Name: rs2602141
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.

rs2602141

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:43432448 (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>A / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.335253 (123668/368880, ALFA)
G=0.489199 (129486/264690, TOPMED)
G=0.363210 (91322/251430, GnomAD_exome) (+ 27 more)
G=0.466930 (65373/140006, GnomAD)
G=0.375039 (45523/121382, ExAC)
T=0.42512 (33457/78700, PAGE_STUDY)
G=0.39702 (11219/28258, 14KJPN)
G=0.39922 (6691/16760, 8.3KJPN)
G=0.48361 (6286/12998, GO-ESP)
T=0.4669 (2990/6404, 1000G_30x)
T=0.4736 (2372/5008, 1000G)
G=0.2433 (1090/4480, Estonian)
G=0.3049 (1175/3854, ALSPAC)
G=0.2961 (1098/3708, TWINSUK)
G=0.4573 (1340/2930, KOREAN)
G=0.4597 (958/2084, HGDP_Stanford)
T=0.4095 (774/1890, HapMap)
G=0.4428 (503/1136, Daghestan)
G=0.333 (332/998, GoNL)
G=0.423 (334/790, PRJEB37584)
G=0.240 (150/626, Chileans)
G=0.353 (216/612, Vietnamese)
G=0.328 (197/600, NorthernSweden)
G=0.341 (182/534, MGP)
T=0.291 (110/378, SGDP_PRJ)
G=0.174 (53/304, FINRISK)
G=0.440 (95/216, Qatari)
G=0.41 (34/82, Ancient Sardinia)
G=0.30 (12/40, GENOME_DK)
T=0.43 (12/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TP53BP1 : Stop Gained
Publications: 9 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	385360	T=0.658864	G=0.341136
European	Sub	320426	T=0.690730	G=0.309270
African	Sub	17232	T=0.16481	G=0.83519
African Others	Sub	606	T=0.040	G=0.960
African American	Sub	16626	T=0.16937	G=0.83063
Asian	Sub	6978	T=0.5744	G=0.4256
East Asian	Sub	4978	T=0.5691	G=0.4309
Other Asian	Sub	2000	T=0.5875	G=0.4125
Latin American 1	Sub	1634	T=0.5080	G=0.4920
Latin American 2	Sub	9404	T=0.6867	G=0.3133
South Asian	Sub	5236	T=0.5533	G=0.4467
Other	Sub	24450	T=0.63554	G=0.36446

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
Allele Frequency Aggregator	Total	Global	368880	T=0.664747	G=0.335253
Allele Frequency Aggregator	European	Sub	310232	T=0.690654	G=0.309346
Allele Frequency Aggregator	Other	Sub	23000	T=0.63704	G=0.36296
Allele Frequency Aggregator	African	Sub	12396	T=0.16973	G=0.83027
Allele Frequency Aggregator	Latin American 2	Sub	9404	T=0.6867	G=0.3133
Allele Frequency Aggregator	Asian	Sub	6978	T=0.5744	G=0.4256
Allele Frequency Aggregator	South Asian	Sub	5236	T=0.5533	G=0.4467
Allele Frequency Aggregator	Latin American 1	Sub	1634	T=0.5080	G=0.4920
TopMed	Global	Study-wide	264690	T=0.510801	G=0.489199
gnomAD - Exomes	Global	Study-wide	251430	T=0.636790	G=0.363210
gnomAD - Exomes	European	Sub	135362	T=0.713140	G=0.286860
gnomAD - Exomes	Asian	Sub	49006	T=0.56365	G=0.43635
gnomAD - Exomes	American	Sub	34588	T=0.68180	G=0.31820
gnomAD - Exomes	African	Sub	16256	T=0.14112	G=0.85888
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	T=0.59464	G=0.40536
gnomAD - Exomes	Other	Sub	6138	T=0.6654	G=0.3346
gnomAD - Genomes	Global	Study-wide	140006	T=0.533070	G=0.466930
gnomAD - Genomes	European	Sub	75814	T=0.71757	G=0.28243
gnomAD - Genomes	African	Sub	41988	T=0.15319	G=0.84681
gnomAD - Genomes	American	Sub	13616	T=0.63844	G=0.36156
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.5974	G=0.4026
gnomAD - Genomes	East Asian	Sub	3124	T=0.5970	G=0.4030
gnomAD - Genomes	Other	Sub	2148	T=0.5866	G=0.4134
ExAC	Global	Study-wide	121382	T=0.624961	G=0.375039
ExAC	Europe	Sub	73346	T=0.70471	G=0.29529
ExAC	Asian	Sub	25152	T=0.55964	G=0.44036
ExAC	American	Sub	11570	T=0.68669	G=0.31331
ExAC	African	Sub	10406	T=0.14818	G=0.85182
ExAC	Other	Sub	908	T=0.670	G=0.330
The PAGE Study	Global	Study-wide	78700	T=0.42512	G=0.57488
The PAGE Study	AfricanAmerican	Sub	32516	T=0.16896	G=0.83104
The PAGE Study	Mexican	Sub	10808	T=0.67959	G=0.32041
The PAGE Study	Asian	Sub	8318	T=0.6088	G=0.3912
The PAGE Study	PuertoRican	Sub	7918	T=0.5572	G=0.4428
The PAGE Study	NativeHawaiian	Sub	4534	T=0.6603	G=0.3397
The PAGE Study	Cuban	Sub	4230	T=0.5726	G=0.4274
The PAGE Study	Dominican	Sub	3828	T=0.3939	G=0.6061
The PAGE Study	CentralAmerican	Sub	2450	T=0.6278	G=0.3722
The PAGE Study	SouthAmerican	Sub	1982	T=0.6942	G=0.3058
The PAGE Study	NativeAmerican	Sub	1260	T=0.6500	G=0.3500
The PAGE Study	SouthAsian	Sub	856	T=0.567	G=0.433
14KJPN	JAPANESE	Study-wide	28258	T=0.60298	G=0.39702
8.3KJPN	JAPANESE	Study-wide	16760	T=0.60078	G=0.39922
GO Exome Sequencing Project	Global	Study-wide	12998	T=0.51639	G=0.48361
GO Exome Sequencing Project	European American	Sub	8596	T=0.6964	G=0.3036
GO Exome Sequencing Project	African American	Sub	4402	T=0.1649	G=0.8351
1000Genomes_30x	Global	Study-wide	6404	T=0.4669	G=0.5331
1000Genomes_30x	African	Sub	1786	T=0.0381	G=0.9619
1000Genomes_30x	Europe	Sub	1266	T=0.7006	G=0.2994
1000Genomes_30x	South Asian	Sub	1202	T=0.5458	G=0.4542
1000Genomes_30x	East Asian	Sub	1170	T=0.6120	G=0.3880
1000Genomes_30x	American	Sub	980	T=0.677	G=0.323
1000Genomes	Global	Study-wide	5008	T=0.4736	G=0.5264
1000Genomes	African	Sub	1322	T=0.0416	G=0.9584
1000Genomes	East Asian	Sub	1008	T=0.6131	G=0.3869
1000Genomes	Europe	Sub	1006	T=0.6968	G=0.3032
1000Genomes	South Asian	Sub	978	T=0.544	G=0.456
1000Genomes	American	Sub	694	T=0.671	G=0.329
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7567	G=0.2433
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6951	G=0.3049
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7039	G=0.2961
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5427	A=0.0000, G=0.4573
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.5403	G=0.4597
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.615	G=0.385
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.563	G=0.437
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.546	G=0.454
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.656	G=0.344
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.017	G=0.983
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.755	G=0.245
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.50	G=0.50
HapMap	Global	Study-wide	1890	T=0.4095	G=0.5905
HapMap	American	Sub	768	T=0.566	G=0.434
HapMap	African	Sub	692	T=0.105	G=0.895
HapMap	Asian	Sub	254	T=0.602	G=0.398
HapMap	Europe	Sub	176	T=0.642	G=0.358
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.5572	G=0.4428
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.573	G=0.427
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.486	G=0.514
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.500	G=0.500
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.667	G=0.333
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.50	G=0.50
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.58	G=0.42
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.667	G=0.333
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.577	G=0.423
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.577	G=0.423
Chileans	Chilean	Study-wide	626	T=0.760	G=0.240
A Vietnamese Genetic Variation Database	Global	Study-wide	612	T=0.647	G=0.353
Northern Sweden	ACPOP	Study-wide	600	T=0.672	G=0.328
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.659	G=0.341
SGDP_PRJ	Global	Study-wide	378	T=0.291	G=0.709
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.826	G=0.174
Qatari	Global	Study-wide	216	T=0.560	G=0.440
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	82	T=0.59	G=0.41
The Danish reference pan genome	Danish	Study-wide	40	T=0.70	G=0.30
Siberian	Global	Study-wide	28	T=0.43	G=0.57

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 15	NC_000015.10:g.43432448T>A
GRCh38.p14 chr 15	NC_000015.10:g.43432448T>G
GRCh37.p13 chr 15	NC_000015.9:g.43724646T>A
GRCh37.p13 chr 15	NC_000015.9:g.43724646T>G

Gene: TP53BP1, tumor protein p53 binding protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TP53BP1 transcript variant 3	NM_005657.4:c.3406A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 3	NP_005648.1:p.Lys1136Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant 3	NM_005657.4:c.3406A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 3	NP_005648.1:p.Lys1136Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant 1	NM_001141980.3:c.3421A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 1	NP_001135452.1:p.Lys1141T… NP_001135452.1:p.Lys1141Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant 1	NM_001141980.3:c.3421A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 1	NP_001135452.1:p.Lys1141G… NP_001135452.1:p.Lys1141Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant 2	NM_001141979.3:c.3421A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 2	NP_001135451.1:p.Lys1141T… NP_001135451.1:p.Lys1141Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant 2	NM_001141979.3:c.3421A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 2	NP_001135451.1:p.Lys1141G… NP_001135451.1:p.Lys1141Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant 4	NM_001355001.2:c.541A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 4	NP_001341930.1:p.Lys181Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant 4	NM_001355001.2:c.541A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform 4	NP_001341930.1:p.Lys181Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant X6	XM_047432999.1:c.3192-428… XM_047432999.1:c.3192-4280A>T	N/A	Intron Variant
TP53BP1 transcript variant X1	XM_047432994.1:c.3421A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X1	XP_047288950.1:p.Lys1141T… XP_047288950.1:p.Lys1141Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant X1	XM_047432994.1:c.3421A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X1	XP_047288950.1:p.Lys1141G… XP_047288950.1:p.Lys1141Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant X2	XM_047432995.1:c.3421A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X1	XP_047288951.1:p.Lys1141T… XP_047288951.1:p.Lys1141Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant X2	XM_047432995.1:c.3421A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X1	XP_047288951.1:p.Lys1141G… XP_047288951.1:p.Lys1141Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant X3	XM_047432996.1:c.3421A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X2	XP_047288952.1:p.Lys1141T… XP_047288952.1:p.Lys1141Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant X3	XM_047432996.1:c.3421A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X2	XP_047288952.1:p.Lys1141G… XP_047288952.1:p.Lys1141Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant X3	XM_047432997.1:c.3421A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X2	XP_047288953.1:p.Lys1141T… XP_047288953.1:p.Lys1141Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant X3	XM_047432997.1:c.3421A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X2	XP_047288953.1:p.Lys1141G… XP_047288953.1:p.Lys1141Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant X4	XM_047432998.1:c.3421A>T	K [AAG] > * [TAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X3	XP_047288954.1:p.Lys1141T… XP_047288954.1:p.Lys1141Ter	K (Lys) > * (Ter)	Stop Gained
TP53BP1 transcript variant X4	XM_047432998.1:c.3421A>C	K [AAG] > Q [CAG]	Coding Sequence Variant
TP53-binding protein 1 isoform X3	XP_047288954.1:p.Lys1141G… XP_047288954.1:p.Lys1141Gln	K (Lys) > Q (Gln)	Missense Variant
TP53BP1 transcript variant X5	XR_007064488.1:n.4045A>T	N/A	Non Coding Transcript Variant
TP53BP1 transcript variant X5	XR_007064488.1:n.4045A>C	N/A	Non Coding 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=	A	G
GRCh38.p14 chr 15	NC_000015.10:g.43432448=	NC_000015.10:g.43432448T>A	NC_000015.10:g.43432448T>G
GRCh37.p13 chr 15	NC_000015.9:g.43724646=	NC_000015.9:g.43724646T>A	NC_000015.9:g.43724646T>G
TP53BP1 transcript variant 3	NM_005657.4:c.3406=	NM_005657.4:c.3406A>T	NM_005657.4:c.3406A>C
TP53BP1 transcript variant 3	NM_005657.3:c.3406=	NM_005657.3:c.3406A>T	NM_005657.3:c.3406A>C
TP53BP1 transcript variant 3	NM_005657.2:c.3406=	NM_005657.2:c.3406A>T	NM_005657.2:c.3406A>C
TP53BP1 transcript variant 1	NM_001141980.3:c.3421=	NM_001141980.3:c.3421A>T	NM_001141980.3:c.3421A>C
TP53BP1 transcript variant 1	NM_001141980.2:c.3421=	NM_001141980.2:c.3421A>T	NM_001141980.2:c.3421A>C
TP53BP1 transcript variant 1	NM_001141980.1:c.3421=	NM_001141980.1:c.3421A>T	NM_001141980.1:c.3421A>C
TP53BP1 transcript variant 2	NM_001141979.3:c.3421=	NM_001141979.3:c.3421A>T	NM_001141979.3:c.3421A>C
TP53BP1 transcript variant 2	NM_001141979.2:c.3421=	NM_001141979.2:c.3421A>T	NM_001141979.2:c.3421A>C
TP53BP1 transcript variant 2	NM_001141979.1:c.3421=	NM_001141979.1:c.3421A>T	NM_001141979.1:c.3421A>C
TP53BP1 transcript variant 4	NM_001355001.2:c.541=	NM_001355001.2:c.541A>T	NM_001355001.2:c.541A>C
TP53BP1 transcript variant 4	NM_001355001.1:c.541=	NM_001355001.1:c.541A>T	NM_001355001.1:c.541A>C
TP53BP1 transcript variant X2	XM_047432995.1:c.3421=	XM_047432995.1:c.3421A>T	XM_047432995.1:c.3421A>C
TP53BP1 transcript variant X1	XM_047432994.1:c.3421=	XM_047432994.1:c.3421A>T	XM_047432994.1:c.3421A>C
TP53BP1 transcript variant X3	XM_047432996.1:c.3421=	XM_047432996.1:c.3421A>T	XM_047432996.1:c.3421A>C
TP53BP1 transcript variant 5	NM_001411050.1:c.3421=	NM_001411050.1:c.3421A>T	NM_001411050.1:c.3421A>C
TP53BP1 transcript variant X3	XM_047432997.1:c.3421=	XM_047432997.1:c.3421A>T	XM_047432997.1:c.3421A>C
TP53BP1 transcript variant X4	XM_047432998.1:c.3421=	XM_047432998.1:c.3421A>T	XM_047432998.1:c.3421A>C
TP53BP1 transcript variant X5	XR_007064488.1:n.4045=	XR_007064488.1:n.4045A>T	XR_007064488.1:n.4045A>C
TP53-binding protein 1 isoform 3	NP_005648.1:p.Lys1136=	NP_005648.1:p.Lys1136Ter	NP_005648.1:p.Lys1136Gln
TP53-binding protein 1 isoform 1	NP_001135452.1:p.Lys1141=	NP_001135452.1:p.Lys1141Ter	NP_001135452.1:p.Lys1141Gln
TP53-binding protein 1 isoform 2	NP_001135451.1:p.Lys1141=	NP_001135451.1:p.Lys1141Ter	NP_001135451.1:p.Lys1141Gln
TP53-binding protein 1 isoform 4	NP_001341930.1:p.Lys181=	NP_001341930.1:p.Lys181Ter	NP_001341930.1:p.Lys181Gln
TP53-binding protein 1 isoform X1	XP_047288951.1:p.Lys1141=	XP_047288951.1:p.Lys1141Ter	XP_047288951.1:p.Lys1141Gln
TP53-binding protein 1 isoform X1	XP_047288950.1:p.Lys1141=	XP_047288950.1:p.Lys1141Ter	XP_047288950.1:p.Lys1141Gln
TP53-binding protein 1 isoform X2	XP_047288952.1:p.Lys1141=	XP_047288952.1:p.Lys1141Ter	XP_047288952.1:p.Lys1141Gln
TP53-binding protein 1 isoform X2	XP_047288953.1:p.Lys1141=	XP_047288953.1:p.Lys1141Ter	XP_047288953.1:p.Lys1141Gln
TP53-binding protein 1 isoform X3	XP_047288954.1:p.Lys1141=	XP_047288954.1:p.Lys1141Ter	XP_047288954.1:p.Lys1141Gln
TP53BP1 transcript variant X6	XM_047432999.1:c.3192-4280=	XM_047432999.1:c.3192-4280A>T	XM_047432999.1:c.3192-4280A>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#.

192 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3660288	Sep 28, 2001 (100)
2	YUSUKE	ss4989725	Aug 28, 2002 (108)
3	WI_SSAHASNP	ss12325571	Jul 11, 2003 (116)
4	PERLEGEN	ss23963734	Sep 20, 2004 (123)
5	ICRCG	ss37042818	May 24, 2005 (125)
6	ABI	ss43696418	Mar 13, 2006 (126)
7	SNP500CANCER	ss48297357	Mar 13, 2006 (126)
8	APPLERA_GI	ss48404592	Mar 13, 2006 (126)
9	ILLUMINA	ss65727060	Oct 15, 2006 (127)
10	AFFY	ss66270005	Nov 30, 2006 (127)
11	ILLUMINA	ss66582644	Nov 30, 2006 (127)
12	ILLUMINA	ss67263058	Nov 30, 2006 (127)
13	ILLUMINA	ss67662499	Nov 30, 2006 (127)
14	PERLEGEN	ss69174894	May 17, 2007 (127)
15	EGP_SNPS	ss70454026	May 17, 2007 (127)
16	ILLUMINA	ss70741446	May 24, 2008 (130)
17	ILLUMINA	ss71312452	May 17, 2007 (127)
18	ILLUMINA	ss74949883	Dec 06, 2007 (129)
19	AFFY	ss76414825	Dec 06, 2007 (129)
20	HGSV	ss77277153	Dec 06, 2007 (129)
21	ILLUMINA	ss79140604	Dec 14, 2007 (130)
22	HGSV	ss82413252	Dec 14, 2007 (130)
23	HGSV	ss82603814	Dec 14, 2007 (130)
24	KRIBB_YJKIM	ss84061691	Dec 14, 2007 (130)
25	CANCER-GENOME	ss86348056	Mar 23, 2008 (129)
26	BCMHGSC_JDW	ss90138619	Mar 24, 2008 (129)
27	HUMANGENOME_JCVI	ss96807243	Feb 04, 2009 (130)
28	1000GENOMES	ss108772864	Jan 23, 2009 (130)
29	1000GENOMES	ss114093892	Jan 25, 2009 (130)
30	ILLUMINA-UK	ss118205718	Feb 14, 2009 (130)
31	ILLUMINA	ss122067886	Dec 01, 2009 (131)
32	ENSEMBL	ss134261539	Dec 01, 2009 (131)
33	ENSEMBL	ss143134232	Dec 01, 2009 (131)
34	ILLUMINA	ss153922248	Dec 01, 2009 (131)
35	ILLUMINA	ss159399672	Dec 01, 2009 (131)
36	SEATTLESEQ	ss159730556	Dec 01, 2009 (131)
37	ILLUMINA	ss160562616	Dec 01, 2009 (131)
38	COMPLETE_GENOMICS	ss167911384	Jul 04, 2010 (132)
39	COMPLETE_GENOMICS	ss169283067	Jul 04, 2010 (132)
40	ILLUMINA	ss171316317	Jul 04, 2010 (132)
41	ILLUMINA	ss173404068	Jul 04, 2010 (132)
42	AFFY	ss173512360	Jul 04, 2010 (132)
43	BUSHMAN	ss200774806	Jul 04, 2010 (132)
44	1000GENOMES	ss236758733	Jul 15, 2010 (132)
45	1000GENOMES	ss243148727	Jul 15, 2010 (132)
46	GMI	ss282232437	May 04, 2012 (137)
47	PJP	ss291827365	May 09, 2011 (134)
48	NHLBI-ESP	ss342401912	May 09, 2011 (134)
49	ILLUMINA	ss410924458	Sep 17, 2011 (135)
50	ILLUMINA	ss480614573	May 04, 2012 (137)
51	ILLUMINA	ss480629047	May 04, 2012 (137)
52	ILLUMINA	ss481464741	Sep 08, 2015 (146)
53	ILLUMINA	ss485102343	May 04, 2012 (137)
54	1000GENOMES	ss491081740	May 04, 2012 (137)
55	EXOME_CHIP	ss491493630	May 04, 2012 (137)
56	CLINSEQ_SNP	ss491699589	May 04, 2012 (137)
57	ILLUMINA	ss537107928	Sep 08, 2015 (146)
58	TISHKOFF	ss564446657	Apr 25, 2013 (138)
59	SSMP	ss660164880	Apr 25, 2013 (138)
60	ILLUMINA	ss778873834	Sep 08, 2015 (146)
61	ILLUMINA	ss780707993	Sep 08, 2015 (146)
62	ILLUMINA	ss782997468	Sep 08, 2015 (146)
63	ILLUMINA	ss783382678	Sep 08, 2015 (146)
64	ILLUMINA	ss783958051	Sep 08, 2015 (146)
65	ILLUMINA	ss825471122	Jul 19, 2016 (147)
66	ILLUMINA	ss832254464	Sep 08, 2015 (146)
67	ILLUMINA	ss832911391	Jul 13, 2019 (153)
68	ILLUMINA	ss834334774	Sep 08, 2015 (146)
69	JMKIDD_LAB	ss974491061	Aug 21, 2014 (142)
70	EVA-GONL	ss991728134	Aug 21, 2014 (142)
71	JMKIDD_LAB	ss1067551882	Aug 21, 2014 (142)
72	JMKIDD_LAB	ss1080080612	Aug 21, 2014 (142)
73	1000GENOMES	ss1353232383	Aug 21, 2014 (142)
74	HAMMER_LAB	ss1397695633	Sep 08, 2015 (146)
75	DDI	ss1427608521	Apr 01, 2015 (144)
76	EVA_GENOME_DK	ss1577582807	Apr 01, 2015 (144)
77	EVA_FINRISK	ss1584093667	Apr 01, 2015 (144)
78	EVA_UK10K_ALSPAC	ss1632876290	Apr 01, 2015 (144)
79	EVA_UK10K_TWINSUK	ss1675870323	Apr 01, 2015 (144)
80	EVA_EXAC	ss1691797250	Apr 01, 2015 (144)
81	EVA_DECODE	ss1695743256	Apr 01, 2015 (144)
82	EVA_MGP	ss1711395622	Apr 01, 2015 (144)
83	EVA_SVP	ss1713485588	Apr 01, 2015 (144)
84	ILLUMINA	ss1752160386	Sep 08, 2015 (146)
85	ILLUMINA	ss1752160387	Sep 08, 2015 (146)
86	HAMMER_LAB	ss1808178237	Sep 08, 2015 (146)
87	ILLUMINA	ss1917895704	Feb 12, 2016 (147)
88	WEILL_CORNELL_DGM	ss1935132610	Feb 12, 2016 (147)
89	ILLUMINA	ss1946392089	Feb 12, 2016 (147)
90	ILLUMINA	ss1959608129	Feb 12, 2016 (147)
91	JJLAB	ss2028346095	Sep 14, 2016 (149)
92	USC_VALOUEV	ss2156745175	Dec 20, 2016 (150)
93	HUMAN_LONGEVITY	ss2206314383	Dec 20, 2016 (150)
94	SYSTEMSBIOZJU	ss2628667111	Nov 08, 2017 (151)
95	ILLUMINA	ss2633222185	Nov 08, 2017 (151)
96	ILLUMINA	ss2633222186	Nov 08, 2017 (151)
97	ILLUMINA	ss2635057548	Nov 08, 2017 (151)
98	GRF	ss2701211771	Nov 08, 2017 (151)
99	GNOMAD	ss2741196098	Nov 08, 2017 (151)
100	GNOMAD	ss2749290612	Nov 08, 2017 (151)
101	GNOMAD	ss2934225660	Nov 08, 2017 (151)
102	AFFY	ss2985039865	Nov 08, 2017 (151)
103	SWEGEN	ss3013188304	Nov 08, 2017 (151)
104	ILLUMINA	ss3021627760	Nov 08, 2017 (151)
105	EVA_SAMSUNG_MC	ss3023069055	Nov 08, 2017 (151)
106	BIOINF_KMB_FNS_UNIBA	ss3027996799	Nov 08, 2017 (151)
107	CSHL	ss3351090205	Nov 08, 2017 (151)
108	ILLUMINA	ss3627348312	Oct 12, 2018 (152)
109	ILLUMINA	ss3627348313	Oct 12, 2018 (152)
110	ILLUMINA	ss3631215634	Oct 12, 2018 (152)
111	ILLUMINA	ss3633095484	Oct 12, 2018 (152)
112	ILLUMINA	ss3633800033	Oct 12, 2018 (152)
113	ILLUMINA	ss3634603946	Oct 12, 2018 (152)
114	ILLUMINA	ss3634603947	Oct 12, 2018 (152)
115	ILLUMINA	ss3635488991	Oct 12, 2018 (152)
116	ILLUMINA	ss3636293904	Oct 12, 2018 (152)
117	ILLUMINA	ss3637240249	Oct 12, 2018 (152)
118	ILLUMINA	ss3638082262	Oct 12, 2018 (152)
119	ILLUMINA	ss3639054408	Oct 12, 2018 (152)
120	ILLUMINA	ss3639532462	Oct 12, 2018 (152)
121	ILLUMINA	ss3640311270	Oct 12, 2018 (152)
122	ILLUMINA	ss3640311271	Oct 12, 2018 (152)
123	ILLUMINA	ss3643066648	Oct 12, 2018 (152)
124	ILLUMINA	ss3644645196	Oct 12, 2018 (152)
125	OMUKHERJEE_ADBS	ss3646473573	Oct 12, 2018 (152)
126	URBANLAB	ss3650342073	Oct 12, 2018 (152)
127	ILLUMINA	ss3652028004	Oct 12, 2018 (152)
128	ILLUMINA	ss3653811286	Oct 12, 2018 (152)
129	EGCUT_WGS	ss3680333879	Jul 13, 2019 (153)
130	EVA_DECODE	ss3697782119	Jul 13, 2019 (153)
131	ILLUMINA	ss3725494824	Jul 13, 2019 (153)
132	ACPOP	ss3740875197	Jul 13, 2019 (153)
133	ILLUMINA	ss3744419271	Jul 13, 2019 (153)
134	ILLUMINA	ss3744904493	Jul 13, 2019 (153)
135	ILLUMINA	ss3744904494	Jul 13, 2019 (153)
136	EVA	ss3753013818	Jul 13, 2019 (153)
137	PAGE_CC	ss3771826510	Jul 13, 2019 (153)
138	ILLUMINA	ss3772403158	Jul 13, 2019 (153)
139	ILLUMINA	ss3772403159	Jul 13, 2019 (153)
140	PACBIO	ss3787830966	Jul 13, 2019 (153)
141	PACBIO	ss3792845684	Jul 13, 2019 (153)
142	PACBIO	ss3797730165	Jul 13, 2019 (153)
143	KHV_HUMAN_GENOMES	ss3818332471	Jul 13, 2019 (153)
144	EVA	ss3824913228	Apr 27, 2020 (154)
145	EVA	ss3825529871	Apr 27, 2020 (154)
146	EVA	ss3825857960	Apr 27, 2020 (154)
147	EVA	ss3834206746	Apr 27, 2020 (154)
148	EVA	ss3840701917	Apr 27, 2020 (154)
149	EVA	ss3846190598	Apr 27, 2020 (154)
150	HGDP	ss3847521840	Apr 27, 2020 (154)
151	SGDP_PRJ	ss3882796409	Apr 27, 2020 (154)
152	KRGDB	ss3931942550	Apr 27, 2020 (154)
153	FSA-LAB	ss3984071969	Apr 26, 2021 (155)
154	EVA	ss3984700423	Apr 26, 2021 (155)
155	EVA	ss3985713247	Apr 26, 2021 (155)
156	EVA	ss3986067047	Apr 26, 2021 (155)
157	EVA	ss3986645848	Apr 26, 2021 (155)
158	EVA	ss4017698832	Apr 26, 2021 (155)
159	TOPMED	ss4989299407	Apr 26, 2021 (155)
160	TOMMO_GENOMICS	ss5215918833	Apr 26, 2021 (155)
161	EVA	ss5236923301	Apr 26, 2021 (155)
162	EVA	ss5237229776	Apr 26, 2021 (155)
163	EVA	ss5237549887	Apr 26, 2021 (155)
164	EVA	ss5237663970	Oct 16, 2022 (156)
165	1000G_HIGH_COVERAGE	ss5298239161	Oct 16, 2022 (156)
166	TRAN_CS_UWATERLOO	ss5314440936	Oct 16, 2022 (156)
167	EVA	ss5315779993	Oct 16, 2022 (156)
168	EVA	ss5418865339	Oct 16, 2022 (156)
169	HUGCELL_USP	ss5491991374	Oct 16, 2022 (156)
170	EVA	ss5511411736	Oct 16, 2022 (156)
171	1000G_HIGH_COVERAGE	ss5599537670	Oct 16, 2022 (156)
172	EVA	ss5623964178	Oct 16, 2022 (156)
173	EVA	ss5624052482	Oct 16, 2022 (156)
174	SANFORD_IMAGENETICS	ss5624359050	Oct 16, 2022 (156)
175	SANFORD_IMAGENETICS	ss5657395272	Oct 16, 2022 (156)
176	TOMMO_GENOMICS	ss5769643555	Oct 16, 2022 (156)
177	EVA	ss5799453691	Oct 16, 2022 (156)
178	EVA	ss5799936296	Oct 16, 2022 (156)
179	EVA	ss5800067942	Oct 16, 2022 (156)
180	EVA	ss5800192959	Oct 16, 2022 (156)
181	YY_MCH	ss5815282258	Oct 16, 2022 (156)
182	EVA	ss5828125845	Oct 16, 2022 (156)
183	EVA	ss5847447781	Oct 16, 2022 (156)
184	EVA	ss5847740793	Oct 16, 2022 (156)
185	EVA	ss5848400659	Oct 16, 2022 (156)
186	EVA	ss5851268952	Oct 16, 2022 (156)
187	EVA	ss5875646533	Oct 16, 2022 (156)
188	EVA	ss5936560156	Oct 16, 2022 (156)
189	EVA	ss5948793049	Oct 16, 2022 (156)
190	EVA	ss5979459166	Oct 16, 2022 (156)
191	EVA	ss5980866130	Oct 16, 2022 (156)
192	EVA	ss5981289045	Oct 16, 2022 (156)
193	1000Genomes	NC_000015.9 - 43724646	Oct 12, 2018 (152)
194	1000Genomes_30x	NC_000015.10 - 43432448	Oct 16, 2022 (156)
195	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 43724646	Oct 12, 2018 (152)
196	Chileans	NC_000015.9 - 43724646	Apr 27, 2020 (154)
197	Genome-wide autozygosity in Daghestan	NC_000015.8 - 41511938	Apr 27, 2020 (154)
198	Genetic variation in the Estonian population	NC_000015.9 - 43724646	Oct 12, 2018 (152)
199	ExAC	NC_000015.9 - 43724646	Oct 12, 2018 (152)
200	FINRISK	NC_000015.9 - 43724646	Apr 27, 2020 (154)
201	The Danish reference pan genome	NC_000015.9 - 43724646	Apr 27, 2020 (154)
202	gnomAD - Genomes	NC_000015.10 - 43432448	Apr 26, 2021 (155)
203	gnomAD - Exomes	NC_000015.9 - 43724646	Jul 13, 2019 (153)
204	GO Exome Sequencing Project	NC_000015.9 - 43724646	Oct 12, 2018 (152)
205	Genome of the Netherlands Release 5	NC_000015.9 - 43724646	Apr 27, 2020 (154)
206	HGDP-CEPH-db Supplement 1	NC_000015.8 - 41511938	Apr 27, 2020 (154)
207	HapMap	NC_000015.10 - 43432448	Apr 27, 2020 (154)
208	KOREAN population from KRGDB	NC_000015.9 - 43724646	Apr 27, 2020 (154)
209	Medical Genome Project healthy controls from Spanish population	NC_000015.9 - 43724646	Apr 27, 2020 (154)
210	Northern Sweden	NC_000015.9 - 43724646	Jul 13, 2019 (153)
211	The PAGE Study	NC_000015.10 - 43432448	Jul 13, 2019 (153)
212	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 43724646	Apr 26, 2021 (155)
213	CNV burdens in cranial meningiomas	NC_000015.9 - 43724646	Apr 26, 2021 (155)
214	Qatari	NC_000015.9 - 43724646	Apr 27, 2020 (154)
215	SGDP_PRJ	NC_000015.9 - 43724646	Apr 27, 2020 (154)
216	Siberian	NC_000015.9 - 43724646	Apr 27, 2020 (154)
217	8.3KJPN	NC_000015.9 - 43724646	Apr 26, 2021 (155)
218	14KJPN	NC_000015.10 - 43432448	Oct 16, 2022 (156)
219	TopMed	NC_000015.10 - 43432448	Apr 26, 2021 (155)
220	UK 10K study - Twins	NC_000015.9 - 43724646	Oct 12, 2018 (152)
221	A Vietnamese Genetic Variation Database	NC_000015.9 - 43724646	Jul 13, 2019 (153)
222	ALFA	NC_000015.10 - 43432448	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)
rs3803338	Oct 09, 2002 (108)
rs58179572	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
39119944, ss3931942550	NC_000015.9:43724645:T:A	NC_000015.10:43432447:T:A	(self)
165815, 199732, ss77277153, ss82413252, ss82603814, ss90138619, ss108772864, ss114093892, ss118205718, ss167911384, ss169283067, ss200774806, ss282232437, ss291827365, ss480614573, ss491699589, ss825471122, ss1397695633, ss1695743256, ss1713485588, ss2635057548, ss3639054408, ss3639532462, ss3643066648, ss3847521840	NC_000015.8:41511937:T:G	NC_000015.10:43432447:T:G	(self)
66295842, 36802832, 151380, 26072127, 2168413, 90128, 3834084, 10460333, 1370500, 16438131, 39119944, 511382, 14160062, 939174, 249945, 17174540, 34813389, 9261529, 73888140, 36802832, 8187886, ss236758733, ss243148727, ss342401912, ss480629047, ss481464741, ss485102343, ss491081740, ss491493630, ss537107928, ss564446657, ss660164880, ss778873834, ss780707993, ss782997468, ss783382678, ss783958051, ss832254464, ss832911391, ss834334774, ss974491061, ss991728134, ss1067551882, ss1080080612, ss1353232383, ss1427608521, ss1577582807, ss1584093667, ss1632876290, ss1675870323, ss1691797250, ss1711395622, ss1752160386, ss1752160387, ss1808178237, ss1917895704, ss1935132610, ss1946392089, ss1959608129, ss2028346095, ss2156745175, ss2628667111, ss2633222185, ss2633222186, ss2701211771, ss2741196098, ss2749290612, ss2934225660, ss2985039865, ss3013188304, ss3021627760, ss3023069055, ss3351090205, ss3627348312, ss3627348313, ss3631215634, ss3633095484, ss3633800033, ss3634603946, ss3634603947, ss3635488991, ss3636293904, ss3637240249, ss3638082262, ss3640311270, ss3640311271, ss3644645196, ss3646473573, ss3652028004, ss3653811286, ss3680333879, ss3740875197, ss3744419271, ss3744904493, ss3744904494, ss3753013818, ss3772403158, ss3772403159, ss3787830966, ss3792845684, ss3797730165, ss3824913228, ss3825529871, ss3825857960, ss3834206746, ss3840701917, ss3882796409, ss3931942550, ss3984071969, ss3984700423, ss3985713247, ss3986067047, ss3986645848, ss4017698832, ss5215918833, ss5237549887, ss5315779993, ss5418865339, ss5511411736, ss5623964178, ss5624052482, ss5624359050, ss5657395272, ss5799453691, ss5799936296, ss5800067942, ss5800192959, ss5828125845, ss5847447781, ss5847740793, ss5848400659, ss5936560156, ss5948793049, ss5979459166, ss5980866130, ss5981289045	NC_000015.9:43724645:T:G	NC_000015.10:43432447:T:G	(self)
87063605, 467340035, 1252084, 1047979, 103480659, 204845067, 12730759239, ss2206314383, ss3027996799, ss3650342073, ss3697782119, ss3725494824, ss3771826510, ss3818332471, ss3846190598, ss4989299407, ss5236923301, ss5237229776, ss5237663970, ss5298239161, ss5314440936, ss5491991374, ss5599537670, ss5769643555, ss5815282258, ss5851268952, ss5875646533	NC_000015.10:43432447:T:G	NC_000015.10:43432447:T:G	(self)
ss12325571	NT_010194.15:14514256:T:G	NC_000015.10:43432447:T:G	(self)
ss3660288, ss4989725, ss23963734, ss37042818, ss43696418, ss48297357, ss48404592, ss65727060, ss66270005, ss66582644, ss67263058, ss67662499, ss69174894, ss70454026, ss70741446, ss71312452, ss74949883, ss76414825, ss79140604, ss84061691, ss86348056, ss96807243, ss122067886, ss134261539, ss143134232, ss153922248, ss159399672, ss159730556, ss160562616, ss171316317, ss173404068, ss173512360, ss410924458	NT_010194.17:14515202:T:G	NC_000015.10:43432447:T:G	(self)

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

9 citations for rs2602141

PMID	Title	Author	Year	Journal
15987456	TP53-binding protein variants and breast cancer risk: a case-control study.	Frank B et al.	2005	Breast cancer research
16741161	Variants in the GH-IGF axis confer susceptibility to lung cancer.	Rudd MF et al.	2006	Genome research
20106900	International Lung Cancer Consortium: coordinated association study of 10 potential lung cancer susceptibility variants.	Truong T et al.	2010	Carcinogenesis
20686496	Genetic variants in the 53BP1 gene and skin cancer risk.	He C et al.	2010	The Journal of investigative dermatology
21212151	Interactions between genetic polymorphisms in the apoptotic pathway and environmental factors on esophageal adenocarcinoma risk.	Wu IC et al.	2011	Carcinogenesis
21303977	Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk.	Rafnar T et al.	2011	Cancer research
21807602	Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.	Zhang G et al.	2011	Human genomics
23349013	Genetic susceptibility to lung cancer--light at the end of the tunnel?	Marshall AL et al.	2013	Carcinogenesis
26130668	Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer.	Joo J et al.	2016	Cancer research and treatment

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2602141