Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

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.

rs35478150

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:18619962 (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
A>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.031002 (8206/264690, TOPMED)
C=0.048557 (11766/242312, ALFA)
C=0.031272 (5337/170666, GnomAD_exome) (+ 12 more)
C=0.032487 (3400/104656, GnomAD)
C=0.03976 (2395/60234, ExAC)
C=0.03308 (348/10520, GO-ESP)
C=0.0175 (84/4805, 1000G_30x)
C=0.0167 (63/3775, 1000G)
C=0.0539 (200/3708, TWINSUK)
C=0.0492 (142/2889, ALSPAC)
C=0.066 (35/534, MGP)
C=0.009 (3/340, HapMap)
C=0.009 (1/108, Qatari)
C=0.05 (2/40, GENOME_DK)
A=0.1 (1/8, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CDKL5 : Missense Variant
Publications
8 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 242312 A=0.951443 C=0.048557
European Sub 209944 A=0.947619 C=0.052381
African Sub 6612 A=0.9902 C=0.0098
African Others Sub 230 A=0.996 C=0.004
African American Sub 6382 A=0.9900 C=0.0100
Asian Sub 6586 A=1.0000 C=0.0000
East Asian Sub 4668 A=1.0000 C=0.0000
Other Asian Sub 1918 A=1.0000 C=0.0000
Latin American 1 Sub 622 A=0.963 C=0.037
Latin American 2 Sub 2348 A=0.9817 C=0.0183
South Asian Sub 318 A=0.978 C=0.022
Other Sub 15882 A=0.96027 C=0.03973


Help

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
TopMed Global Study-wide 264690 A=0.968998 C=0.031002
Allele Frequency Aggregator Total Global 242312 A=0.951443 C=0.048557
Allele Frequency Aggregator European Sub 209944 A=0.947619 C=0.052381
Allele Frequency Aggregator Other Sub 15882 A=0.96027 C=0.03973
Allele Frequency Aggregator African Sub 6612 A=0.9902 C=0.0098
Allele Frequency Aggregator Asian Sub 6586 A=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2348 A=0.9817 C=0.0183
Allele Frequency Aggregator Latin American 1 Sub 622 A=0.963 C=0.037
Allele Frequency Aggregator South Asian Sub 318 A=0.978 C=0.022
gnomAD - Exomes Global Study-wide 170666 A=0.968728 C=0.031272
gnomAD - Exomes European Sub 90681 A=0.95479 C=0.04521
gnomAD - Exomes Asian Sub 30110 A=0.99346 C=0.00654
gnomAD - Exomes American Sub 26548 A=0.98565 C=0.01435
gnomAD - Exomes African Sub 11878 A=0.99436 C=0.00564
gnomAD - Exomes Ashkenazi Jewish Sub 7178 A=0.9365 C=0.0635
gnomAD - Exomes Other Sub 4271 A=0.9682 C=0.0318
gnomAD - Genomes Global Study-wide 104656 A=0.967513 C=0.032487
gnomAD - Genomes European Sub 57279 A=0.95253 C=0.04747
gnomAD - Genomes African Sub 31582 A=0.99272 C=0.00728
gnomAD - Genomes American Sub 9431 A=0.9748 C=0.0252
gnomAD - Genomes Ashkenazi Jewish Sub 2522 A=0.9358 C=0.0642
gnomAD - Genomes East Asian Sub 2256 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 1586 A=0.9678 C=0.0322
ExAC Global Study-wide 60234 A=0.96024 C=0.03976
ExAC Europe Sub 34803 A=0.93871 C=0.06129
ExAC Asian Sub 12132 A=0.99225 C=0.00775
ExAC American Sub 6826 A=0.9859 C=0.0141
ExAC African Sub 6035 A=0.9914 C=0.0086
ExAC Other Sub 438 A=0.954 C=0.046
GO Exome Sequencing Project Global Study-wide 10520 A=0.96692 C=0.03308
GO Exome Sequencing Project European American Sub 6700 A=0.9513 C=0.0487
GO Exome Sequencing Project African American Sub 3820 A=0.9942 C=0.0058
1000Genomes_30x Global Study-wide 4805 A=0.9825 C=0.0175
1000Genomes_30x African Sub 1328 A=1.0000 C=0.0000
1000Genomes_30x Europe Sub 961 A=0.938 C=0.062
1000Genomes_30x South Asian Sub 883 A=0.992 C=0.008
1000Genomes_30x East Asian Sub 878 A=1.000 C=0.000
1000Genomes_30x American Sub 755 A=0.977 C=0.023
1000Genomes Global Study-wide 3775 A=0.9833 C=0.0167
1000Genomes African Sub 1003 A=1.0000 C=0.0000
1000Genomes Europe Sub 766 A=0.943 C=0.057
1000Genomes East Asian Sub 764 A=1.000 C=0.000
1000Genomes South Asian Sub 718 A=0.992 C=0.008
1000Genomes American Sub 524 A=0.975 C=0.025
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9461 C=0.0539
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 A=0.9508 C=0.0492
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.934 C=0.066
HapMap Global Study-wide 340 A=0.991 C=0.009
HapMap American Sub 170 A=0.988 C=0.012
HapMap Asian Sub 170 A=0.994 C=0.006
Qatari Global Study-wide 108 A=0.991 C=0.009
The Danish reference pan genome Danish Study-wide 40 A=0.95 C=0.05
SGDP_PRJ Global Study-wide 8 A=0.1 C=0.9
Help

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 X NC_000023.11:g.18619962A>C
GRCh37.p13 chr X NC_000023.10:g.18638082A>C
CDKL5 RefSeqGene NG_008475.1:g.199358A>C
Gene: CDKL5, cyclin dependent kinase like 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CDKL5 transcript variant III NM_001323289.2:c.2372A>C Q [CAA] > P [CCA] Coding Sequence Variant
cyclin-dependent kinase-like 5 isoform 2 NP_001310218.1:p.Gln791Pro Q (Gln) > P (Pro) Missense Variant
CDKL5 transcript variant II NM_001037343.2:c.2372A>C Q [CAA] > P [CCA] Coding Sequence Variant
cyclin-dependent kinase-like 5 isoform 1 NP_001032420.1:p.Gln791Pro Q (Gln) > P (Pro) Missense Variant
CDKL5 transcript variant I NM_003159.3:c.2372A>C Q [CAA] > P [CCA] Coding Sequence Variant
cyclin-dependent kinase-like 5 isoform 1 NP_003150.1:p.Gln791Pro Q (Gln) > P (Pro) Missense Variant
Help

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.

Allele: C (allele ID: 140416 )
ClinVar Accession Disease Names Clinical Significance
RCV000145529.17 not specified Benign
RCV000459993.9 Angelman syndrome-like,Developmental and epileptic encephalopathy, 2 Benign
RCV000715071.2 History of neurodevelopmental disorder Benign
RCV001579284.3 Developmental and epileptic encephalopathy, 2 Benign
Help

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= C
GRCh38.p14 chr X NC_000023.11:g.18619962= NC_000023.11:g.18619962A>C
GRCh37.p13 chr X NC_000023.10:g.18638082= NC_000023.10:g.18638082A>C
CDKL5 RefSeqGene NG_008475.1:g.199358= NG_008475.1:g.199358A>C
CDKL5 transcript variant I NM_003159.3:c.2372= NM_003159.3:c.2372A>C
CDKL5 transcript variant I NM_003159.2:c.2372= NM_003159.2:c.2372A>C
CDKL5 transcript variant III NM_001323289.2:c.2372= NM_001323289.2:c.2372A>C
CDKL5 transcript variant III NM_001323289.1:c.2372= NM_001323289.1:c.2372A>C
CDKL5 transcript variant II NM_001037343.2:c.2372= NM_001037343.2:c.2372A>C
CDKL5 transcript variant II NM_001037343.1:c.2372= NM_001037343.1:c.2372A>C
cyclin-dependent kinase-like 5 isoform 1 NP_003150.1:p.Gln791= NP_003150.1:p.Gln791Pro
cyclin-dependent kinase-like 5 isoform 2 NP_001310218.1:p.Gln791= NP_001310218.1:p.Gln791Pro
cyclin-dependent kinase-like 5 isoform 1 NP_001032420.1:p.Gln791= NP_001032420.1:p.Gln791Pro
Help

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, 15 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CANCER-GENOME ss48534345 Mar 15, 2006 (126)
2 PERLEGEN ss69258576 May 16, 2007 (127)
3 ILLUMINA ss74969636 Dec 07, 2007 (129)
4 ILLUMINA ss160627270 Dec 01, 2009 (131)
5 ILLUMINA ss173601220 Jul 04, 2010 (132)
6 1000GENOMES ss341340952 May 09, 2011 (134)
7 NHLBI-ESP ss342550474 May 09, 2011 (134)
8 ILLUMINA ss480791494 May 04, 2012 (137)
9 ILLUMINA ss480807188 May 04, 2012 (137)
10 ILLUMINA ss481723837 Sep 08, 2015 (146)
11 ILLUMINA ss485190533 May 04, 2012 (137)
12 1000GENOMES ss491198526 May 04, 2012 (137)
13 EXOME_CHIP ss491575368 May 04, 2012 (137)
14 CLINSEQ_SNP ss491949126 May 04, 2012 (137)
15 ILLUMINA ss535305835 Sep 08, 2015 (146)
16 CHWRETT ss538296841 Aug 08, 2012 (137)
17 ILLUMINA ss780765118 Aug 21, 2014 (142)
18 ILLUMINA ss783041317 Sep 08, 2015 (146)
19 ILLUMINA ss783444410 Aug 21, 2014 (142)
20 ILLUMINA ss784000560 Sep 08, 2015 (146)
21 ILLUMINA ss832299063 Sep 08, 2015 (146)
22 ILLUMINA ss833976224 Sep 08, 2015 (146)
23 1000GENOMES ss1553687192 Apr 01, 2015 (144)
24 EVA_GENOME_DK ss1583339780 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1640416067 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1683410100 Apr 01, 2015 (144)
27 EVA_EXAC ss1694468742 Apr 01, 2015 (144)
28 EVA_MGP ss1711578190 Apr 01, 2015 (144)
29 ILLUMINA ss1752802264 Sep 08, 2015 (146)
30 ILLUMINA ss1752802265 Sep 08, 2015 (146)
31 ILLUMINA ss1917716307 Feb 12, 2016 (147)
32 WEILL_CORNELL_DGM ss1939182690 Feb 12, 2016 (147)
33 ILLUMINA ss1945969518 Feb 12, 2016 (147)
34 ILLUMINA ss1958178819 Feb 12, 2016 (147)
35 HUMAN_LONGEVITY ss2316005003 Dec 20, 2016 (150)
36 ILLUMINA ss2634943045 Nov 08, 2017 (151)
37 ILLUMINA ss2711178530 Nov 08, 2017 (151)
38 GNOMAD ss2745323728 Nov 08, 2017 (151)
39 GNOMAD ss2746082314 Nov 08, 2017 (151)
40 GNOMAD ss2976935522 Nov 08, 2017 (151)
41 AFFY ss2985481519 Nov 08, 2017 (151)
42 SWEGEN ss3019695014 Nov 08, 2017 (151)
43 ILLUMINA ss3022993153 Nov 08, 2017 (151)
44 CSHL ss3352913086 Nov 08, 2017 (151)
45 ILLUMINA ss3630403684 Oct 12, 2018 (152)
46 ILLUMINA ss3630403685 Oct 12, 2018 (152)
47 ILLUMINA ss3632830105 Oct 12, 2018 (152)
48 ILLUMINA ss3633554340 Oct 12, 2018 (152)
49 ILLUMINA ss3634283979 Oct 12, 2018 (152)
50 ILLUMINA ss3635243496 Oct 12, 2018 (152)
51 ILLUMINA ss3635243497 Oct 12, 2018 (152)
52 ILLUMINA ss3635961419 Oct 12, 2018 (152)
53 ILLUMINA ss3636991535 Oct 12, 2018 (152)
54 ILLUMINA ss3637714861 Oct 12, 2018 (152)
55 ILLUMINA ss3638848689 Oct 12, 2018 (152)
56 ILLUMINA ss3640950978 Oct 12, 2018 (152)
57 ILLUMINA ss3640950979 Oct 12, 2018 (152)
58 ILLUMINA ss3643773278 Oct 12, 2018 (152)
59 ILLUMINA ss3645009143 Oct 12, 2018 (152)
60 BIOINF_KMB_FNS_UNIBA ss3646185369 Oct 12, 2018 (152)
61 OMUKHERJEE_ADBS ss3646571298 Oct 12, 2018 (152)
62 ILLUMINA ss3653551546 Oct 12, 2018 (152)
63 ILLUMINA ss3654247867 Oct 12, 2018 (152)
64 ILLUMINA ss3726665845 Jul 13, 2019 (153)
65 ILLUMINA ss3744597643 Jul 13, 2019 (153)
66 ILLUMINA ss3745543921 Jul 13, 2019 (153)
67 ILLUMINA ss3745543922 Jul 13, 2019 (153)
68 ILLUMINA ss3773035627 Jul 13, 2019 (153)
69 ILLUMINA ss3773035628 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3822810473 Jul 13, 2019 (153)
71 EVA ss3825475078 Apr 27, 2020 (154)
72 EVA ss3825976686 Apr 27, 2020 (154)
73 EVA ss3841670776 Apr 27, 2020 (154)
74 EVA ss3847187778 Apr 27, 2020 (154)
75 SGDP_PRJ ss3891081648 Apr 27, 2020 (154)
76 FSA-LAB ss3984439024 Apr 26, 2021 (155)
77 EVA ss3986874132 Apr 26, 2021 (155)
78 TOPMED ss5116878573 Apr 26, 2021 (155)
79 EVA ss5237055598 Apr 26, 2021 (155)
80 EVA ss5237621538 Apr 26, 2021 (155)
81 EVA ss5237677054 Oct 16, 2022 (156)
82 1000G_HIGH_COVERAGE ss5311942555 Oct 16, 2022 (156)
83 HUGCELL_USP ss5503675037 Oct 16, 2022 (156)
84 1000G_HIGH_COVERAGE ss5619846090 Oct 16, 2022 (156)
85 SANFORD_IMAGENETICS ss5664941012 Oct 16, 2022 (156)
86 EVA ss5848228705 Oct 16, 2022 (156)
87 EVA ss5848739701 Oct 16, 2022 (156)
88 EVA ss5977906754 Oct 16, 2022 (156)
89 EVA ss5979912693 Oct 16, 2022 (156)
90 1000Genomes NC_000023.10 - 18638082 Oct 12, 2018 (152)
91 1000Genomes_30x NC_000023.11 - 18619962 Oct 16, 2022 (156)
92 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 18638082 Oct 12, 2018 (152)
93 ExAC NC_000023.10 - 18638082 Oct 12, 2018 (152)
94 The Danish reference pan genome NC_000023.10 - 18638082 Apr 27, 2020 (154)
95 gnomAD - Genomes NC_000023.11 - 18619962 Apr 26, 2021 (155)
96 gnomAD - Exomes NC_000023.10 - 18638082 Jul 13, 2019 (153)
97 GO Exome Sequencing Project NC_000023.10 - 18638082 Oct 12, 2018 (152)
98 HapMap NC_000023.11 - 18619962 Apr 27, 2020 (154)
99 Medical Genome Project healthy controls from Spanish population NC_000023.10 - 18638082 Apr 27, 2020 (154)
100 Qatari NC_000023.10 - 18638082 Apr 27, 2020 (154)
101 SGDP_PRJ NC_000023.10 - 18638082 Apr 27, 2020 (154)
102 TopMed NC_000023.11 - 18619962 Apr 26, 2021 (155)
103 UK 10K study - Twins NC_000023.10 - 18638082 Oct 12, 2018 (152)
104 ALFA NC_000023.11 - 18619962 Apr 26, 2021 (155)
105 ClinVar RCV000145529.17 Oct 16, 2022 (156)
106 ClinVar RCV000459993.9 Oct 16, 2022 (156)
107 ClinVar RCV000715071.2 Oct 16, 2022 (156)
108 ClinVar RCV001579284.3 Oct 16, 2022 (156)
Help

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
ss480791494, ss491949126, ss3643773278 NC_000023.9:18548002:A:C NC_000023.11:18619961:A:C (self)
81669482, 45113961, 9966684, 9504717, 14659949, 1931882, 693950, 21224612, 43098628, 45113961, ss341340952, ss342550474, ss480807188, ss481723837, ss485190533, ss491198526, ss491575368, ss535305835, ss780765118, ss783041317, ss783444410, ss784000560, ss832299063, ss833976224, ss1553687192, ss1583339780, ss1640416067, ss1683410100, ss1694468742, ss1711578190, ss1752802264, ss1752802265, ss1917716307, ss1939182690, ss1945969518, ss1958178819, ss2634943045, ss2711178530, ss2745323728, ss2746082314, ss2976935522, ss2985481519, ss3019695014, ss3022993153, ss3352913086, ss3630403684, ss3630403685, ss3632830105, ss3633554340, ss3634283979, ss3635243496, ss3635243497, ss3635961419, ss3636991535, ss3637714861, ss3638848689, ss3640950978, ss3640950979, ss3645009143, ss3646571298, ss3653551546, ss3654247867, ss3744597643, ss3745543921, ss3745543922, ss3773035627, ss3773035628, ss3825475078, ss3825976686, ss3841670776, ss3891081648, ss3984439024, ss3986874132, ss5237621538, ss5664941012, ss5848228705, ss5848739701, ss5977906754, ss5979912693 NC_000023.10:18638081:A:C NC_000023.11:18619961:A:C (self)
RCV000145529.17, RCV000459993.9, RCV000715071.2, RCV001579284.3, 107372025, 576241863, 3954316, 680484930, 7325419115, ss538296841, ss2316005003, ss3646185369, ss3726665845, ss3822810473, ss3847187778, ss5116878573, ss5237055598, ss5237677054, ss5311942555, ss5503675037, ss5619846090 NC_000023.11:18619961:A:C NC_000023.11:18619961:A:C (self)
ss48534345, ss69258576, ss74969636, ss160627270, ss173601220 NT_167197.1:16519843:A:C NC_000023.11:18619961:A:C (self)
Help

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

8 citations for rs35478150
PMID Title Author Year Journal
15499549 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Tao J et al. 2004 American journal of human genetics
18414213 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Richards CS et al. 2008 Genetics in medicine
19241098 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Russo S et al. 2009 Neurogenetics
19564592 Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Fichou Y et al. 2009 Neurology
20397747 Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. White R et al. 2010 Twin research and human genetics
20479760 Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Piton A et al. 2011 Molecular psychiatry
21160487 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. Hadzsiev K et al. 2011 Journal of human genetics
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
Help

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.

Software version is: 2.0.1.post761+d5e8e07