICS	ss5675787962	Oct 12, 2022 (156)
21	TOMMO_GENOMICS	ss5675787963	Oct 12, 2022 (156)
22	The Danish reference pan genome	NC_000001.10 - 206811921	Apr 25, 2020 (154)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556253 (NC_000001.11:206638575::T 4142/129650) Row 37556254 (NC_000001.11:206638575::TT 4/129662) Row 37556255 (NC_000001.11:206638575:T: 846/129326)...	-	Apr 25, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556253 (NC_000001.11:206638575::T 4142/129650) Row 37556254 (NC_000001.11:206638575::TT 4/129662) Row 37556255 (NC_000001.11:206638575:T: 846/129326)...	-	Apr 25, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556253 (NC_000001.11:206638575::T 4142/129650) Row 37556254 (NC_000001.11:206638575::TT 4/129662) Row 37556255 (NC_000001.11:206638575:T: 846/129326)...	-	Apr 25, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556253 (NC_000001.11:206638575::T 4142/129650) Row 37556254 (NC_000001.11:206638575::TT 4/129662) Row 37556255 (NC_000001.11:206638575:T: 846/129326)...	-	Apr 25, 2021 (155)
27	Northern Sweden	NC_000001.10 - 206811921	Jul 12, 2019 (153)
28	8.3KJPN Submission ignored due to conflicting rows: Row 6086026 (NC_000001.10:206811920::T 1194/16748) Row 6086027 (NC_000001.10:206811920:T: 45/16748) Row 6086028 (NC_000001.10:206811920::TT 1/16748)	-	Apr 25, 2021 (155)
29	8.3KJPN Submission ignored due to conflicting rows: Row 6086026 (NC_000001.10:206811920::T 1194/16748) Row 6086027 (NC_000001.10:206811920:T: 45/16748) Row 6086028 (NC_000001.10:206811920::TT 1/16748)	-	Apr 25, 2021 (155)
30	8.3KJPN Submission ignored due to conflicting rows: Row 6086026 (NC_000001.10:206811920::T 1194/16748) Row 6086027 (NC_000001.10:206811920:T: 45/16748) Row 6086028 (NC_000001.10:206811920::TT 1/16748)	-	Apr 25, 2021 (155)
31	14KJPN Submission ignored due to conflicting rows: Row 9625066 (NC_000001.11:206638575::T 2044/28256) Row 9625067 (NC_000001.11:206638575:T: 52/28256)	-	Oct 12, 2022 (156)
32	14KJPN Submission ignored due to conflicting rows: Row 9625066 (NC_000001.11:206638575::T 2044/28256) Row 9625067 (NC_000001.11:206638575:T: 52/28256)	-	Oct 12, 2022 (156)
33	ALFA	NC_000001.11 - 206638576	Apr 25, 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
8895711386	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4010081593	NC_000001.11:206638575:TT:	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
8895711386	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss2988335084, ss3826607498, ss5148116720	NC_000001.10:206811920:T:	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4010081592, ss5245553171, ss5446012834, ss5675787963	NC_000001.11:206638575:T:	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
8895711386	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
195805, 1084738, ss947038323, ss1574084414, ss3727799873, ss3783669104, ss3789284409, ss3794156675, ss5148116719	NC_000001.10:206811920::T	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4010081590, ss5245553170, ss5446012835, ss5675787962	NC_000001.11:206638575::T	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8895711386	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5148116721	NC_000001.10:206811920::TT	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4010081591	NC_000001.11:206638575::TT	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
8895711386	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2332109925	NC_000001.10:206811920:TTT:	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTT
28088434, ss3101587583	NC_000001.11:206638575:TTT:	NC_000001.11:206638575:TTTTTTTTTTT… NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTT

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

No publications for rs530299102

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

rs530299102