Name: rs397988179
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.

rs397988179

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:230795277-230795290 (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: delAA / delA / dupA / dupAA / dupA…
delAA / delA / dupA / dupAA / dupAAA / dup(A)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₄=0.4790 (2399/5008, 1000G)
delAA=0.0000 (0/2312, ALFA)
delA=0.0000 (0/2312, ALFA) (+ 4 more)
dupA=0.0000 (0/2312, ALFA)
dupAA=0.0000 (0/2312, ALFA)
dupAAA=0.0000 (0/2312, ALFA)
(A)₁₄=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CAB39 : 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	2312	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	1994	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	60	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	60	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	20	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	18	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	22	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	118	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	16	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	82	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.5210
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.7163
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.4256
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.4215
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.507
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.451
Allele Frequency Aggregator	Total	Global	2312	(A)₁₄=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	1994	(A)₁₄=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	118	(A)₁₄=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	82	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	African	Sub	60	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	22	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	20	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	16	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.57

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 2	NC_000002.12:g.230795289_230795290del
GRCh38.p14 chr 2	NC_000002.12:g.230795290del
GRCh38.p14 chr 2	NC_000002.12:g.230795290dup
GRCh38.p14 chr 2	NC_000002.12:g.230795289_230795290dup
GRCh38.p14 chr 2	NC_000002.12:g.230795288_230795290dup
GRCh38.p14 chr 2	NC_000002.12:g.230795281_230795290dup
GRCh37.p13 chr 2	NC_000002.11:g.231660004_231660005del
GRCh37.p13 chr 2	NC_000002.11:g.231660005del
GRCh37.p13 chr 2	NC_000002.11:g.231660005dup
GRCh37.p13 chr 2	NC_000002.11:g.231660004_231660005dup
GRCh37.p13 chr 2	NC_000002.11:g.231660003_231660005dup
GRCh37.p13 chr 2	NC_000002.11:g.231659996_231660005dup

Gene: CAB39, calcium binding protein 39 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CAB39 transcript variant 2	NM_001130849.2:c.398+1958… NM_001130849.2:c.398+1958_398+1959del	N/A	Intron Variant
CAB39 transcript variant 3	NM_001130850.2:c.398+1958… NM_001130850.2:c.398+1958_398+1959del	N/A	Intron Variant
CAB39 transcript variant 1	NM_016289.4:c.398+1958_39… NM_016289.4:c.398+1958_398+1959del	N/A	Intron Variant
CAB39 transcript variant X1	XR_007076406.1:n.	N/A	Intron Variant
CAB39 transcript variant X2	XR_007076407.1:n.	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	(A)₁₄=	delAA	delA	dupA	dupAA	dupAAA	dup(A)₁₀
GRCh38.p14 chr 2	NC_000002.12:g.230795277_230795290=	NC_000002.12:g.230795289_230795290del	NC_000002.12:g.230795290del	NC_000002.12:g.230795290dup	NC_000002.12:g.230795289_230795290dup	NC_000002.12:g.230795288_230795290dup	NC_000002.12:g.230795281_230795290dup
GRCh37.p13 chr 2	NC_000002.11:g.231659992_231660005=	NC_000002.11:g.231660004_231660005del	NC_000002.11:g.231660005del	NC_000002.11:g.231660005dup	NC_000002.11:g.231660004_231660005dup	NC_000002.11:g.231660003_231660005dup	NC_000002.11:g.231659996_231660005dup
CAB39 transcript variant 2	NM_001130849.1:c.398+1946=	NM_001130849.1:c.398+1958_398+1959del	NM_001130849.1:c.398+1959del	NM_001130849.1:c.398+1959dup	NM_001130849.1:c.398+1958_398+1959dup	NM_001130849.1:c.398+1957_398+1959dup	NM_001130849.1:c.398+1950_398+1959dup
CAB39 transcript variant 2	NM_001130849.2:c.398+1946=	NM_001130849.2:c.398+1958_398+1959del	NM_001130849.2:c.398+1959del	NM_001130849.2:c.398+1959dup	NM_001130849.2:c.398+1958_398+1959dup	NM_001130849.2:c.398+1957_398+1959dup	NM_001130849.2:c.398+1950_398+1959dup
CAB39 transcript variant 3	NM_001130850.1:c.398+1946=	NM_001130850.1:c.398+1958_398+1959del	NM_001130850.1:c.398+1959del	NM_001130850.1:c.398+1959dup	NM_001130850.1:c.398+1958_398+1959dup	NM_001130850.1:c.398+1957_398+1959dup	NM_001130850.1:c.398+1950_398+1959dup
CAB39 transcript variant 3	NM_001130850.2:c.398+1946=	NM_001130850.2:c.398+1958_398+1959del	NM_001130850.2:c.398+1959del	NM_001130850.2:c.398+1959dup	NM_001130850.2:c.398+1958_398+1959dup	NM_001130850.2:c.398+1957_398+1959dup	NM_001130850.2:c.398+1950_398+1959dup
CAB39 transcript variant 1	NM_016289.3:c.398+1946=	NM_016289.3:c.398+1958_398+1959del	NM_016289.3:c.398+1959del	NM_016289.3:c.398+1959dup	NM_016289.3:c.398+1958_398+1959dup	NM_016289.3:c.398+1957_398+1959dup	NM_016289.3:c.398+1950_398+1959dup
CAB39 transcript variant 1	NM_016289.4:c.398+1946=	NM_016289.4:c.398+1958_398+1959del	NM_016289.4:c.398+1959del	NM_016289.4:c.398+1959dup	NM_016289.4:c.398+1958_398+1959dup	NM_016289.4:c.398+1957_398+1959dup	NM_016289.4:c.398+1950_398+1959dup

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#.

39 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41783200	Oct 11, 2018 (152)
2	HUMANGENOME_JCVI	ss95305606	Dec 05, 2013 (138)
3	BL	ss255984994	Oct 11, 2018 (152)
4	GMI	ss288302434	Oct 11, 2018 (152)
5	SSMP	ss663291228	Apr 01, 2015 (144)
6	1000GENOMES	ss1369717577	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1575640560	Apr 01, 2015 (144)
8	JJLAB	ss2030485078	Sep 14, 2016 (149)
9	SWEGEN	ss2991520010	Nov 08, 2017 (151)
10	URBANLAB	ss3647298596	Oct 11, 2018 (152)
11	EVA_DECODE	ss3706222848	Jul 13, 2019 (153)
12	EVA_DECODE	ss3706222849	Jul 13, 2019 (153)
13	EVA_DECODE	ss3706222850	Jul 13, 2019 (153)
14	EVA_DECODE	ss3706222851	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3802570947	Jul 13, 2019 (153)
16	EVA	ss3827559272	Apr 25, 2020 (154)
17	EVA	ss3842622246	Apr 25, 2020 (154)
18	KOGIC	ss3950283823	Apr 25, 2020 (154)
19	KOGIC	ss3950283824	Apr 25, 2020 (154)
20	KOGIC	ss3950283825	Apr 25, 2020 (154)
21	GNOMAD	ss4062821645	Apr 26, 2021 (155)
22	GNOMAD	ss4062821646	Apr 26, 2021 (155)
23	GNOMAD	ss4062821647	Apr 26, 2021 (155)
24	GNOMAD	ss4062821649	Apr 26, 2021 (155)
25	GNOMAD	ss4062821650	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5156948283	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5156948284	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5252382453	Oct 13, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5252382454	Oct 13, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5252382455	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5451962691	Oct 13, 2022 (156)
32	HUGCELL_USP	ss5451962692	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5451962693	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5687963929	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5687963930	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5687963931	Oct 13, 2022 (156)
37	YY_MCH	ss5803307531	Oct 13, 2022 (156)
38	EVA	ss5821729565	Oct 13, 2022 (156)
39	EVA	ss5821729566	Oct 13, 2022 (156)
40	1000Genomes	NC_000002.11 - 231659992	Oct 11, 2018 (152)
41	The Danish reference pan genome	NC_000002.11 - 231659992	Apr 25, 2020 (154)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 93819757 (NC_000002.12:230795276::A 76241/130654) Row 93819758 (NC_000002.12:230795276::AA 2947/130664) Row 93819759 (NC_000002.12:230795276::AAA 3/130770)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 93819757 (NC_000002.12:230795276::A 76241/130654) Row 93819758 (NC_000002.12:230795276::AA 2947/130664) Row 93819759 (NC_000002.12:230795276::AAA 3/130770)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 93819757 (NC_000002.12:230795276::A 76241/130654) Row 93819758 (NC_000002.12:230795276::AA 2947/130664) Row 93819759 (NC_000002.12:230795276::AAA 3/130770)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 93819757 (NC_000002.12:230795276::A 76241/130654) Row 93819758 (NC_000002.12:230795276::AA 2947/130664) Row 93819759 (NC_000002.12:230795276::AAA 3/130770)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 93819757 (NC_000002.12:230795276::A 76241/130654) Row 93819758 (NC_000002.12:230795276::AA 2947/130664) Row 93819759 (NC_000002.12:230795276::AAA 3/130770)...	-	Apr 26, 2021 (155)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 6661824 (NC_000002.12:230795276:A: 40/1832) Row 6661825 (NC_000002.12:230795277::A 803/1832) Row 6661826 (NC_000002.12:230795277::AA 27/1832)	-	Apr 25, 2020 (154)
48	Korean Genome Project Submission ignored due to conflicting rows: Row 6661824 (NC_000002.12:230795276:A: 40/1832) Row 6661825 (NC_000002.12:230795277::A 803/1832) Row 6661826 (NC_000002.12:230795277::AA 27/1832)	-	Apr 25, 2020 (154)
49	Korean Genome Project Submission ignored due to conflicting rows: Row 6661824 (NC_000002.12:230795276:A: 40/1832) Row 6661825 (NC_000002.12:230795277::A 803/1832) Row 6661826 (NC_000002.12:230795277::AA 27/1832)	-	Apr 25, 2020 (154)
50	8.3KJPN Submission ignored due to conflicting rows: Row 14917590 (NC_000002.11:231659991::A 8393/16758) Row 14917591 (NC_000002.11:231659991:A: 8/16758)	-	Apr 26, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 14917590 (NC_000002.11:231659991::A 8393/16758) Row 14917591 (NC_000002.11:231659991:A: 8/16758)	-	Apr 26, 2021 (155)
52	14KJPN Submission ignored due to conflicting rows: Row 21801033 (NC_000002.12:230795276::A 14116/28256) Row 21801034 (NC_000002.12:230795276:A: 11/28256) Row 21801035 (NC_000002.12:230795276::AA 5/28256)	-	Oct 13, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 21801033 (NC_000002.12:230795276::A 14116/28256) Row 21801034 (NC_000002.12:230795276:A: 11/28256) Row 21801035 (NC_000002.12:230795276::AA 5/28256)	-	Oct 13, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 21801033 (NC_000002.12:230795276::A 14116/28256) Row 21801034 (NC_000002.12:230795276:A: 11/28256) Row 21801035 (NC_000002.12:230795276::AA 5/28256)	-	Oct 13, 2022 (156)
55	ALFA	NC_000002.12 - 230795277	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
ss4062821650, ss5252382455	NC_000002.12:230795276:AA:	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10783490228	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5156948284	NC_000002.11:231659991:A:	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3706222851, ss3950283823, ss4062821649, ss5451962693, ss5687963930	NC_000002.12:230795276:A:	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10783490228	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss255984994	NC_000002.10:231368235::A	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss288302434	NC_000002.10:231368249::A	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
13166239, 739489, ss663291228, ss1369717577, ss1575640560, ss2030485078, ss2991520010, ss3827559272, ss5156948283, ss5821729565	NC_000002.11:231659991::A	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3647298596, ss3802570947, ss3842622246, ss4062821645, ss5252382453, ss5451962691, ss5687963929, ss5803307531	NC_000002.12:230795276::A	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10783490228	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3706222850, ss3950283824	NC_000002.12:230795277::A	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss41783200	NT_005403.17:81869409::A	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss95305606	NT_005403.17:81869423::A	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5821729566	NC_000002.11:231659991::AA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
ss4062821646, ss5252382454, ss5451962692, ss5687963931	NC_000002.12:230795276::AA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10783490228	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3706222849, ss3950283825	NC_000002.12:230795277::AA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4062821647	NC_000002.12:230795276::AAA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10783490228	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3706222848	NC_000002.12:230795277::AAAAAAAAAA	NC_000002.12:230795276:AAAAAAAAAAA… NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(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 rs397988179

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

rs397988179