Name: rs143084012
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.

rs143084012

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:8856541-8856553 (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: delTA / dupTA / dupTATA
Variation Type: Indel Insertion and Deletion
Frequency: dupTA=0.08447 (2387/28258, 14KJPN)
dupTA=0.03003 (513/17082, ALFA)
dupTA=0.08413 (1410/16760, 8.3KJPN) (+ 7 more)
dupTA=0.0598 (383/6404, 1000G_30x)
dupTA=0.0591 (296/5008, 1000G)
dupTA=0.0792 (355/4480, Estonian)
dupTA=0.090 (90/998, GoNL)
dupTA=0.102 (61/600, NorthernSweden)
dupTA=0.042 (9/214, Vietnamese)
dupTA=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PTPRD : Intron Variant
PTPRD-AS1 : 2KB Upstream Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	17082	ATATATATATATA=0.96997	ATATATATATATATA=0.03003, ATATATATATATATATA=0.00000	0.941693	0.001756	0.056551	5
European	Sub	13138	ATATATATATATA=0.96133	ATATATATATATATA=0.03867, ATATATATATATATATA=0.00000	0.924951	0.002283	0.072766	2
African	Sub	2592	ATATATATATATA=0.9992	ATATATATATATATA=0.0008, ATATATATATATATATA=0.0000	0.998457	0.0	0.001543	0
African Others	Sub	98	ATATATATATATA=1.00	ATATATATATATATA=0.00, ATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
African American	Sub	2494	ATATATATATATA=0.9992	ATATATATATATATA=0.0008, ATATATATATATATATA=0.0000	0.998396	0.0	0.001604	0
Asian	Sub	104	ATATATATATATA=1.000	ATATATATATATATA=0.000, ATATATATATATATATA=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	80	ATATATATATATA=1.00	ATATATATATATATA=0.00, ATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	ATATATATATATA=1.00	ATATATATATATATA=0.00, ATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	134	ATATATATATATA=1.000	ATATATATATATATA=0.000, ATATATATATATATATA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	574	ATATATATATATA=1.000	ATATATATATATATA=0.000, ATATATATATATATATA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	98	ATATATATATATA=0.99	ATATATATATATATA=0.01, ATATATATATATATATA=0.00	0.979592	0.0	0.020408	0
Other	Sub	442	ATATATATATATA=0.995	ATATATATATATATA=0.005, ATATATATATATATATA=0.000	0.99095	0.0	0.00905	0

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
14KJPN	JAPANESE	Study-wide	28258	- No frequency provided	dupTA=0.08447
Allele Frequency Aggregator	Total	Global	17082	(AT)₆A=0.96997	dupTA=0.03003, dupTATA=0.00000
Allele Frequency Aggregator	European	Sub	13138	(AT)₆A=0.96133	dupTA=0.03867, dupTATA=0.00000
Allele Frequency Aggregator	African	Sub	2592	(AT)₆A=0.9992	dupTA=0.0008, dupTATA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	574	(AT)₆A=1.000	dupTA=0.000, dupTATA=0.000
Allele Frequency Aggregator	Other	Sub	442	(AT)₆A=0.995	dupTA=0.005, dupTATA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	134	(AT)₆A=1.000	dupTA=0.000, dupTATA=0.000
Allele Frequency Aggregator	Asian	Sub	104	(AT)₆A=1.000	dupTA=0.000, dupTATA=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(AT)₆A=0.99	dupTA=0.01, dupTATA=0.00
8.3KJPN	JAPANESE	Study-wide	16760	- No frequency provided	dupTA=0.08413
1000Genomes_30x	Global	Study-wide	6404	- No frequency provided	dupTA=0.0598
1000Genomes_30x	African	Sub	1786	- No frequency provided	dupTA=0.0538
1000Genomes_30x	Europe	Sub	1266	- No frequency provided	dupTA=0.0687
1000Genomes_30x	South Asian	Sub	1202	- No frequency provided	dupTA=0.0740
1000Genomes_30x	East Asian	Sub	1170	- No frequency provided	dupTA=0.0590
1000Genomes_30x	American	Sub	980	- No frequency provided	dupTA=0.043
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupTA=0.0591
1000Genomes	African	Sub	1322	- No frequency provided	dupTA=0.0545
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupTA=0.0575
1000Genomes	Europe	Sub	1006	- No frequency provided	dupTA=0.0666
1000Genomes	South Asian	Sub	978	- No frequency provided	dupTA=0.075
1000Genomes	American	Sub	694	- No frequency provided	dupTA=0.037
Genetic variation in the Estonian population	Estonian	Study-wide	4480	- No frequency provided	dupTA=0.0792
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	- No frequency provided	dupTA=0.090
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupTA=0.102
A Vietnamese Genetic Variation Database	Global	Study-wide	214	- No frequency provided	dupTA=0.042
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupTA=0.03

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 9	NC_000009.12:g.8856542TA[5]
GRCh38.p14 chr 9	NC_000009.12:g.8856542TA[7]
GRCh38.p14 chr 9	NC_000009.12:g.8856542TA[8]
GRCh37.p13 chr 9	NC_000009.11:g.8856542TA[5]
GRCh37.p13 chr 9	NC_000009.11:g.8856542TA[7]
GRCh37.p13 chr 9	NC_000009.11:g.8856542TA[8]
PTPRD RefSeqGene	NG_033963.1:g.1761172AT[5]
PTPRD RefSeqGene	NG_033963.1:g.1761172AT[7]
PTPRD RefSeqGene	NG_033963.1:g.1761172AT[8]

Gene: PTPRD, protein tyrosine phosphatase receptor type D (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTPRD transcript variant 6	NM_001171025.2:c.-104+108… NM_001171025.2:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant 7	NM_001377946.1:c.-104+108… NM_001377946.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant 8	NM_001377947.1:c.-104+820… NM_001377947.1:c.-104+820AT[5]	N/A	Intron Variant
PTPRD transcript variant 9	NM_001377958.1:c.-104+108… NM_001377958.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant 10	NM_001378058.1:c.-104+108… NM_001378058.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant 1	NM_002839.4:c.-103-122606… NM_002839.4:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant 5	NM_001040712.2:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 2	NM_130391.4:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 3	NM_130392.3:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 4	NM_130393.3:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X7	XM_006716817.5:c.-103-122… XM_006716817.5:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X24	XM_006716823.4:c.-103-122… XM_006716823.4:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X27	XM_006716825.5:c.-103-122… XM_006716825.5:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X40	XM_006716827.5:c.-103-122… XM_006716827.5:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X1	XM_017014958.3:c.-103-122… XM_017014958.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X2	XM_017014961.3:c.-103-122… XM_017014961.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X5	XM_017014963.3:c.-103-122… XM_017014963.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X4	XM_017014964.3:c.-103-122… XM_017014964.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X6	XM_017014965.3:c.-103-122… XM_017014965.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X8	XM_017014966.3:c.-103-122… XM_017014966.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X9	XM_017014967.3:c.-103-122… XM_017014967.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X10	XM_017014968.3:c.-103-122… XM_017014968.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X13	XM_017014969.3:c.-103-122… XM_017014969.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X12	XM_017014970.3:c.-103-122… XM_017014970.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X15	XM_017014971.3:c.-103-122… XM_017014971.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X16	XM_017014972.3:c.-103-122… XM_017014972.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X17	XM_017014974.3:c.-103-122… XM_017014974.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X20	XM_017014976.3:c.-103-122… XM_017014976.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X19	XM_017014977.3:c.-103-122… XM_017014977.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X22	XM_017014978.3:c.-103-122… XM_017014978.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X23	XM_017014979.3:c.-103-122… XM_017014979.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X33	XM_017014980.3:c.-103-122… XM_017014980.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X44	XM_017014982.3:c.-103-122… XM_017014982.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X45	XM_017014983.3:c.-103-122… XM_017014983.3:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X14	XM_024447625.2:c.-103-122… XM_024447625.2:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X3	XM_047423641.1:c.-103-122… XM_047423641.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X11	XM_047423642.1:c.-103-122… XM_047423642.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X18	XM_047423643.1:c.-104+108… XM_047423643.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant X21	XM_047423644.1:c.-103-122… XM_047423644.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X25	XM_047423645.1:c.-103-122… XM_047423645.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X26	XM_047423646.1:c.-104+108… XM_047423646.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant X28	XM_047423647.1:c.-103-122… XM_047423647.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X29	XM_047423648.1:c.-104+108… XM_047423648.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant X30	XM_047423649.1:c.-103-122… XM_047423649.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X31	XM_047423650.1:c.-103-122… XM_047423650.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X32	XM_047423651.1:c.-103-122… XM_047423651.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X34	XM_047423652.1:c.-103-122… XM_047423652.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X35	XM_047423653.1:c.-103-122… XM_047423653.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X36	XM_047423654.1:c.-103-122… XM_047423654.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X37	XM_047423655.1:c.-104+108… XM_047423655.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant X38	XM_047423656.1:c.-104+108… XM_047423656.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant X39	XM_047423657.1:c.-103-122… XM_047423657.1:c.-103-122606AT[5]	N/A	Intron Variant
PTPRD transcript variant X41	XM_047423658.1:c.-104+108… XM_047423658.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant X42	XM_047423659.1:c.-104+108… XM_047423659.1:c.-104+1086AT[5]	N/A	Intron Variant
PTPRD transcript variant X43	XM_047423660.1:c.-104+108… XM_047423660.1:c.-104+1086AT[5]	N/A	Intron Variant

Gene: PTPRD-AS1, PTPRD antisense RNA 1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
PTPRD-AS1 transcript variant 1	NR_121599.1:n.	N/A	Upstream Transcript Variant
PTPRD-AS1 transcript variant 2	NR_121600.1:n.	N/A	Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(AT)₆A=	delTA	dupTA	dupTATA
GRCh38.p14 chr 9	NC_000009.12:g.8856541_8856553=	NC_000009.12:g.8856542TA[5]	NC_000009.12:g.8856542TA[7]	NC_000009.12:g.8856542TA[8]
GRCh37.p13 chr 9	NC_000009.11:g.8856541_8856553=	NC_000009.11:g.8856542TA[5]	NC_000009.11:g.8856542TA[7]	NC_000009.11:g.8856542TA[8]
PTPRD RefSeqGene	NG_033963.1:g.1761171_1761183=	NG_033963.1:g.1761172AT[5]	NG_033963.1:g.1761172AT[7]	NG_033963.1:g.1761172AT[8]
PTPRD transcript variant 6	NM_001171025.2:c.-104+1097=	NM_001171025.2:c.-104+1086AT[5]	NM_001171025.2:c.-104+1086AT[7]	NM_001171025.2:c.-104+1086AT[8]
PTPRD transcript variant 7	NM_001377946.1:c.-104+1097=	NM_001377946.1:c.-104+1086AT[5]	NM_001377946.1:c.-104+1086AT[7]	NM_001377946.1:c.-104+1086AT[8]
PTPRD transcript variant 8	NM_001377947.1:c.-104+831=	NM_001377947.1:c.-104+820AT[5]	NM_001377947.1:c.-104+820AT[7]	NM_001377947.1:c.-104+820AT[8]
PTPRD transcript variant 9	NM_001377958.1:c.-104+1097=	NM_001377958.1:c.-104+1086AT[5]	NM_001377958.1:c.-104+1086AT[7]	NM_001377958.1:c.-104+1086AT[8]
PTPRD transcript variant 10	NM_001378058.1:c.-104+1097=	NM_001378058.1:c.-104+1086AT[5]	NM_001378058.1:c.-104+1086AT[7]	NM_001378058.1:c.-104+1086AT[8]
PTPRD transcript variant 1	NM_002839.3:c.-103-122595=	NM_002839.3:c.-103-122606AT[5]	NM_002839.3:c.-103-122606AT[7]	NM_002839.3:c.-103-122606AT[8]
PTPRD transcript variant 1	NM_002839.4:c.-103-122595=	NM_002839.4:c.-103-122606AT[5]	NM_002839.4:c.-103-122606AT[7]	NM_002839.4:c.-103-122606AT[8]
PTPRD transcript variant X1	XM_005251529.1:c.-103-122595=	XM_005251529.1:c.-103-122606AT[5]	XM_005251529.1:c.-103-122606AT[7]	XM_005251529.1:c.-103-122606AT[8]
PTPRD transcript variant X2	XM_005251530.1:c.-104+1097=	XM_005251530.1:c.-104+1086AT[5]	XM_005251530.1:c.-104+1086AT[7]	XM_005251530.1:c.-104+1086AT[8]
PTPRD transcript variant X5	XM_005251533.1:c.-103-122595=	XM_005251533.1:c.-103-122606AT[5]	XM_005251533.1:c.-103-122606AT[7]	XM_005251533.1:c.-103-122606AT[8]
PTPRD transcript variant X7	XM_006716817.5:c.-103-122595=	XM_006716817.5:c.-103-122606AT[5]	XM_006716817.5:c.-103-122606AT[7]	XM_006716817.5:c.-103-122606AT[8]
PTPRD transcript variant X24	XM_006716823.4:c.-103-122595=	XM_006716823.4:c.-103-122606AT[5]	XM_006716823.4:c.-103-122606AT[7]	XM_006716823.4:c.-103-122606AT[8]
PTPRD transcript variant X27	XM_006716825.5:c.-103-122595=	XM_006716825.5:c.-103-122606AT[5]	XM_006716825.5:c.-103-122606AT[7]	XM_006716825.5:c.-103-122606AT[8]
PTPRD transcript variant X40	XM_006716827.5:c.-103-122595=	XM_006716827.5:c.-103-122606AT[5]	XM_006716827.5:c.-103-122606AT[7]	XM_006716827.5:c.-103-122606AT[8]
PTPRD transcript variant X1	XM_017014958.3:c.-103-122595=	XM_017014958.3:c.-103-122606AT[5]	XM_017014958.3:c.-103-122606AT[7]	XM_017014958.3:c.-103-122606AT[8]
PTPRD transcript variant X2	XM_017014961.3:c.-103-122595=	XM_017014961.3:c.-103-122606AT[5]	XM_017014961.3:c.-103-122606AT[7]	XM_017014961.3:c.-103-122606AT[8]
PTPRD transcript variant X5	XM_017014963.3:c.-103-122595=	XM_017014963.3:c.-103-122606AT[5]	XM_017014963.3:c.-103-122606AT[7]	XM_017014963.3:c.-103-122606AT[8]
PTPRD transcript variant X4	XM_017014964.3:c.-103-122595=	XM_017014964.3:c.-103-122606AT[5]	XM_017014964.3:c.-103-122606AT[7]	XM_017014964.3:c.-103-122606AT[8]
PTPRD transcript variant X6	XM_017014965.3:c.-103-122595=	XM_017014965.3:c.-103-122606AT[5]	XM_017014965.3:c.-103-122606AT[7]	XM_017014965.3:c.-103-122606AT[8]
PTPRD transcript variant X8	XM_017014966.3:c.-103-122595=	XM_017014966.3:c.-103-122606AT[5]	XM_017014966.3:c.-103-122606AT[7]	XM_017014966.3:c.-103-122606AT[8]
PTPRD transcript variant X9	XM_017014967.3:c.-103-122595=	XM_017014967.3:c.-103-122606AT[5]	XM_017014967.3:c.-103-122606AT[7]	XM_017014967.3:c.-103-122606AT[8]
PTPRD transcript variant X10	XM_017014968.3:c.-103-122595=	XM_017014968.3:c.-103-122606AT[5]	XM_017014968.3:c.-103-122606AT[7]	XM_017014968.3:c.-103-122606AT[8]
PTPRD transcript variant X13	XM_017014969.3:c.-103-122595=	XM_017014969.3:c.-103-122606AT[5]	XM_017014969.3:c.-103-122606AT[7]	XM_017014969.3:c.-103-122606AT[8]
PTPRD transcript variant X12	XM_017014970.3:c.-103-122595=	XM_017014970.3:c.-103-122606AT[5]	XM_017014970.3:c.-103-122606AT[7]	XM_017014970.3:c.-103-122606AT[8]
PTPRD transcript variant X15	XM_017014971.3:c.-103-122595=	XM_017014971.3:c.-103-122606AT[5]	XM_017014971.3:c.-103-122606AT[7]	XM_017014971.3:c.-103-122606AT[8]
PTPRD transcript variant X16	XM_017014972.3:c.-103-122595=	XM_017014972.3:c.-103-122606AT[5]	XM_017014972.3:c.-103-122606AT[7]	XM_017014972.3:c.-103-122606AT[8]
PTPRD transcript variant X17	XM_017014974.3:c.-103-122595=	XM_017014974.3:c.-103-122606AT[5]	XM_017014974.3:c.-103-122606AT[7]	XM_017014974.3:c.-103-122606AT[8]
PTPRD transcript variant X20	XM_017014976.3:c.-103-122595=	XM_017014976.3:c.-103-122606AT[5]	XM_017014976.3:c.-103-122606AT[7]	XM_017014976.3:c.-103-122606AT[8]
PTPRD transcript variant X19	XM_017014977.3:c.-103-122595=	XM_017014977.3:c.-103-122606AT[5]	XM_017014977.3:c.-103-122606AT[7]	XM_017014977.3:c.-103-122606AT[8]
PTPRD transcript variant X22	XM_017014978.3:c.-103-122595=	XM_017014978.3:c.-103-122606AT[5]	XM_017014978.3:c.-103-122606AT[7]	XM_017014978.3:c.-103-122606AT[8]
PTPRD transcript variant X23	XM_017014979.3:c.-103-122595=	XM_017014979.3:c.-103-122606AT[5]	XM_017014979.3:c.-103-122606AT[7]	XM_017014979.3:c.-103-122606AT[8]
PTPRD transcript variant X33	XM_017014980.3:c.-103-122595=	XM_017014980.3:c.-103-122606AT[5]	XM_017014980.3:c.-103-122606AT[7]	XM_017014980.3:c.-103-122606AT[8]
PTPRD transcript variant X44	XM_017014982.3:c.-103-122595=	XM_017014982.3:c.-103-122606AT[5]	XM_017014982.3:c.-103-122606AT[7]	XM_017014982.3:c.-103-122606AT[8]
PTPRD transcript variant X45	XM_017014983.3:c.-103-122595=	XM_017014983.3:c.-103-122606AT[5]	XM_017014983.3:c.-103-122606AT[7]	XM_017014983.3:c.-103-122606AT[8]
PTPRD transcript variant X14	XM_024447625.2:c.-103-122595=	XM_024447625.2:c.-103-122606AT[5]	XM_024447625.2:c.-103-122606AT[7]	XM_024447625.2:c.-103-122606AT[8]
PTPRD transcript variant X3	XM_047423641.1:c.-103-122595=	XM_047423641.1:c.-103-122606AT[5]	XM_047423641.1:c.-103-122606AT[7]	XM_047423641.1:c.-103-122606AT[8]
PTPRD transcript variant X11	XM_047423642.1:c.-103-122595=	XM_047423642.1:c.-103-122606AT[5]	XM_047423642.1:c.-103-122606AT[7]	XM_047423642.1:c.-103-122606AT[8]
PTPRD transcript variant X18	XM_047423643.1:c.-104+1097=	XM_047423643.1:c.-104+1086AT[5]	XM_047423643.1:c.-104+1086AT[7]	XM_047423643.1:c.-104+1086AT[8]
PTPRD transcript variant X21	XM_047423644.1:c.-103-122595=	XM_047423644.1:c.-103-122606AT[5]	XM_047423644.1:c.-103-122606AT[7]	XM_047423644.1:c.-103-122606AT[8]
PTPRD transcript variant X25	XM_047423645.1:c.-103-122595=	XM_047423645.1:c.-103-122606AT[5]	XM_047423645.1:c.-103-122606AT[7]	XM_047423645.1:c.-103-122606AT[8]
PTPRD transcript variant X26	XM_047423646.1:c.-104+1097=	XM_047423646.1:c.-104+1086AT[5]	XM_047423646.1:c.-104+1086AT[7]	XM_047423646.1:c.-104+1086AT[8]
PTPRD transcript variant X28	XM_047423647.1:c.-103-122595=	XM_047423647.1:c.-103-122606AT[5]	XM_047423647.1:c.-103-122606AT[7]	XM_047423647.1:c.-103-122606AT[8]
PTPRD transcript variant X29	XM_047423648.1:c.-104+1097=	XM_047423648.1:c.-104+1086AT[5]	XM_047423648.1:c.-104+1086AT[7]	XM_047423648.1:c.-104+1086AT[8]
PTPRD transcript variant X30	XM_047423649.1:c.-103-122595=	XM_047423649.1:c.-103-122606AT[5]	XM_047423649.1:c.-103-122606AT[7]	XM_047423649.1:c.-103-122606AT[8]
PTPRD transcript variant X31	XM_047423650.1:c.-103-122595=	XM_047423650.1:c.-103-122606AT[5]	XM_047423650.1:c.-103-122606AT[7]	XM_047423650.1:c.-103-122606AT[8]
PTPRD transcript variant X32	XM_047423651.1:c.-103-122595=	XM_047423651.1:c.-103-122606AT[5]	XM_047423651.1:c.-103-122606AT[7]	XM_047423651.1:c.-103-122606AT[8]
PTPRD transcript variant X34	XM_047423652.1:c.-103-122595=	XM_047423652.1:c.-103-122606AT[5]	XM_047423652.1:c.-103-122606AT[7]	XM_047423652.1:c.-103-122606AT[8]
PTPRD transcript variant X35	XM_047423653.1:c.-103-122595=	XM_047423653.1:c.-103-122606AT[5]	XM_047423653.1:c.-103-122606AT[7]	XM_047423653.1:c.-103-122606AT[8]
PTPRD transcript variant X36	XM_047423654.1:c.-103-122595=	XM_047423654.1:c.-103-122606AT[5]	XM_047423654.1:c.-103-122606AT[7]	XM_047423654.1:c.-103-122606AT[8]
PTPRD transcript variant X37	XM_047423655.1:c.-104+1097=	XM_047423655.1:c.-104+1086AT[5]	XM_047423655.1:c.-104+1086AT[7]	XM_047423655.1:c.-104+1086AT[8]
PTPRD transcript variant X38	XM_047423656.1:c.-104+1097=	XM_047423656.1:c.-104+1086AT[5]	XM_047423656.1:c.-104+1086AT[7]	XM_047423656.1:c.-104+1086AT[8]
PTPRD transcript variant X39	XM_047423657.1:c.-103-122595=	XM_047423657.1:c.-103-122606AT[5]	XM_047423657.1:c.-103-122606AT[7]	XM_047423657.1:c.-103-122606AT[8]
PTPRD transcript variant X41	XM_047423658.1:c.-104+1097=	XM_047423658.1:c.-104+1086AT[5]	XM_047423658.1:c.-104+1086AT[7]	XM_047423658.1:c.-104+1086AT[8]
PTPRD transcript variant X42	XM_047423659.1:c.-104+1097=	XM_047423659.1:c.-104+1086AT[5]	XM_047423659.1:c.-104+1086AT[7]	XM_047423659.1:c.-104+1086AT[8]
PTPRD transcript variant X43	XM_047423660.1:c.-104+1097=	XM_047423660.1:c.-104+1086AT[5]	XM_047423660.1:c.-104+1086AT[7]	XM_047423660.1:c.-104+1086AT[8]

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#.

40 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288946484	May 04, 2012 (137)
2	1000GENOMES	ss327191499	May 09, 2011 (134)
3	1000GENOMES	ss327544368	May 09, 2011 (134)
4	1000GENOMES	ss498904355	May 04, 2012 (137)
5	LUNTER	ss551912990	Apr 25, 2013 (138)
6	SSMP	ss663938674	Apr 01, 2015 (144)
7	EVA-GONL	ss986289405	Aug 21, 2014 (142)
8	1000GENOMES	ss1368160979	Aug 21, 2014 (142)
9	DDI	ss1536610385	Apr 01, 2015 (144)
10	EVA_GENOME_DK	ss1577330084	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1706319759	Jan 10, 2018 (151)
12	EVA_UK10K_TWINSUK	ss1706319863	Jan 10, 2018 (151)
13	EVA_UK10K_TWINSUK	ss1710412634	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710412716	Apr 01, 2015 (144)
15	JJLAB	ss2030950467	Sep 14, 2016 (149)
16	SWEGEN	ss3004352788	Nov 08, 2017 (151)
17	EGCUT_WGS	ss3672087845	Jul 13, 2019 (153)
18	EVA_DECODE	ss3723436719	Jul 13, 2019 (153)
19	EVA_DECODE	ss3723436720	Jul 13, 2019 (153)
20	ACPOP	ss3736291745	Jul 13, 2019 (153)
21	PACBIO	ss3786341790	Jul 13, 2019 (153)
22	PACBIO	ss3791568088	Jul 13, 2019 (153)
23	PACBIO	ss3796449727	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3812048753	Jul 13, 2019 (153)
25	EVA	ss3831526419	Apr 26, 2020 (154)
26	EVA	ss3839277593	Apr 26, 2020 (154)
27	EVA	ss3844739602	Apr 26, 2020 (154)
28	GNOMAD	ss4197214537	Apr 27, 2021 (155)
29	GNOMAD	ss4197214538	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5191993031	Apr 27, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5279723997	Oct 18, 2022 (156)
32	HUGCELL_USP	ss5476014324	Oct 18, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5571445979	Oct 18, 2022 (156)
34	SANFORD_IMAGENETICS	ss5646864370	Oct 18, 2022 (156)
35	TOMMO_GENOMICS	ss5735018263	Oct 18, 2022 (156)
36	YY_MCH	ss5810326468	Oct 18, 2022 (156)
37	EVA	ss5828821950	Oct 18, 2022 (156)
38	EVA	ss5828821951	Oct 18, 2022 (156)
39	EVA	ss5915443122	Oct 18, 2022 (156)
40	EVA	ss5976133888	Oct 18, 2022 (156)
41	1000Genomes	NC_000009.11 - 8856541	Oct 12, 2018 (152)
42	1000Genomes_30x	NC_000009.12 - 8856541	Oct 18, 2022 (156)
43	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 25063871 (NC_000009.11:8856540::AT 286/3854) Row 25063872 (NC_000009.11:8856540:AT: 6/3854)	-	Oct 12, 2018 (152)
44	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 25063871 (NC_000009.11:8856540::AT 286/3854) Row 25063872 (NC_000009.11:8856540:AT: 6/3854)	-	Oct 12, 2018 (152)
45	Genetic variation in the Estonian population	NC_000009.11 - 8856541	Oct 12, 2018 (152)
46	The Danish reference pan genome	NC_000009.11 - 8856541	Apr 26, 2020 (154)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 317499238 (NC_000009.12:8856540::AT 9472/139912) Row 317499239 (NC_000009.12:8856540::ATAT 2/139934)	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 317499238 (NC_000009.12:8856540::AT 9472/139912) Row 317499239 (NC_000009.12:8856540::ATAT 2/139934)	-	Apr 27, 2021 (155)
49	Genome of the Netherlands Release 5	NC_000009.11 - 8856541	Apr 26, 2020 (154)
50	Northern Sweden	NC_000009.11 - 8856541	Jul 13, 2019 (153)
51	8.3KJPN	NC_000009.11 - 8856541	Apr 27, 2021 (155)
52	14KJPN	NC_000009.12 - 8856541	Oct 18, 2022 (156)
53	UK 10K study - Twins Submission ignored due to conflicting rows: Row 25063871 (NC_000009.11:8856540::AT 252/3708) Row 25063872 (NC_000009.11:8856540:AT: 10/3708)	-	Oct 12, 2018 (152)
54	UK 10K study - Twins Submission ignored due to conflicting rows: Row 25063871 (NC_000009.11:8856540::AT 252/3708) Row 25063872 (NC_000009.11:8856540:AT: 10/3708)	-	Oct 12, 2018 (152)
55	A Vietnamese Genetic Variation Database	NC_000009.11 - 8856541	Jul 13, 2019 (153)
56	ALFA	NC_000009.12 - 8856541	Apr 27, 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)
rs372227494	May 15, 2013 (138)
rs796807908	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1706319759, ss1706319863, ss5828821951	NC_000009.11:8856540:AT:	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATA	(self)
ss3723436720	NC_000009.12:8856540:AT:	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATA	(self)
ss327191499, ss327544368, ss551912990	NC_000009.10:8846540::AT	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	(self)
ss288946484	NC_000009.10:8846553::TA	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	(self)
45042436, 17826093, 1261670, 11177620, 9576610, 49962338, 5565001, ss498904355, ss663938674, ss986289405, ss1368160979, ss1536610385, ss1577330084, ss2030950467, ss3004352788, ss3672087845, ss3736291745, ss3786341790, ss3791568088, ss3796449727, ss3831526419, ss3839277593, ss5191993031, ss5646864370, ss5828821950, ss5976133888	NC_000009.11:8856540::AT	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	(self)
ss1710412634, ss1710412716	NC_000009.11:8856542::AT	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	(self)
58971914, 68855367, ss3812048753, ss3844739602, ss4197214537, ss5279723997, ss5476014324, ss5571445979, ss5735018263, ss5810326468, ss5915443122	NC_000009.12:8856540::AT	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	(self)
4502920248	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	(self)
ss3723436719	NC_000009.12:8856542::AT	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA	(self)
ss4197214538	NC_000009.12:8856540::ATAT	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATATA	(self)
4502920248	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATATA	NC_000009.12:8856540:ATATATATATATA… NC_000009.12:8856540:ATATATATATATA:ATATATATATATATATA	(self)

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

No publications for rs143084012

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

rs143084012