Skip to main page content
Accesskeys

dbSNP Short Genetic Variations

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.

rs11540654

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr17:7676040 (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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00005 (12/246078, GnomAD)
T=0.00005 (6/125568, TOPMED)
T=0.0000 (1/30942, GnomAD) (+ 1 more)
T=0.001 (3/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TP53 : Missense Variant
Publications
7 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 17 NC_000017.11:g.7676040C>A
GRCh38.p12 chr 17 NC_000017.11:g.7676040C>G
GRCh38.p12 chr 17 NC_000017.11:g.7676040C>T
GRCh37.p13 chr 17 NC_000017.10:g.7579358C>A
GRCh37.p13 chr 17 NC_000017.10:g.7579358C>G
GRCh37.p13 chr 17 NC_000017.10:g.7579358C>T
TP53 RefSeqGene (LRG_321) NG_017013.2:g.16511G>T
TP53 RefSeqGene (LRG_321) NG_017013.2:g.16511G>C
TP53 RefSeqGene (LRG_321) NG_017013.2:g.16511G>A
Gene: TP53, tumor protein p53 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TP53 transcript variant 5 NM_001126115.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 6 NM_001126116.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 7 NM_001126117.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 5 NM_001276697.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 6 NM_001276698.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 7 NM_001276699.1:c. N/A Genic Upstream Transcript Variant
TP53 transcript variant 1 NM_000546.5:c.329G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Arg110Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 1 NM_000546.5:c.329G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Arg110Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 1 NM_000546.5:c.329G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Arg110His R (Arg) > H (His) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.329G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Arg110Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.329G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Arg110Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.329G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Arg110His R (Arg) > H (His) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.329G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Arg110Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.329G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Arg110Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.329G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Arg110His R (Arg) > H (His) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.329G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Arg110Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.329G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Arg110Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.329G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Arg110His R (Arg) > H (His) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.212G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Arg71Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.212G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Arg71Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.212G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Arg71His R (Arg) > H (His) Missense Variant
TP53 transcript variant 1 NM_001276760.1:c.212G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Arg71Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 1 NM_001276760.1:c.212G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Arg71Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 1 NM_001276760.1:c.212G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Arg71His R (Arg) > H (His) Missense Variant
TP53 transcript variant 2 NM_001276761.1:c.212G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Arg71Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 2 NM_001276761.1:c.212G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Arg71Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 2 NM_001276761.1:c.212G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Arg71His R (Arg) > H (His) Missense Variant
TP53 transcript variant 4 NM_001276695.1:c.212G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Arg71Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 4 NM_001276695.1:c.212G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Arg71Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 4 NM_001276695.1:c.212G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Arg71His R (Arg) > H (His) Missense Variant
TP53 transcript variant 3 NM_001276696.1:c.212G>T R [CGT] > L [CTT] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Arg71Leu R (Arg) > L (Leu) Missense Variant
TP53 transcript variant 3 NM_001276696.1:c.212G>C R [CGT] > P [CCT] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Arg71Pro R (Arg) > P (Pro) Missense Variant
TP53 transcript variant 3 NM_001276696.1:c.212G>A R [CGT] > H [CAT] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Arg71His R (Arg) > H (His) 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: A (allele ID: 402569 )
ClinVar Accession Disease Names Clinical Significance
RCV000473145.3 Li-Fraumeni syndrome Pathogenic
RCV000492590.2 Hereditary cancer-predisposing syndrome Likely-Pathogenic
Allele: G (allele ID: 236497 )
ClinVar Accession Disease Names Clinical Significance
RCV000222678.1 Hereditary cancer-predisposing syndrome Likely-Pathogenic
RCV000231991.4 Li-Fraumeni syndrome Pathogenic
Allele: T (allele ID: 133265 )
ClinVar Accession Disease Names Clinical Significance
RCV000115719.7 Hereditary cancer-predisposing syndrome Uncertain-Significance
RCV000122182.3 not specified Not-Provided
RCV000228299.3 Li-Fraumeni syndrome Uncertain-Significance
RCV000409407.1 Li-Fraumeni syndrome 1 Uncertain-Significance
RCV000589869.1 not provided Uncertain-Significance
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 246078 C=0.99995 T=0.00005, A=0.00000
gnomAD - Exomes European Sub 133864 C=0.99996 T=0.00004, A=0.00000
gnomAD - Exomes Asian Sub 48022 C=0.9999 T=0.0001, A=0.0000
gnomAD - Exomes American Sub 33578 C=0.9999 T=0.0001, A=0.0000
gnomAD - Exomes African Sub 15294 C=1.0000 T=0.0000, A=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 9842 C=1.000 T=0.000, A=0.000
gnomAD - Exomes Other Sub 5478 C=1.000 T=0.000, A=0.000
TopMed Global Study-wide 125568 C=0.99995 T=0.00005
gnomAD - Genomes Global Study-wide 30942 C=1.0000 T=0.0000
gnomAD - Genomes European Sub 18494 C=1.0000 T=0.0000
gnomAD - Genomes African Sub 8714 C=1.000 T=0.000
gnomAD - Genomes East Asian Sub 1616 C=1.000 T=0.000
gnomAD - Genomes Other Sub 978 C=1.00 T=0.00
gnomAD - Genomes American Sub 838 C=1.00 T=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 302 C=1.00 T=0.00
1000Genomes Global Study-wide 5008 C=0.999 T=0.001
1000Genomes African Sub 1322 C=1.000 T=0.000
1000Genomes East Asian Sub 1008 C=0.997 T=0.003
1000Genomes Europe Sub 1006 C=1.000 T=0.000
1000Genomes South Asian Sub 978 C=1.00 T=0.00
1000Genomes American Sub 694 C=1.00 T=0.00
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= A G T Note
GRCh38.p12 chr 17 NC_000017.11:...

NC_000017.11:g.7676040C=

NC_000017.11:...

NC_000017.11:g.7676040C>A

NC_000017.11:...

NC_000017.11:g.7676040C>G

NC_000017.11:...

NC_000017.11:g.7676040C>T

GRCh37.p13 chr 17 NC_000017.10:...

NC_000017.10:g.7579358C=

NC_000017.10:...

NC_000017.10:g.7579358C>A

NC_000017.10:...

NC_000017.10:g.7579358C>G

NC_000017.10:...

NC_000017.10:g.7579358C>T

TP53 RefSeqGene (LRG_321) NG_017013.2:g...

NG_017013.2:g.16511G=

NG_017013.2:g...

NG_017013.2:g.16511G>T

NG_017013.2:g...

NG_017013.2:g.16511G>C

NG_017013.2:g...

NG_017013.2:g.16511G>A

TP53 transcript variant 1 NM_000546.5:c...

NM_000546.5:c.329G=

NM_000546.5:c...

NM_000546.5:c.329G>T

NM_000546.5:c...

NM_000546.5:c.329G>C

NM_000546.5:c...

NM_000546.5:c.329G>A

TP53 transcript variant 3 NM_001126114....

NM_001126114.2:c.329G=

NM_001126114....

NM_001126114.2:c.329G>T

NM_001126114....

NM_001126114.2:c.329G>C

NM_001126114....

NM_001126114.2:c.329G>A

TP53 transcript variant 4 NM_001126113....

NM_001126113.2:c.329G=

NM_001126113....

NM_001126113.2:c.329G>T

NM_001126113....

NM_001126113.2:c.329G>C

NM_001126113....

NM_001126113.2:c.329G>A

TP53 transcript variant 2 NM_001126112....

NM_001126112.2:c.329G=

NM_001126112....

NM_001126112.2:c.329G>T

NM_001126112....

NM_001126112.2:c.329G>C

NM_001126112....

NM_001126112.2:c.329G>A

TP53 transcript variant 3 NM_001276696....

NM_001276696.1:c.212G=

NM_001276696....

NM_001276696.1:c.212G>T

NM_001276696....

NM_001276696.1:c.212G>C

NM_001276696....

NM_001276696.1:c.212G>A

TP53 transcript variant 8 NM_001126118....

NM_001126118.1:c.212G=

NM_001126118....

NM_001126118.1:c.212G>T

NM_001126118....

NM_001126118.1:c.212G>C

NM_001126118....

NM_001126118.1:c.212G>A

TP53 transcript variant 4 NM_001276695....

NM_001276695.1:c.212G=

NM_001276695....

NM_001276695.1:c.212G>T

NM_001276695....

NM_001276695.1:c.212G>C

NM_001276695....

NM_001276695.1:c.212G>A

TP53 transcript variant 1 NM_001276760....

NM_001276760.1:c.212G=

NM_001276760....

NM_001276760.1:c.212G>T

NM_001276760....

NM_001276760.1:c.212G>C

NM_001276760....

NM_001276760.1:c.212G>A

TP53 transcript variant 2 NM_001276761....

NM_001276761.1:c.212G=

NM_001276761....

NM_001276761.1:c.212G>T

NM_001276761....

NM_001276761.1:c.212G>C

NM_001276761....

NM_001276761.1:c.212G>A

cellular tumor antigen p53 isoform a NP_000537.3:p...

NP_000537.3:p.Arg110=

NP_000537.3:p...

NP_000537.3:p.Arg110Leu

NP_000537.3:p...

NP_000537.3:p.Arg110Pro

NP_000537.3:p...

NP_000537.3:p.Arg110His

cellular tumor antigen p53 isoform b NP_001119586....

NP_001119586.1:p.Arg110=

NP_001119586....

NP_001119586.1:p.Arg110Leu

NP_001119586....

NP_001119586.1:p.Arg110Pro

NP_001119586....

NP_001119586.1:p.Arg110His

cellular tumor antigen p53 isoform c NP_001119585....

NP_001119585.1:p.Arg110=

NP_001119585....

NP_001119585.1:p.Arg110Leu

NP_001119585....

NP_001119585.1:p.Arg110Pro

NP_001119585....

NP_001119585.1:p.Arg110His

cellular tumor antigen p53 isoform a NP_001119584....

NP_001119584.1:p.Arg110=

NP_001119584....

NP_001119584.1:p.Arg110Leu

NP_001119584....

NP_001119584.1:p.Arg110Pro

NP_001119584....

NP_001119584.1:p.Arg110His

cellular tumor antigen p53 isoform i NP_001263625....

NP_001263625.1:p.Arg71=

NP_001263625....

NP_001263625.1:p.Arg71Leu

NP_001263625....

NP_001263625.1:p.Arg71Pro

NP_001263625....

NP_001263625.1:p.Arg71His

cellular tumor antigen p53 isoform g NP_001119590....

NP_001119590.1:p.Arg71=

NP_001119590....

NP_001119590.1:p.Arg71Leu

NP_001119590....

NP_001119590.1:p.Arg71Pro

NP_001119590....

NP_001119590.1:p.Arg71His

cellular tumor antigen p53 isoform h NP_001263624....

NP_001263624.1:p.Arg71=

NP_001263624....

NP_001263624.1:p.Arg71Leu

NP_001263624....

NP_001263624.1:p.Arg71Pro

NP_001263624....

NP_001263624.1:p.Arg71His

cellular tumor antigen p53 isoform g NP_001263689....

NP_001263689.1:p.Arg71=

NP_001263689....

NP_001263689.1:p.Arg71Leu

NP_001263689....

NP_001263689.1:p.Arg71Pro

NP_001263689....

NP_001263689.1:p.Arg71His

cellular tumor antigen p53 isoform g NP_001263690....

NP_001263690.1:p.Arg71=

NP_001263690....

NP_001263690.1:p.Arg71Leu

NP_001263690....

NP_001263690.1:p.Arg71Pro

NP_001263690....

NP_001263690.1:p.Arg71His

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#.

17 SubSNP, 6 Frequency, 9 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss16228602 Feb 28, 2004 (120)
2 SNP500CANCER ss48297350 Mar 15, 2006 (126)
3 1000GENOMES ss1357813384 Aug 21, 2014 (142)
4 CLINVAR ss1457610877 Nov 23, 2014 (142)
5 EVA_EXAC ss1692579880 Apr 01, 2015 (144)
6 EVA_EXAC ss1692579881 Apr 01, 2015 (144)
7 HUMAN_LONGEVITY ss2215319661 Dec 20, 2016 (150)
8 TOPMED ss2380167959 Dec 20, 2016 (150)
9 GNOMAD ss2742410519 Nov 08, 2017 (151)
10 GNOMAD ss2749679877 Nov 08, 2017 (151)
11 GNOMAD ss2947436370 Nov 08, 2017 (151)
12 ILLUMINA ss3021752316 Nov 08, 2017 (151)
13 ILLUMINA ss3021752317 Nov 08, 2017 (151)
14 TOPMED ss3256688337 Nov 08, 2017 (151)
15 TOPMED ss3256688338 Nov 08, 2017 (151)
16 ILLUMINA ss3652165131 Oct 12, 2018 (152)
17 ILLUMINA ss3652165132 Oct 12, 2018 (152)
18 1000Genomes NC_000017.10 - 7579358 Oct 12, 2018 (152)
19 ExAC

Submission ignored due to conflicting rows:
Row 3007653 (NC_000017.10:7579357:C:C 120874/120880, NC_000017.10:7579357:C:T 6/120880)
Row 3007654 (NC_000017.10:7579357:C:C 120878/120880, NC_000017.10:7579357:C:A 2/120880)

- Oct 12, 2018 (152)
20 ExAC

Submission ignored due to conflicting rows:
Row 3007653 (NC_000017.10:7579357:C:C 120874/120880, NC_000017.10:7579357:C:T 6/120880)
Row 3007654 (NC_000017.10:7579357:C:C 120878/120880, NC_000017.10:7579357:C:A 2/120880)

- Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000017.10 - 7579358 Oct 12, 2018 (152)
22 gnomAD - Exomes NC_000017.10 - 7579358 Oct 12, 2018 (152)
23 TopMed NC_000017.11 - 7676040 Oct 12, 2018 (152)
24 ClinVar RCV000115719.7 Oct 12, 2018 (152)
25 ClinVar RCV000122182.3 Oct 12, 2018 (152)
26 ClinVar RCV000222678.1 Oct 12, 2018 (152)
27 ClinVar RCV000228299.3 Oct 12, 2018 (152)
28 ClinVar RCV000231991.4 Oct 12, 2018 (152)
29 ClinVar RCV000409407.1 Oct 12, 2018 (152)
30 ClinVar RCV000473145.3 Oct 12, 2018 (152)
31 ClinVar RCV000492590.2 Oct 12, 2018 (152)
32 ClinVar RCV000589869.1 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).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
71024049, 81137898, 9224327, ss1357813384, ss1692579880, ss1692579881, ss2380167959, ss2742410519, ss2749679877, ss2947436370, ss3021752316, ss3021752317, ss3652165131, ss3652165132 NC_000017.10:7579357:C= NC_000017.11:7676039:C= (self)
152406252, ss1457610877, ss2215319661, ss3256688337, ss3256688338 NC_000017.11:7676039:C= NC_000017.11:7676039:C= (self)
ss16228602, ss48297350 NT_010718.16:7182731:C= NC_000017.11:7676039:C= (self)
9224327, ss1692579881, ss2742410519, ss3021752316, ss3652165131 NC_000017.10:7579357:C>A NC_000017.11:7676039:C>A (self)
RCV000473145.3, RCV000492590.2, ss3256688337 NC_000017.11:7676039:C>A NC_000017.11:7676039:C>A (self)
ss16228602, ss48297350 NT_010718.16:7182731:C>A NC_000017.11:7676039:C>A (self)
RCV000222678.1, RCV000231991.4 NC_000017.11:7676039:C>G NC_000017.11:7676039:C>G
ss48297350 NT_010718.16:7182731:C>G NC_000017.11:7676039:C>G (self)
71024049, 81137898, 9224327, ss1357813384, ss1692579880, ss2380167959, ss2742410519, ss2749679877, ss2947436370, ss3021752317, ss3652165132 NC_000017.10:7579357:C>T NC_000017.11:7676039:C>T (self)
RCV000115719.7, RCV000122182.3, RCV000228299.3, RCV000409407.1, RCV000589869.1, 152406252, ss1457610877, ss2215319661, ss3256688338 NC_000017.11:7676039:C>T NC_000017.11:7676039: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.

7 citations for rs11540654
PMID Title Author Year Journal
12726864 p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis. Bergamaschi D et al. 2003 Cancer cell
18798306 Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population. Pangilinan F et al. 2008 American journal of medical genetics. Part A
23580068 Prevalence of germline TP53 mutations in HER2+ breast cancer patients. Rath MG et al. 2013 Breast cancer research and treatment
24113472 SF3B1 mutations correlated to cytogenetics and mutations in NOTCH1, FBXW7, MYD88, XPO1 and TP53 in 1160 untreated CLL patients. Jeromin S et al. 2014 Leukemia
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 PloS one
25105660 Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene. Chitrala KN et al. 2014 PloS one
26206375 GESPA: classifying nsSNPs to predict disease association. Khurana JK et al. 2015 BMC bioinformatics

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.post104+4a6ee9c