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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 Aliases 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.

rs11231887

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr11:64831667 (GRCh38.p12) 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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.03296 (7887/239316, GnomAD_exome)
T=0.02650 (3328/125568, TOPMED)
T=0.0383 (3713/96882, ExAC) (+ 8 more)
T=0.0142 (1117/78572, PAGE_STUDY)
T=0.0259 (812/31392, GnomAD)
T=0.0320 (416/12986, GO-ESP)
T=0.019 (95/5008, 1000G)
T=0.033 (147/4480, Estonian)
T=0.039 (151/3854, ALSPAC)
T=0.035 (131/3708, TWINSUK)
T=0.02 (11/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CDC42BPG : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr 11 NC_000011.10:g.64831667C>T
GRCh37.p13 chr 11 NC_000011.9:g.64599139C>T
Gene: CDC42BPG, CDC42 binding protein kinase gamma (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CDC42BPG transcript NM_017525.3:c.3142G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma NP_059995.2:p.Ala1048Thr A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X10 XM_017017998.2:c. N/A Intron Variant
CDC42BPG transcript variant X13 XM_017017999.1:c.1084G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X11 XP_016873488.1:p.Ala362Thr A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X1 XM_011545155.3:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X1 XP_011543457.1:p.Ala106...

XP_011543457.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X2 XM_017017996.2:c.3193G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X2 XP_016873485.1:p.Ala106...

XP_016873485.1:p.Ala1065Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X3 XM_011545156.3:c.3175G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X3 XP_011543458.1:p.Ala105...

XP_011543458.1:p.Ala1059Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X4 XM_011545157.3:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X4 XP_011543459.1:p.Ala106...

XP_011543459.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X5 XM_011545158.3:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X5 XP_011543460.1:p.Ala106...

XP_011543460.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X6 XM_011545159.3:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X6 XP_011543461.1:p.Ala106...

XP_011543461.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X7 XM_011545160.3:c.2902G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X7 XP_011543462.1:p.Ala968Thr A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X8 XM_017017997.2:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X8 XP_016873486.1:p.Ala106...

XP_016873486.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X9 XM_011545161.3:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
serine/threonine-protein kinase MRCK gamma isoform X9 XP_011543463.1:p.Ala106...

XP_011543463.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
CDC42BPG transcript variant X11 XR_949988.3:n.3429G>A N/A Non Coding Transcript Variant
CDC42BPG transcript variant X12 XR_949989.3:n. N/A Genic Downstream Transcript 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.

Not Reported in ClinVar
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
gnomAD - Exomes Global Study-wide 239316 C=0.96704 T=0.03296
gnomAD - Exomes European Sub 125698 C=0.96469 T=0.03531
gnomAD - Exomes Asian Sub 48328 C=0.9724 T=0.0276
gnomAD - Exomes American Sub 34164 C=0.9813 T=0.0187
gnomAD - Exomes African Sub 15406 C=0.9935 T=0.0065
gnomAD - Exomes Ashkenazi Jewish Sub 9796 C=0.884 T=0.116
gnomAD - Exomes Other Sub 5924 C=0.959 T=0.041
TopMed Global Study-wide 125568 C=0.97350 T=0.02650
ExAC Global Study-wide 96882 C=0.9617 T=0.0383
ExAC Europe Sub 57982 C=0.9523 T=0.0477
ExAC Asian Sub 21590 C=0.9686 T=0.0314
ExAC American Sub 8970 C=0.980 T=0.020
ExAC African Sub 7658 C=0.992 T=0.008
ExAC Other Sub 682 C=0.95 T=0.05
The PAGE Study Global Study-wide 78572 C=0.9858 T=0.0142
The PAGE Study AfricanAmerican Sub 32410 C=0.9919 T=0.0081
The PAGE Study Mexican Sub 10808 C=0.9795 T=0.0205
The PAGE Study Asian Sub 8310 C=1.000 T=0.000
The PAGE Study PuertoRican Sub 7908 C=0.978 T=0.022
The PAGE Study NativeHawaiian Sub 4534 C=0.990 T=0.010
The PAGE Study Cuban Sub 4230 C=0.965 T=0.035
The PAGE Study Dominican Sub 3824 C=0.969 T=0.031
The PAGE Study CentralAmerican Sub 2450 C=0.984 T=0.016
The PAGE Study SouthAmerican Sub 1982 C=0.977 T=0.023
The PAGE Study NativeAmerican Sub 1260 C=0.976 T=0.024
The PAGE Study SouthAsian Sub 856 C=0.97 T=0.03
gnomAD - Genomes Global Study-wide 31392 C=0.9741 T=0.0259
gnomAD - Genomes European Sub 18892 C=0.9649 T=0.0351
gnomAD - Genomes African Sub 8714 C=0.995 T=0.005
gnomAD - Genomes East Asian Sub 1560 C=1.000 T=0.000
gnomAD - Genomes Other Sub 1088 C=0.961 T=0.039
gnomAD - Genomes American Sub 848 C=0.98 T=0.02
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.86 T=0.14
GO Exome Sequencing Project Global Study-wide 12986 C=0.9680 T=0.0320
GO Exome Sequencing Project European American Sub 8588 C=0.955 T=0.045
GO Exome Sequencing Project African American Sub 4398 C=0.993 T=0.007
1000Genomes Global Study-wide 5008 C=0.981 T=0.019
1000Genomes African Sub 1322 C=1.000 T=0.000
1000Genomes East Asian Sub 1008 C=1.000 T=0.000
1000Genomes Europe Sub 1006 C=0.963 T=0.037
1000Genomes South Asian Sub 978 C=0.95 T=0.05
1000Genomes American Sub 694 C=0.98 T=0.02
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.967 T=0.033
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.961 T=0.039
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.965 T=0.035
Northern Sweden ACPOP Study-wide 600 C=0.98 T=0.02
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 C= T Note
GRCh38.p12 chr 11 NC_000011.10:g.64831667= NC_000011.10:g.64831667C>T
GRCh37.p13 chr 11 NC_000011.9:g.64599139= NC_000011.9:g.64599139C>T
CDC42BPG transcript NM_017525.3:c.3142= NM_017525.3:c.3142G>A
CDC42BPG transcript NM_017525.2:c.3142= NM_017525.2:c.3142G>A
CDC42BPG transcript variant X1 XM_011545155.3:c.3196= XM_011545155.3:c.3196G>A
CDC42BPG transcript variant X3 XM_011545156.3:c.3175= XM_011545156.3:c.3175G>A
CDC42BPG transcript variant X7 XM_011545160.3:c.2902= XM_011545160.3:c.2902G>A
CDC42BPG transcript variant X4 XM_011545157.3:c.3196= XM_011545157.3:c.3196G>A
CDC42BPG transcript variant X5 XM_011545158.3:c.3196= XM_011545158.3:c.3196G>A
CDC42BPG transcript variant X6 XM_011545159.3:c.3196= XM_011545159.3:c.3196G>A
CDC42BPG transcript variant X9 XM_011545161.3:c.3196= XM_011545161.3:c.3196G>A
CDC42BPG transcript variant X11 XR_949988.3:n.3429= XR_949988.3:n.3429G>A
CDC42BPG transcript variant X2 XM_017017996.2:c.3193= XM_017017996.2:c.3193G>A
CDC42BPG transcript variant X8 XM_017017997.2:c.3196= XM_017017997.2:c.3196G>A
CDC42BPG transcript variant X13 XM_017017999.1:c.1084= XM_017017999.1:c.1084G>A
serine/threonine-protein kinase MRCK gamma NP_059995.2:p.Ala1048= NP_059995.2:p.Ala1048Thr
serine/threonine-protein kinase MRCK gamma isoform X1 XP_011543457.1:p.Ala1066= XP_011543457.1:p.Ala106...

XP_011543457.1:p.Ala1066Thr

serine/threonine-protein kinase MRCK gamma isoform X3 XP_011543458.1:p.Ala1059= XP_011543458.1:p.Ala105...

XP_011543458.1:p.Ala1059Thr

serine/threonine-protein kinase MRCK gamma isoform X7 XP_011543462.1:p.Ala968= XP_011543462.1:p.Ala968Thr
serine/threonine-protein kinase MRCK gamma isoform X4 XP_011543459.1:p.Ala1066= XP_011543459.1:p.Ala106...

XP_011543459.1:p.Ala1066Thr

serine/threonine-protein kinase MRCK gamma isoform X5 XP_011543460.1:p.Ala1066= XP_011543460.1:p.Ala106...

XP_011543460.1:p.Ala1066Thr

serine/threonine-protein kinase MRCK gamma isoform X6 XP_011543461.1:p.Ala1066= XP_011543461.1:p.Ala106...

XP_011543461.1:p.Ala1066Thr

serine/threonine-protein kinase MRCK gamma isoform X9 XP_011543463.1:p.Ala1066= XP_011543463.1:p.Ala106...

XP_011543463.1:p.Ala1066Thr

serine/threonine-protein kinase MRCK gamma isoform X2 XP_016873485.1:p.Ala1065= XP_016873485.1:p.Ala106...

XP_016873485.1:p.Ala1065Thr

serine/threonine-protein kinase MRCK gamma isoform X8 XP_016873486.1:p.Ala1066= XP_016873486.1:p.Ala106...

XP_016873486.1:p.Ala1066Thr

serine/threonine-protein kinase MRCK gamma isoform X11 XP_016873488.1:p.Ala362= XP_016873488.1:p.Ala362Thr
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#.

58 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15812007 Feb 27, 2004 (120)
2 SC_SNP ss18930142 Feb 27, 2004 (120)
3 CANCER-GENOME ss48533381 Mar 15, 2006 (126)
4 AFFY ss74806077 Aug 16, 2007 (128)
5 CNG ss98338715 Feb 06, 2009 (130)
6 1000GENOMES ss235591064 Jul 15, 2010 (132)
7 NHLBI-ESP ss342331067 May 09, 2011 (134)
8 1000GENOMES ss491021655 May 04, 2012 (137)
9 EXOME_CHIP ss491453508 May 04, 2012 (137)
10 CLINSEQ_SNP ss491647719 May 04, 2012 (137)
11 ILLUMINA ss534495665 Sep 08, 2015 (146)
12 ILLUMINA ss780899843 Sep 08, 2015 (146)
13 ILLUMINA ss783586810 Sep 08, 2015 (146)
14 EVA-GONL ss988608420 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1067524567 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1077791144 Aug 21, 2014 (142)
17 1000GENOMES ss1341611397 Aug 21, 2014 (142)
18 DDI ss1426658309 Apr 01, 2015 (144)
19 EVA_FINRISK ss1584075813 Apr 01, 2015 (144)
20 EVA_DECODE ss1598270487 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1626763853 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1669757886 Apr 01, 2015 (144)
23 EVA_EXAC ss1690450758 Apr 01, 2015 (144)
24 ILLUMINA ss1752026647 Sep 08, 2015 (146)
25 ILLUMINA ss1917861725 Feb 12, 2016 (147)
26 WEILL_CORNELL_DGM ss1931967050 Feb 12, 2016 (147)
27 ILLUMINA ss1946313188 Feb 12, 2016 (147)
28 ILLUMINA ss1959357043 Feb 12, 2016 (147)
29 JJLAB ss2026729738 Sep 14, 2016 (149)
30 USC_VALOUEV ss2155034035 Dec 20, 2016 (150)
31 HUMAN_LONGEVITY ss2183024541 Dec 20, 2016 (150)
32 TOPMED ss2346462414 Dec 20, 2016 (150)
33 GNOMAD ss2739096726 Nov 08, 2017 (151)
34 GNOMAD ss2748651078 Nov 08, 2017 (151)
35 GNOMAD ss2900621493 Nov 08, 2017 (151)
36 SWEGEN ss3008233188 Nov 08, 2017 (151)
37 ILLUMINA ss3021344512 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3027163258 Nov 08, 2017 (151)
39 TOPMED ss3147578867 Nov 08, 2017 (151)
40 CSHL ss3349638135 Nov 08, 2017 (151)
41 ILLUMINA ss3626675595 Oct 12, 2018 (152)
42 ILLUMINA ss3626675596 Oct 12, 2018 (152)
43 ILLUMINA ss3634458940 Oct 12, 2018 (152)
44 ILLUMINA ss3640166279 Oct 12, 2018 (152)
45 ILLUMINA ss3644565993 Oct 12, 2018 (152)
46 OMUKHERJEE_ADBS ss3646428010 Oct 12, 2018 (152)
47 ILLUMINA ss3651709396 Oct 12, 2018 (152)
48 ILLUMINA ss3651709397 Oct 12, 2018 (152)
49 EGCUT_WGS ss3675569528 Jul 13, 2019 (153)
50 EVA_DECODE ss3691949261 Jul 13, 2019 (153)
51 ILLUMINA ss3725248337 Jul 13, 2019 (153)
52 ACPOP ss3738250362 Jul 13, 2019 (153)
53 ILLUMINA ss3744382432 Jul 13, 2019 (153)
54 ILLUMINA ss3744759784 Jul 13, 2019 (153)
55 EVA ss3749398911 Jul 13, 2019 (153)
56 PAGE_CC ss3771630284 Jul 13, 2019 (153)
57 ILLUMINA ss3772259713 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3814741401 Jul 13, 2019 (153)
59 1000Genomes NC_000011.9 - 64599139 Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 64599139 Oct 12, 2018 (152)
61 Genetic variation in the Estonian population NC_000011.9 - 64599139 Oct 12, 2018 (152)
62 ExAC NC_000011.9 - 64599139 Oct 12, 2018 (152)
63 gnomAD - Genomes NC_000011.9 - 64599139 Jul 13, 2019 (153)
64 gnomAD - Exomes NC_000011.9 - 64599139 Jul 13, 2019 (153)
65 GO Exome Sequencing Project NC_000011.9 - 64599139 Oct 12, 2018 (152)
66 Northern Sweden NC_000011.9 - 64599139 Jul 13, 2019 (153)
67 The PAGE Study NC_000011.10 - 64831667 Jul 13, 2019 (153)
68 TopMed NC_000011.10 - 64831667 Oct 12, 2018 (152)
69 UK 10K study - Twins NC_000011.9 - 64599139 Oct 12, 2018 (152)
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).

Associated ID History Updated (Build)
rs52826632 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491647719, ss1598270487 NC_000011.8:64355714:C:T NC_000011.10:64831666:C:T (self)
54145508, 30065217, 21307776, 712629, 147864717, 8313559, 1091301, 11535227, 30065217, ss235591064, ss342331067, ss491021655, ss491453508, ss534495665, ss780899843, ss783586810, ss988608420, ss1067524567, ss1077791144, ss1341611397, ss1426658309, ss1584075813, ss1626763853, ss1669757886, ss1690450758, ss1752026647, ss1917861725, ss1931967050, ss1946313188, ss1959357043, ss2026729738, ss2155034035, ss2346462414, ss2739096726, ss2748651078, ss2900621493, ss3008233188, ss3021344512, ss3349638135, ss3626675595, ss3626675596, ss3634458940, ss3640166279, ss3644565993, ss3646428010, ss3651709396, ss3651709397, ss3675569528, ss3738250362, ss3744382432, ss3744759784, ss3749398911, ss3772259713 NC_000011.9:64599138:C:T NC_000011.10:64831666:C:T (self)
851753, 65117033, ss2183024541, ss3027163258, ss3147578867, ss3691949261, ss3725248337, ss3771630284, ss3814741401 NC_000011.10:64831666:C:T NC_000011.10:64831666:C:T (self)
ss15812007, ss18930142 NT_033903.6:9772180:C:T NC_000011.10:64831666:C:T (self)
ss48533381, ss74806077, ss98338715 NT_167190.1:9904933:C:T NC_000011.10:64831666:C:T (self)
Help

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

No publications for rs11231887

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.post308+0fe9b3b