Name: rs1244095886
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.

rs1244095886

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:408009-408015 (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: delCCC / delCC / delC / dupC / dup…
delCCC / delCC / delC / dupC / dupCC / dupCCC / dup(C)₄ / dup(C)₅ / dup(C)₆ / dup(C)₇
Variation Type: Indel Insertion and Deletion
Frequency: delCCC=0.0000 (0/9806, ALFA)
delCC=0.0000 (0/9806, ALFA)
delC=0.0000 (0/9806, ALFA) (+ 7 more)
dupC=0.0000 (0/9806, ALFA)
dupCC=0.0000 (0/9806, ALFA)
dupCCC=0.0000 (0/9806, ALFA)
dup(C)₄=0.0000 (0/9806, ALFA)
dup(C)₅=0.0000 (0/9806, ALFA)
dup(C)₆=0.0000 (0/9806, ALFA)
dup(C)₇=0.0000 (0/9806, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RBCK1 : 2KB Upstream 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	HWEP
Total	Global	9806	CCCCCCC=1.0000	CCCC=0.0000, CCCCC=0.0000, CCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	1.0	N/A
European	Sub	6356	CCCCCCC=1.0000	CCCC=0.0000, CCCCC=0.0000, CCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	1.0	N/A
African	Sub	2214	CCCCCCC=1.0000	CCCC=0.0000, CCCCC=0.0000, CCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	1.0	N/A
African Others	Sub	80	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
African American	Sub	2134	CCCCCCC=1.0000	CCCC=0.0000, CCCCC=0.0000, CCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	1.0	N/A
Asian	Sub	94	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
East Asian	Sub	74	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
Other Asian	Sub	20	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
Latin American 1	Sub	120	CCCCCCC=1.000	CCCC=0.000, CCCCC=0.000, CCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	N/A
Latin American 2	Sub	540	CCCCCCC=1.000	CCCC=0.000, CCCCC=0.000, CCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	N/A
South Asian	Sub	74	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
Other	Sub	408	CCCCCCC=1.000	CCCC=0.000, CCCCC=0.000, CCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	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	9806	(C)₇=1.0000	delCCC=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000, dup(C)₄=0.0000, dup(C)₅=0.0000, dup(C)₆=0.0000, dup(C)₇=0.0000
Allele Frequency Aggregator	European	Sub	6356	(C)₇=1.0000	delCCC=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000, dup(C)₄=0.0000, dup(C)₅=0.0000, dup(C)₆=0.0000, dup(C)₇=0.0000
Allele Frequency Aggregator	African	Sub	2214	(C)₇=1.0000	delCCC=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000, dup(C)₄=0.0000, dup(C)₅=0.0000, dup(C)₆=0.0000, dup(C)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	540	(C)₇=1.000	delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000, dup(C)₅=0.000, dup(C)₆=0.000, dup(C)₇=0.000
Allele Frequency Aggregator	Other	Sub	408	(C)₇=1.000	delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000, dup(C)₅=0.000, dup(C)₆=0.000, dup(C)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	120	(C)₇=1.000	delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000, dup(C)₅=0.000, dup(C)₆=0.000, dup(C)₇=0.000
Allele Frequency Aggregator	Asian	Sub	94	(C)₇=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00, dup(C)₅=0.00, dup(C)₆=0.00, dup(C)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	74	(C)₇=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00, dup(C)₅=0.00, dup(C)₆=0.00, dup(C)₇=0.00

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 20	NC_000020.11:g.408013_408015del
GRCh38.p14 chr 20	NC_000020.11:g.408014_408015del
GRCh38.p14 chr 20	NC_000020.11:g.408015del
GRCh38.p14 chr 20	NC_000020.11:g.408015dup
GRCh38.p14 chr 20	NC_000020.11:g.408014_408015dup
GRCh38.p14 chr 20	NC_000020.11:g.408013_408015dup
GRCh38.p14 chr 20	NC_000020.11:g.408012_408015dup
GRCh38.p14 chr 20	NC_000020.11:g.408011_408015dup
GRCh38.p14 chr 20	NC_000020.11:g.408010_408015dup
GRCh38.p14 chr 20	NC_000020.11:g.408009_408015dup
GRCh37.p13 chr 20	NC_000020.10:g.388657_388659del
GRCh37.p13 chr 20	NC_000020.10:g.388658_388659del
GRCh37.p13 chr 20	NC_000020.10:g.388659del
GRCh37.p13 chr 20	NC_000020.10:g.388659dup
GRCh37.p13 chr 20	NC_000020.10:g.388658_388659dup
GRCh37.p13 chr 20	NC_000020.10:g.388657_388659dup
GRCh37.p13 chr 20	NC_000020.10:g.388656_388659dup
GRCh37.p13 chr 20	NC_000020.10:g.388655_388659dup
GRCh37.p13 chr 20	NC_000020.10:g.388654_388659dup
GRCh37.p13 chr 20	NC_000020.10:g.388653_388659dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4949_4951del
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4950_4951del
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4951del
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4951dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4950_4951dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4949_4951dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4948_4951dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4947_4951dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4946_4951dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4945_4951dup

Gene: RBCK1, RANBP2-type and C3HC4-type zinc finger containing 1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
RBCK1 transcript variant 3	NM_001323956.2:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant 4	NM_001323958.2:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant 5	NM_001323960.2:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant 1	NM_006462.6:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant 2	NM_031229.4:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant 6	NR_136659.2:n.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X3	XM_005260645.3:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X1	XM_011529137.3:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X2	XM_011529138.2:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X3	XM_011529139.4:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X4	XM_011529140.3:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X5	XM_047439833.1:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X6	XM_047439834.1:c.	N/A	Upstream Transcript Variant
RBCK1 transcript variant X7	XM_047439835.1:c.	N/A	Upstream 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	(C)₇=	delCCC	delCC	delC	dupC	dupCC	dupCCC	dup(C)₄	dup(C)₅	dup(C)₆	dup(C)₇
GRCh38.p14 chr 20	NC_000020.11:g.408009_408015=	NC_000020.11:g.408013_408015del	NC_000020.11:g.408014_408015del	NC_000020.11:g.408015del	NC_000020.11:g.408015dup	NC_000020.11:g.408014_408015dup	NC_000020.11:g.408013_408015dup	NC_000020.11:g.408012_408015dup	NC_000020.11:g.408011_408015dup	NC_000020.11:g.408010_408015dup	NC_000020.11:g.408009_408015dup
GRCh37.p13 chr 20	NC_000020.10:g.388653_388659=	NC_000020.10:g.388657_388659del	NC_000020.10:g.388658_388659del	NC_000020.10:g.388659del	NC_000020.10:g.388659dup	NC_000020.10:g.388658_388659dup	NC_000020.10:g.388657_388659dup	NC_000020.10:g.388656_388659dup	NC_000020.10:g.388655_388659dup	NC_000020.10:g.388654_388659dup	NC_000020.10:g.388653_388659dup
RBCK1 RefSeqGene (LRG_728)	NG_033233.1:g.4945_4951=	NG_033233.1:g.4949_4951del	NG_033233.1:g.4950_4951del	NG_033233.1:g.4951del	NG_033233.1:g.4951dup	NG_033233.1:g.4950_4951dup	NG_033233.1:g.4949_4951dup	NG_033233.1:g.4948_4951dup	NG_033233.1:g.4947_4951dup	NG_033233.1:g.4946_4951dup	NG_033233.1:g.4945_4951dup

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#.

22 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PACBIO	ss3788577665	Jul 13, 2019 (153)
2	PACBIO	ss3793481089	Jul 13, 2019 (153)
3	PACBIO	ss3798368243	Jul 13, 2019 (153)
4	KOGIC	ss3981683893	Apr 27, 2020 (154)
5	KOGIC	ss3981683894	Apr 27, 2020 (154)
6	GNOMAD	ss4333860621	Apr 26, 2021 (155)
7	GNOMAD	ss4333860622	Apr 26, 2021 (155)
8	GNOMAD	ss4333860623	Apr 26, 2021 (155)
9	GNOMAD	ss4333860624	Apr 26, 2021 (155)
10	GNOMAD	ss4333860625	Apr 26, 2021 (155)
11	GNOMAD	ss4333860626	Apr 26, 2021 (155)
12	GNOMAD	ss4333860628	Apr 26, 2021 (155)
13	GNOMAD	ss4333860629	Apr 26, 2021 (155)
14	TOMMO_GENOMICS	ss5228517636	Apr 26, 2021 (155)
15	TOMMO_GENOMICS	ss5228517637	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5228517638	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5228517639	Apr 26, 2021 (155)
18	HUGCELL_USP	ss5500254411	Oct 13, 2022 (156)
19	TOMMO_GENOMICS	ss5787412902	Oct 13, 2022 (156)
20	TOMMO_GENOMICS	ss5787412903	Oct 13, 2022 (156)
21	TOMMO_GENOMICS	ss5787412904	Oct 13, 2022 (156)
22	TOMMO_GENOMICS	ss5787412906	Oct 13, 2022 (156)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544448599 (NC_000020.11:408008::C 674/33162) Row 544448600 (NC_000020.11:408008::CC 397/33156) Row 544448601 (NC_000020.11:408008::CCC 60/33170)...	-	Apr 26, 2021 (155)
31	Korean Genome Project Submission ignored due to conflicting rows: Row 38061894 (NC_000020.11:408008:CC: 61/858) Row 38061895 (NC_000020.11:408010::C 39/858)	-	Apr 27, 2020 (154)
32	Korean Genome Project Submission ignored due to conflicting rows: Row 38061894 (NC_000020.11:408008:CC: 61/858) Row 38061895 (NC_000020.11:408010::C 39/858)	-	Apr 27, 2020 (154)
33	8.3KJPN Submission ignored due to conflicting rows: Row 86486943 (NC_000020.10:388652:CC: 164/9000) Row 86486944 (NC_000020.10:388652::C 527/9000) Row 86486945 (NC_000020.10:388652::CC 13/9000)...	-	Apr 26, 2021 (155)
34	8.3KJPN Submission ignored due to conflicting rows: Row 86486943 (NC_000020.10:388652:CC: 164/9000) Row 86486944 (NC_000020.10:388652::C 527/9000) Row 86486945 (NC_000020.10:388652::CC 13/9000)...	-	Apr 26, 2021 (155)
35	8.3KJPN Submission ignored due to conflicting rows: Row 86486943 (NC_000020.10:388652:CC: 164/9000) Row 86486944 (NC_000020.10:388652::C 527/9000) Row 86486945 (NC_000020.10:388652::CC 13/9000)...	-	Apr 26, 2021 (155)
36	8.3KJPN Submission ignored due to conflicting rows: Row 86486943 (NC_000020.10:388652:CC: 164/9000) Row 86486944 (NC_000020.10:388652::C 527/9000) Row 86486945 (NC_000020.10:388652::CC 13/9000)...	-	Apr 26, 2021 (155)
37	14KJPN Submission ignored due to conflicting rows: Row 121250006 (NC_000020.11:408008::C 771/21248) Row 121250007 (NC_000020.11:408008:CC: 456/21248) Row 121250008 (NC_000020.11:408008::CC 15/21248)...	-	Oct 13, 2022 (156)
38	14KJPN Submission ignored due to conflicting rows: Row 121250006 (NC_000020.11:408008::C 771/21248) Row 121250007 (NC_000020.11:408008:CC: 456/21248) Row 121250008 (NC_000020.11:408008::CC 15/21248)...	-	Oct 13, 2022 (156)
39	14KJPN Submission ignored due to conflicting rows: Row 121250006 (NC_000020.11:408008::C 771/21248) Row 121250007 (NC_000020.11:408008:CC: 456/21248) Row 121250008 (NC_000020.11:408008::CC 15/21248)...	-	Oct 13, 2022 (156)
40	14KJPN Submission ignored due to conflicting rows: Row 121250006 (NC_000020.11:408008::C 771/21248) Row 121250007 (NC_000020.11:408008:CC: 456/21248) Row 121250008 (NC_000020.11:408008::CC 15/21248)...	-	Oct 13, 2022 (156)
41	ALFA	NC_000020.11 - 408009	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
5401125229	NC_000020.11:408008:CCCCCCC:CCCC	NC_000020.11:408008:CCCCCCC:CCCC	(self)
ss5228517636	NC_000020.10:388652:CC:	NC_000020.11:408008:CCCCCCC:CCCCC	(self)
ss3981683893, ss4333860629, ss5787412903	NC_000020.11:408008:CC:	NC_000020.11:408008:CCCCCCC:CCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCC	NC_000020.11:408008:CCCCCCC:CCCCC	(self)
ss3788577665, ss3793481089, ss3798368243	NC_000020.10:388652:C:	NC_000020.11:408008:CCCCCCC:CCCCCC	(self)
ss4333860628, ss5500254411, ss5787412906	NC_000020.11:408008:C:	NC_000020.11:408008:CCCCCCC:CCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC	(self)
ss5228517637	NC_000020.10:388652::C	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCC	(self)
ss4333860621, ss5787412902	NC_000020.11:408008::C	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCC	(self)
ss3981683894	NC_000020.11:408010::C	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCC	(self)
ss5228517638	NC_000020.10:388652::CC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCC	(self)
ss4333860622, ss5787412904	NC_000020.11:408008::CC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCC	(self)
ss5228517639	NC_000020.10:388652::CCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCC	(self)
ss4333860623	NC_000020.11:408008::CCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCC	(self)
ss4333860624	NC_000020.11:408008::CCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCC	(self)
ss4333860625	NC_000020.11:408008::CCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCC	(self)
ss4333860626	NC_000020.11:408008::CCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCCC	(self)
5401125229	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCCCC	NC_000020.11:408008:CCCCCCC:CCCCCC… NC_000020.11:408008:CCCCCCC:CCCCCCCCCCCCCC	(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 rs1244095886

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

rs1244095886