Name: rs34463989
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.

rs34463989

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:50145671-50145680 (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: del(A)₄ / delAA / delA / dupA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₄=0.000011 (3/264690, TOPMED)
delA=0.05349 (795/14863, ALFA)
delA=0.1782 (382/2144, 1000G) (+ 1 more)
delA=0.133 (80/600, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CERS5 : Intron Variant
LOC124902931 : 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	14863	AAAAAAAAAA=0.94591	AAAAAA=0.00000, AAAAAAAA=0.00000, AAAAAAAAA=0.05349, AAAAAAAAAAA=0.00061	0.91772	0.005887	0.076393	32
European	Sub	11210	AAAAAAAAAA=0.92917	AAAAAA=0.00000, AAAAAAAA=0.00000, AAAAAAAAA=0.07003, AAAAAAAAAAA=0.00080	0.890446	0.007978	0.101576	19
African	Sub	2404	AAAAAAAAAA=0.9975	AAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0025, AAAAAAAAAAA=0.0000	0.995008	0.0	0.004992	0
African Others	Sub	100	AAAAAAAAAA=0.99	AAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.01, AAAAAAAAAAA=0.00	0.98	0.0	0.02	0
African American	Sub	2304	AAAAAAAAAA=0.9978	AAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0022, AAAAAAAAAAA=0.0000	0.99566	0.0	0.00434	0
Asian	Sub	96	AAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	AAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	AAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	120	AAAAAAAAAA=1.000	AAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	532	AAAAAAAAAA=1.000	AAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	84	AAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	417	AAAAAAAAAA=0.990	AAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.010, AAAAAAAAAAA=0.000	0.980676	0.0	0.019324	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
TopMed	Global	Study-wide	264690	(A)₁₀=0.999989	del(A)₄=0.000011
Allele Frequency Aggregator	Total	Global	14863	(A)₁₀=0.94591	del(A)₄=0.00000, delAA=0.00000, delA=0.05349, dupA=0.00061
Allele Frequency Aggregator	European	Sub	11210	(A)₁₀=0.92917	del(A)₄=0.00000, delAA=0.00000, delA=0.07003, dupA=0.00080
Allele Frequency Aggregator	African	Sub	2404	(A)₁₀=0.9975	del(A)₄=0.0000, delAA=0.0000, delA=0.0025, dupA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	532	(A)₁₀=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	417	(A)₁₀=0.990	del(A)₄=0.000, delAA=0.000, delA=0.010, dupA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	120	(A)₁₀=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Asian	Sub	96	(A)₁₀=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	84	(A)₁₀=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00
1000Genomes	Global	Study-wide	2144	(A)₁₀=0.8218	delA=0.1782
1000Genomes	African	Sub	728	(A)₁₀=0.886	delA=0.114
1000Genomes	South Asian	Sub	498	(A)₁₀=0.839	delA=0.161
1000Genomes	Europe	Sub	412	(A)₁₀=0.777	delA=0.223
1000Genomes	American	Sub	261	(A)₁₀=0.751	delA=0.249
1000Genomes	East Asian	Sub	245	(A)₁₀=0.747	delA=0.253
Northern Sweden	ACPOP	Study-wide	600	(A)₁₀=0.867	delA=0.133

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 12	NC_000012.12:g.50145677_50145680del
GRCh38.p14 chr 12	NC_000012.12:g.50145679_50145680del
GRCh38.p14 chr 12	NC_000012.12:g.50145680del
GRCh38.p14 chr 12	NC_000012.12:g.50145680dup
GRCh37.p13 chr 12	NC_000012.11:g.50539460_50539463del
GRCh37.p13 chr 12	NC_000012.11:g.50539462_50539463del
GRCh37.p13 chr 12	NC_000012.11:g.50539463del
GRCh37.p13 chr 12	NC_000012.11:g.50539463dup

Gene: CERS5, ceramide synthase 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CERS5 transcript variant 2	NM_001281731.2:c.-178-705… NM_001281731.2:c.-178-705_-178-702del	N/A	Intron Variant
CERS5 transcript variant 4	NM_001331069.3:c.-178-705… NM_001331069.3:c.-178-705_-178-702del	N/A	Intron Variant
CERS5 transcript variant 7	NM_001331070.3:c.198-1617… NM_001331070.3:c.198-1617_198-1614del	N/A	Intron Variant
CERS5 transcript variant 9	NM_001331071.3:c.198-1617… NM_001331071.3:c.198-1617_198-1614del	N/A	Intron Variant
CERS5 transcript variant 10	NM_001331072.3:c.-397-131… NM_001331072.3:c.-397-1310_-397-1307del	N/A	Intron Variant
CERS5 transcript variant 13	NM_001331073.3:c.-397-131… NM_001331073.3:c.-397-1310_-397-1307del	N/A	Intron Variant
CERS5 transcript variant 1	NM_147190.5:c.198-1617_19… NM_147190.5:c.198-1617_198-1614del	N/A	Intron Variant
CERS5 transcript variant 3	NR_104035.3:n.	N/A	Intron Variant
CERS5 transcript variant 5	NR_138532.3:n.	N/A	Intron Variant
CERS5 transcript variant 6	NR_138533.3:n.	N/A	Intron Variant
CERS5 transcript variant 8	NR_138534.3:n.	N/A	Intron Variant
CERS5 transcript variant 11	NR_138535.3:n.	N/A	Intron Variant
CERS5 transcript variant 12	NR_138536.3:n.	N/A	Intron Variant
CERS5 transcript variant X1	XM_005269220.3:c.198-1617… XM_005269220.3:c.198-1617_198-1614del	N/A	Intron Variant
CERS5 transcript variant X4	XM_017020204.3:c.198-1617… XM_017020204.3:c.198-1617_198-1614del	N/A	Intron Variant
CERS5 transcript variant X2	XM_047429865.1:c.	N/A	Genic Upstream Transcript Variant
CERS5 transcript variant X3	XM_047429866.1:c.	N/A	Genic Upstream Transcript Variant
CERS5 transcript variant X5	XM_047429867.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC124902931, uncharacterized LOC124902931 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124902931 transcript variant X1	XR_007063304.1:n.	N/A	Intron Variant
LOC124902931 transcript variant X2	XR_007063305.1:n.	N/A	Genic 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	(A)₁₀=	del(A)₄	delAA	delA	dupA
GRCh38.p14 chr 12	NC_000012.12:g.50145671_50145680=	NC_000012.12:g.50145677_50145680del	NC_000012.12:g.50145679_50145680del	NC_000012.12:g.50145680del	NC_000012.12:g.50145680dup
GRCh37.p13 chr 12	NC_000012.11:g.50539454_50539463=	NC_000012.11:g.50539460_50539463del	NC_000012.11:g.50539462_50539463del	NC_000012.11:g.50539463del	NC_000012.11:g.50539463dup
CERS5 transcript variant 2	NM_001281731.2:c.-178-702=	NM_001281731.2:c.-178-705_-178-702del	NM_001281731.2:c.-178-703_-178-702del	NM_001281731.2:c.-178-702del	NM_001281731.2:c.-178-702dup
CERS5 transcript variant 4	NM_001331069.3:c.-178-702=	NM_001331069.3:c.-178-705_-178-702del	NM_001331069.3:c.-178-703_-178-702del	NM_001331069.3:c.-178-702del	NM_001331069.3:c.-178-702dup
CERS5 transcript variant 7	NM_001331070.3:c.198-1614=	NM_001331070.3:c.198-1617_198-1614del	NM_001331070.3:c.198-1615_198-1614del	NM_001331070.3:c.198-1614del	NM_001331070.3:c.198-1614dup
CERS5 transcript variant 9	NM_001331071.3:c.198-1614=	NM_001331071.3:c.198-1617_198-1614del	NM_001331071.3:c.198-1615_198-1614del	NM_001331071.3:c.198-1614del	NM_001331071.3:c.198-1614dup
CERS5 transcript variant 10	NM_001331072.3:c.-397-1307=	NM_001331072.3:c.-397-1310_-397-1307del	NM_001331072.3:c.-397-1308_-397-1307del	NM_001331072.3:c.-397-1307del	NM_001331072.3:c.-397-1307dup
CERS5 transcript variant 13	NM_001331073.3:c.-397-1307=	NM_001331073.3:c.-397-1310_-397-1307del	NM_001331073.3:c.-397-1308_-397-1307del	NM_001331073.3:c.-397-1307del	NM_001331073.3:c.-397-1307dup
CERS5 transcript	NM_147190.2:c.198-1614=	NM_147190.2:c.198-1617_198-1614del	NM_147190.2:c.198-1615_198-1614del	NM_147190.2:c.198-1614del	NM_147190.2:c.198-1614dup
CERS5 transcript variant 1	NM_147190.5:c.198-1614=	NM_147190.5:c.198-1617_198-1614del	NM_147190.5:c.198-1615_198-1614del	NM_147190.5:c.198-1614del	NM_147190.5:c.198-1614dup
CERS5 transcript variant X1	XM_005269220.1:c.198-1614=	XM_005269220.1:c.198-1617_198-1614del	XM_005269220.1:c.198-1615_198-1614del	XM_005269220.1:c.198-1614del	XM_005269220.1:c.198-1614dup
CERS5 transcript variant X1	XM_005269220.3:c.198-1614=	XM_005269220.3:c.198-1617_198-1614del	XM_005269220.3:c.198-1615_198-1614del	XM_005269220.3:c.198-1614del	XM_005269220.3:c.198-1614dup
CERS5 transcript variant X2	XM_005269221.1:c.-178-702=	XM_005269221.1:c.-178-705_-178-702del	XM_005269221.1:c.-178-703_-178-702del	XM_005269221.1:c.-178-702del	XM_005269221.1:c.-178-702dup
CERS5 transcript variant X4	XM_017020204.3:c.198-1614=	XM_017020204.3:c.198-1617_198-1614del	XM_017020204.3:c.198-1615_198-1614del	XM_017020204.3:c.198-1614del	XM_017020204.3:c.198-1614dup

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#.

30 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40148486	Dec 03, 2013 (138)
2	HGSV	ss79718887	Sep 08, 2015 (146)
3	GMI	ss289127775	May 04, 2012 (137)
4	PJP	ss294751205	May 09, 2011 (137)
5	SSMP	ss664125416	Apr 01, 2015 (144)
6	BILGI_BIOE	ss666569230	Apr 25, 2013 (138)
7	1000GENOMES	ss1372150243	Aug 21, 2014 (142)
8	BIOINF_KMB_FNS_UNIBA	ss3645252290	Oct 12, 2018 (152)
9	EVA_DECODE	ss3693650112	Jul 13, 2019 (153)
10	EVA_DECODE	ss3693650113	Jul 13, 2019 (153)
11	EVA_DECODE	ss3693650114	Jul 13, 2019 (153)
12	ACPOP	ss3739013526	Jul 13, 2019 (153)
13	KHV_HUMAN_GENOMES	ss3815797617	Jul 13, 2019 (153)
14	EVA	ss3833117675	Apr 27, 2020 (154)
15	GNOMAD	ss4251621379	Apr 26, 2021 (155)
16	GNOMAD	ss4251621380	Apr 26, 2021 (155)
17	GNOMAD	ss4251621381	Apr 26, 2021 (155)
18	TOPMED	ss4917940594	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5206270959	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5206270960	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5206270961	Apr 26, 2021 (155)
22	1000G_HIGH_COVERAGE	ss5290772886	Oct 16, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5290772888	Oct 16, 2022 (156)
24	HUGCELL_USP	ss5485530176	Oct 16, 2022 (156)
25	HUGCELL_USP	ss5485530178	Oct 16, 2022 (156)
26	HUGCELL_USP	ss5485530179	Oct 16, 2022 (156)
27	TOMMO_GENOMICS	ss5756044712	Oct 16, 2022 (156)
28	TOMMO_GENOMICS	ss5756044713	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5756044714	Oct 16, 2022 (156)
30	EVA	ss5837952814	Oct 16, 2022 (156)
31	1000Genomes	NC_000012.11 - 50539454	Oct 12, 2018 (152)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407036687 (NC_000012.12:50145670::A 1165/136798) Row 407036688 (NC_000012.12:50145670:A: 12947/136770) Row 407036689 (NC_000012.12:50145670:AA: 31/136814)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407036687 (NC_000012.12:50145670::A 1165/136798) Row 407036688 (NC_000012.12:50145670:A: 12947/136770) Row 407036689 (NC_000012.12:50145670:AA: 31/136814)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407036687 (NC_000012.12:50145670::A 1165/136798) Row 407036688 (NC_000012.12:50145670:A: 12947/136770) Row 407036689 (NC_000012.12:50145670:AA: 31/136814)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407036687 (NC_000012.12:50145670::A 1165/136798) Row 407036688 (NC_000012.12:50145670:A: 12947/136770) Row 407036689 (NC_000012.12:50145670:AA: 31/136814)...	-	Apr 26, 2021 (155)
36	Northern Sweden	NC_000012.11 - 50539454	Jul 13, 2019 (153)
37	8.3KJPN Submission ignored due to conflicting rows: Row 64240266 (NC_000012.11:50539453::A 3/16760) Row 64240267 (NC_000012.11:50539453:A: 639/16760) Row 64240268 (NC_000012.11:50539453:AA: 55/16760)	-	Apr 26, 2021 (155)
38	8.3KJPN Submission ignored due to conflicting rows: Row 64240266 (NC_000012.11:50539453::A 3/16760) Row 64240267 (NC_000012.11:50539453:A: 639/16760) Row 64240268 (NC_000012.11:50539453:AA: 55/16760)	-	Apr 26, 2021 (155)
39	8.3KJPN Submission ignored due to conflicting rows: Row 64240266 (NC_000012.11:50539453::A 3/16760) Row 64240267 (NC_000012.11:50539453:A: 639/16760) Row 64240268 (NC_000012.11:50539453:AA: 55/16760)	-	Apr 26, 2021 (155)
40	14KJPN Submission ignored due to conflicting rows: Row 89881816 (NC_000012.12:50145670::A 5/28258) Row 89881817 (NC_000012.12:50145670:A: 1098/28258) Row 89881818 (NC_000012.12:50145670:AA: 87/28258)	-	Oct 16, 2022 (156)
41	14KJPN Submission ignored due to conflicting rows: Row 89881816 (NC_000012.12:50145670::A 5/28258) Row 89881817 (NC_000012.12:50145670:A: 1098/28258) Row 89881818 (NC_000012.12:50145670:AA: 87/28258)	-	Oct 16, 2022 (156)
42	14KJPN Submission ignored due to conflicting rows: Row 89881816 (NC_000012.12:50145670::A 5/28258) Row 89881817 (NC_000012.12:50145670:A: 1098/28258) Row 89881818 (NC_000012.12:50145670:AA: 87/28258)	-	Oct 16, 2022 (156)
43	TopMed	NC_000012.12 - 50145671	Apr 26, 2021 (155)
44	ALFA	NC_000012.12 - 50145671	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).

Associated ID	History Updated (Build)
rs57707385	May 24, 2008 (130)
rs72480577	May 11, 2012 (137)
rs151187270	May 11, 2012 (137)
rs377300998	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
133486251, ss4251621381, ss4917940594	NC_000012.12:50145670:AAAA:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAA	(self)
4525522011	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAA	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAA	(self)
ss5206270961	NC_000012.11:50539453:AA:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAA	(self)
ss3693650114, ss4251621380, ss5485530179, ss5756044714	NC_000012.12:50145670:AA:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAA	(self)
4525522011	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAA	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAA	(self)
ss79718887	NC_000012.9:48825729:A:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	(self)
ss289127775, ss294751205	NC_000012.10:48825720:A:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	(self)
57723321, 12298391, ss664125416, ss666569230, ss1372150243, ss3739013526, ss3833117675, ss5206270960, ss5837952814	NC_000012.11:50539453:A:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	(self)
ss3645252290, ss3815797617, ss5290772886, ss5485530176, ss5756044713	NC_000012.12:50145670:A:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	(self)
4525522011	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	(self)
ss3693650113	NC_000012.12:50145671:A:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	(self)
ss40148486	NT_029419.12:12682768:A:	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA	(self)
ss5206270959	NC_000012.11:50539453::A	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAAAA	(self)
ss4251621379, ss5290772888, ss5485530178, ss5756044712	NC_000012.12:50145670::A	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAAAA	(self)
4525522011	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAAAA	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAAAA	(self)
ss3693650112	NC_000012.12:50145672::A	NC_000012.12:50145670:AAAAAAAAAA:A… NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAAAA	(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 rs34463989

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

rs34463989