Name: rs12116420
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.

rs12116420

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:14463579 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.112800 (29857/264690, TOPMED)
C=0.111860 (15679/140166, GnomAD)
C=0.140045 (16001/114256, ALFA) (+ 18 more)
C=0.15673 (4429/28258, 14KJPN)
C=0.15931 (2670/16760, 8.3KJPN)
C=0.1037 (664/6404, 1000G_30x)
C=0.1048 (525/5008, 1000G)
C=0.1092 (489/4480, Estonian)
C=0.1378 (531/3854, ALSPAC)
C=0.1470 (545/3708, TWINSUK)
C=0.1823 (534/2930, KOREAN)
C=0.2074 (380/1832, Korea1K)
C=0.135 (135/998, GoNL)
C=0.120 (72/600, NorthernSweden)
C=0.130 (43/330, HapMap)
C=0.116 (25/216, Qatari)
C=0.203 (43/212, Vietnamese)
T=0.402 (53/132, SGDP_PRJ)
C=0.17 (7/40, GENOME_DK)
T=0.5 (4/8, Siberian)
C=0.5 (4/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KAZN : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	114256	T=0.859955	C=0.140045
European	Sub	104430	T=0.855252	C=0.144748
African	Sub	3542	T=0.9337	C=0.0663
African Others	Sub	142	T=0.894	C=0.106
African American	Sub	3400	T=0.9353	C=0.0647
Asian	Sub	296	T=0.882	C=0.118
East Asian	Sub	204	T=0.877	C=0.123
Other Asian	Sub	92	T=0.89	C=0.11
Latin American 1	Sub	310	T=0.874	C=0.126
Latin American 2	Sub	1984	T=0.9315	C=0.0685
South Asian	Sub	120	T=0.833	C=0.167
Other	Sub	3574	T=0.8825	C=0.1175

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	T=0.887200	C=0.112800
gnomAD - Genomes	Global	Study-wide	140166	T=0.888140	C=0.111860
gnomAD - Genomes	European	Sub	75894	T=0.86622	C=0.13378
gnomAD - Genomes	African	Sub	42022	T=0.93273	C=0.06727
gnomAD - Genomes	American	Sub	13648	T=0.90878	C=0.09122
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.8034	C=0.1966
gnomAD - Genomes	East Asian	Sub	3128	T=0.8331	C=0.1669
gnomAD - Genomes	Other	Sub	2152	T=0.8704	C=0.1296
Allele Frequency Aggregator	Total	Global	114256	T=0.859955	C=0.140045
Allele Frequency Aggregator	European	Sub	104430	T=0.855252	C=0.144748
Allele Frequency Aggregator	Other	Sub	3574	T=0.8825	C=0.1175
Allele Frequency Aggregator	African	Sub	3542	T=0.9337	C=0.0663
Allele Frequency Aggregator	Latin American 2	Sub	1984	T=0.9315	C=0.0685
Allele Frequency Aggregator	Latin American 1	Sub	310	T=0.874	C=0.126
Allele Frequency Aggregator	Asian	Sub	296	T=0.882	C=0.118
Allele Frequency Aggregator	South Asian	Sub	120	T=0.833	C=0.167
14KJPN	JAPANESE	Study-wide	28258	T=0.84327	C=0.15673
8.3KJPN	JAPANESE	Study-wide	16760	T=0.84069	C=0.15931
1000Genomes_30x	Global	Study-wide	6404	T=0.8963	C=0.1037
1000Genomes_30x	African	Sub	1786	T=0.9323	C=0.0677
1000Genomes_30x	Europe	Sub	1266	T=0.8673	C=0.1327
1000Genomes_30x	South Asian	Sub	1202	T=0.8977	C=0.1023
1000Genomes_30x	East Asian	Sub	1170	T=0.8393	C=0.1607
1000Genomes_30x	American	Sub	980	T=0.935	C=0.065
1000Genomes	Global	Study-wide	5008	T=0.8952	C=0.1048
1000Genomes	African	Sub	1322	T=0.9372	C=0.0628
1000Genomes	East Asian	Sub	1008	T=0.8423	C=0.1577
1000Genomes	Europe	Sub	1006	T=0.8748	C=0.1252
1000Genomes	South Asian	Sub	978	T=0.889	C=0.111
1000Genomes	American	Sub	694	T=0.931	C=0.069
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8908	C=0.1092
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8622	C=0.1378
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8530	C=0.1470
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8177	C=0.1823
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7926	C=0.2074
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.865	C=0.135
Northern Sweden	ACPOP	Study-wide	600	T=0.880	C=0.120
HapMap	Global	Study-wide	330	T=0.870	C=0.130
HapMap	African	Sub	120	T=0.883	C=0.117
HapMap	American	Sub	120	T=0.892	C=0.108
HapMap	Asian	Sub	90	T=0.82	C=0.18
Qatari	Global	Study-wide	216	T=0.884	C=0.116
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.797	C=0.203
SGDP_PRJ	Global	Study-wide	132	T=0.402	C=0.598
The Danish reference pan genome	Danish	Study-wide	40	T=0.82	C=0.17
Siberian	Global	Study-wide	8	T=0.5	C=0.5

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.14463579T>C
GRCh37.p13 chr 1	NC_000001.10:g.14790075T>C
KAZN RefSeqGene	NG_029844.2:g.575194T>C

Gene: KAZN, kazrin, periplakin interacting protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KAZN transcript variant D	NM_001017999.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant B	NM_001018000.4:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant C	NM_001018001.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant F	NM_001370229.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant G	NM_001370230.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant H	NM_001370231.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant A	NM_015209.2:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant E	NM_201628.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X4	XM_005245795.6:c.280-1354… XM_005245795.6:c.280-135404T>C	N/A	Intron Variant
KAZN transcript variant X1	XM_011541074.4:c.280-1354… XM_011541074.4:c.280-135404T>C	N/A	Intron Variant
KAZN transcript variant X8	XM_011541080.4:c.280-1354… XM_011541080.4:c.280-135404T>C	N/A	Intron Variant
KAZN transcript variant X10	XM_017000768.3:c.280-1354… XM_017000768.3:c.280-135404T>C	N/A	Intron Variant
KAZN transcript variant X11	XM_017000769.3:c.280-1354… XM_017000769.3:c.280-135404T>C	N/A	Intron Variant
KAZN transcript variant X12	XM_017000770.3:c.280-1354… XM_017000770.3:c.280-135404T>C	N/A	Intron Variant
KAZN transcript variant X3	XM_011541075.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X7	XM_011541076.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X6	XM_011541077.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X13	XM_017000771.2:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X2	XM_047415845.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X5	XM_047415858.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X9	XM_047415868.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X14	XM_047415880.1:c.	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	T=	C
GRCh38.p14 chr 1	NC_000001.11:g.14463579=	NC_000001.11:g.14463579T>C
GRCh37.p13 chr 1	NC_000001.10:g.14790075=	NC_000001.10:g.14790075T>C
KAZN RefSeqGene	NG_029844.2:g.575194=	NG_029844.2:g.575194T>C
KAZN transcript variant X1	XM_005245795.1:c.280-135404=	XM_005245795.1:c.280-135404T>C
KAZN transcript variant X4	XM_005245795.6:c.280-135404=	XM_005245795.6:c.280-135404T>C
KAZN transcript variant X2	XM_005245796.1:c.280-135404=	XM_005245796.1:c.280-135404T>C
KAZN transcript variant X1	XM_011541074.4:c.280-135404=	XM_011541074.4:c.280-135404T>C
KAZN transcript variant X8	XM_011541080.4:c.280-135404=	XM_011541080.4:c.280-135404T>C
KAZN transcript variant X10	XM_017000768.3:c.280-135404=	XM_017000768.3:c.280-135404T>C
KAZN transcript variant X11	XM_017000769.3:c.280-135404=	XM_017000769.3:c.280-135404T>C
KAZN transcript variant X12	XM_017000770.3:c.280-135404=	XM_017000770.3:c.280-135404T>C

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#.

89 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18243003	Feb 28, 2004 (120)
2	PERLEGEN	ss24243171	Sep 20, 2004 (123)
3	ABI	ss43920674	Mar 14, 2006 (126)
4	PERLEGEN	ss68759186	May 17, 2007 (127)
5	HGSV	ss84001145	Dec 15, 2007 (130)
6	BCMHGSC_JDW	ss87239816	Mar 23, 2008 (129)
7	HUMANGENOME_JCVI	ss99187985	Feb 05, 2009 (130)
8	1000GENOMES	ss110084738	Jan 24, 2009 (130)
9	ENSEMBL	ss131687183	Dec 01, 2009 (131)
10	ENSEMBL	ss137807177	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss163099392	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss163857827	Jul 04, 2010 (132)
13	1000GENOMES	ss218247435	Jul 14, 2010 (132)
14	1000GENOMES	ss230434700	Jul 14, 2010 (132)
15	1000GENOMES	ss238148754	Jul 15, 2010 (132)
16	BL	ss252930196	May 09, 2011 (134)
17	GMI	ss275723777	May 04, 2012 (137)
18	PJP	ss290627362	May 09, 2011 (134)
19	ILLUMINA	ss479675197	May 04, 2012 (137)
20	ILLUMINA	ss479680583	May 04, 2012 (137)
21	ILLUMINA	ss484636163	May 04, 2012 (137)
22	ILLUMINA	ss536755988	Sep 08, 2015 (146)
23	TISHKOFF	ss553819223	Apr 25, 2013 (138)
24	SSMP	ss647592299	Apr 25, 2013 (138)
25	ILLUMINA	ss778774628	Sep 08, 2015 (146)
26	ILLUMINA	ss782764909	Sep 08, 2015 (146)
27	ILLUMINA	ss783731216	Sep 08, 2015 (146)
28	ILLUMINA	ss832017232	Sep 08, 2015 (146)
29	ILLUMINA	ss834234507	Sep 08, 2015 (146)
30	EVA-GONL	ss974878377	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1067685632	Aug 21, 2014 (142)
32	1000GENOMES	ss1289771981	Aug 21, 2014 (142)
33	EVA_GENOME_DK	ss1573900468	Apr 01, 2015 (144)
34	EVA_DECODE	ss1584235767	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1599591554	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1642585587	Apr 01, 2015 (144)
37	ILLUMINA	ss1751869423	Sep 08, 2015 (146)
38	HAMMER_LAB	ss1793938568	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1918081420	Feb 12, 2016 (147)
40	GENOMED	ss1966689122	Jul 19, 2016 (147)
41	JJLAB	ss2019554284	Sep 14, 2016 (149)
42	USC_VALOUEV	ss2147552761	Dec 20, 2016 (150)
43	HUMAN_LONGEVITY	ss2160216865	Dec 20, 2016 (150)
44	SYSTEMSBIOZJU	ss2624293039	Nov 08, 2017 (151)
45	ILLUMINA	ss2632480432	Nov 08, 2017 (151)
46	GRF	ss2697453597	Nov 08, 2017 (151)
47	GNOMAD	ss2751891275	Nov 08, 2017 (151)
48	SWEGEN	ss2986343951	Nov 08, 2017 (151)
49	BIOINF_KMB_FNS_UNIBA	ss3023540823	Nov 08, 2017 (151)
50	CSHL	ss3343329934	Nov 08, 2017 (151)
51	ILLUMINA	ss3626031460	Oct 11, 2018 (152)
52	ILLUMINA	ss3630518636	Oct 11, 2018 (152)
53	ILLUMINA	ss3632881652	Oct 11, 2018 (152)
54	ILLUMINA	ss3633575537	Oct 11, 2018 (152)
55	ILLUMINA	ss3634308186	Oct 11, 2018 (152)
56	ILLUMINA	ss3635269635	Oct 11, 2018 (152)
57	ILLUMINA	ss3637020011	Oct 11, 2018 (152)
58	ILLUMINA	ss3640015550	Oct 11, 2018 (152)
59	URBANLAB	ss3646605331	Oct 11, 2018 (152)
60	EGCUT_WGS	ss3654431169	Jul 12, 2019 (153)
61	EVA_DECODE	ss3686210190	Jul 12, 2019 (153)
62	ACPOP	ss3726810932	Jul 12, 2019 (153)
63	ILLUMINA	ss3744609154	Jul 12, 2019 (153)
64	EVA	ss3745856900	Jul 12, 2019 (153)
65	ILLUMINA	ss3772110758	Jul 12, 2019 (153)
66	PACBIO	ss3783330395	Jul 12, 2019 (153)
67	PACBIO	ss3789003745	Jul 12, 2019 (153)
68	PACBIO	ss3793876460	Jul 12, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3798878194	Jul 12, 2019 (153)
70	EVA	ss3826034496	Apr 25, 2020 (154)
71	EVA	ss3836404752	Apr 25, 2020 (154)
72	EVA	ss3841808880	Apr 25, 2020 (154)
73	SGDP_PRJ	ss3848256318	Apr 25, 2020 (154)
74	KRGDB	ss3893147530	Apr 25, 2020 (154)
75	KOGIC	ss3943878784	Apr 25, 2020 (154)
76	EVA	ss4016894581	Apr 25, 2021 (155)
77	TOPMED	ss4439974101	Apr 25, 2021 (155)
78	TOMMO_GENOMICS	ss5142598018	Apr 25, 2021 (155)
79	1000G_HIGH_COVERAGE	ss5241268815	Oct 17, 2022 (156)
80	EVA	ss5314594785	Oct 17, 2022 (156)
81	HUGCELL_USP	ss5442451649	Oct 17, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5513067210	Oct 17, 2022 (156)
83	SANFORD_IMAGENETICS	ss5624976798	Oct 17, 2022 (156)
84	TOMMO_GENOMICS	ss5666943022	Oct 17, 2022 (156)
85	YY_MCH	ss5800348799	Oct 17, 2022 (156)
86	EVA	ss5831571830	Oct 17, 2022 (156)
87	EVA	ss5848793618	Oct 17, 2022 (156)
88	EVA	ss5907132622	Oct 17, 2022 (156)
89	EVA	ss5936795984	Oct 17, 2022 (156)
90	1000Genomes	NC_000001.10 - 14790075	Oct 11, 2018 (152)
91	1000Genomes_30x	NC_000001.11 - 14463579	Oct 17, 2022 (156)
92	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 14790075	Oct 11, 2018 (152)
93	Genetic variation in the Estonian population	NC_000001.10 - 14790075	Oct 11, 2018 (152)
94	The Danish reference pan genome	NC_000001.10 - 14790075	Apr 25, 2020 (154)
95	gnomAD - Genomes	NC_000001.11 - 14463579	Apr 25, 2021 (155)
96	Genome of the Netherlands Release 5	NC_000001.10 - 14790075	Apr 25, 2020 (154)
97	HapMap	NC_000001.11 - 14463579	Apr 25, 2020 (154)
98	KOREAN population from KRGDB	NC_000001.10 - 14790075	Apr 25, 2020 (154)
99	Korean Genome Project	NC_000001.11 - 14463579	Apr 25, 2020 (154)
100	Northern Sweden	NC_000001.10 - 14790075	Jul 12, 2019 (153)
101	Qatari	NC_000001.10 - 14790075	Apr 25, 2020 (154)
102	SGDP_PRJ	NC_000001.10 - 14790075	Apr 25, 2020 (154)
103	Siberian	NC_000001.10 - 14790075	Apr 25, 2020 (154)
104	8.3KJPN	NC_000001.10 - 14790075	Apr 25, 2021 (155)
105	14KJPN	NC_000001.11 - 14463579	Oct 17, 2022 (156)
106	TopMed	NC_000001.11 - 14463579	Apr 25, 2021 (155)
107	UK 10K study - Twins	NC_000001.10 - 14790075	Oct 11, 2018 (152)
108	A Vietnamese Genetic Variation Database	NC_000001.10 - 14790075	Jul 12, 2019 (153)
109	ALFA	NC_000001.11 - 14463579	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).

Associated ID	History Updated (Build)
rs17410420	Oct 07, 2004 (123)
rs58640624	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84001145	NC_000001.8:14535380:T:C	NC_000001.11:14463578:T:C	(self)
ss87239816, ss110084738, ss163099392, ss163857827, ss252930196, ss275723777, ss290627362, ss479675197, ss1584235767	NC_000001.9:14662661:T:C	NC_000001.11:14463578:T:C	(self)
450994, 234550, 169417, 1398692, 101385, 324924, 95797, 123350, 273298, 69115, 567325, 234550, 49781, ss218247435, ss230434700, ss238148754, ss479680583, ss484636163, ss536755988, ss553819223, ss647592299, ss778774628, ss782764909, ss783731216, ss832017232, ss834234507, ss974878377, ss1067685632, ss1289771981, ss1573900468, ss1599591554, ss1642585587, ss1751869423, ss1793938568, ss1918081420, ss1966689122, ss2019554284, ss2147552761, ss2624293039, ss2632480432, ss2697453597, ss2751891275, ss2986343951, ss3343329934, ss3626031460, ss3630518636, ss3632881652, ss3633575537, ss3634308186, ss3635269635, ss3637020011, ss3640015550, ss3654431169, ss3726810932, ss3744609154, ss3745856900, ss3772110758, ss3783330395, ss3789003745, ss3793876460, ss3826034496, ss3836404752, ss3848256318, ss3893147530, ss4016894581, ss5142598018, ss5314594785, ss5624976798, ss5831571830, ss5936795984	NC_000001.10:14790074:T:C	NC_000001.11:14463578:T:C	(self)
593145, 3165227, 17522, 256785, 780126, 3580436, 9967492406, ss2160216865, ss3023540823, ss3646605331, ss3686210190, ss3798878194, ss3841808880, ss3943878784, ss4439974101, ss5241268815, ss5442451649, ss5513067210, ss5666943022, ss5800348799, ss5848793618, ss5907132622	NC_000001.11:14463578:T:C	NC_000001.11:14463578:T:C	(self)
ss24243171, ss43920674, ss68759186, ss99187985, ss131687183, ss137807177	NT_004610.19:1470162:T:C	NC_000001.11:14463578:T:C	(self)
ss18243003	NT_004873.15:1167239:T:C	NC_000001.11:14463578:T:C	(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 rs12116420

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

rs12116420