Name: rs143645269
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.

rs143645269

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:6226214 (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: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.001418 (283/199534, ALFA)
T=0.000863 (121/140262, GnomAD)
T=0.001127 (135/119804, ExAC) (+ 11 more)
T=0.00089 (70/78698, PAGE_STUDY)
T=0.00004 (1/28256, 14KJPN)
T=0.00006 (1/16758, 8.3KJPN)
T=0.00077 (10/13006, GO-ESP)
T=0.0017 (11/6404, 1000G_30x)
T=0.0020 (10/5008, 1000G)
T=0.0008 (3/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
T=0.004 (2/534, MGP)
C=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PFKFB3 : Missense 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	215946	C=0.998602	A=0.000000, T=0.001398
European	Sub	180040	C=0.998523	A=0.000000, T=0.001477
African	Sub	9810	C=0.9998	A=0.0000, T=0.0002
African Others	Sub	360	C=1.000	A=0.000, T=0.000
African American	Sub	9450	C=0.9998	A=0.0000, T=0.0002
Asian	Sub	6354	C=1.0000	A=0.0000, T=0.0000
East Asian	Sub	4504	C=1.0000	A=0.0000, T=0.0000
Other Asian	Sub	1850	C=1.0000	A=0.0000, T=0.0000
Latin American 1	Sub	802	C=0.996	A=0.000, T=0.004
Latin American 2	Sub	974	C=1.000	A=0.000, T=0.000
South Asian	Sub	280	C=0.996	A=0.000, T=0.004
Other	Sub	17686	C=0.99830	A=0.00000, T=0.00170

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	199534	C=0.998582	A=0.000000, T=0.001418
Allele Frequency Aggregator	European	Sub	169900	C=0.998534	A=0.000000, T=0.001466
Allele Frequency Aggregator	Other	Sub	16252	C=0.99822	A=0.00000, T=0.00178
Allele Frequency Aggregator	Asian	Sub	6354	C=1.0000	A=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	4972	C=0.9998	A=0.0000, T=0.0002
Allele Frequency Aggregator	Latin American 2	Sub	974	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	802	C=0.996	A=0.000, T=0.004
Allele Frequency Aggregator	South Asian	Sub	280	C=0.996	A=0.000, T=0.004
gnomAD - Genomes	Global	Study-wide	140262	C=0.999137	T=0.000863
gnomAD - Genomes	European	Sub	75962	C=0.99885	T=0.00115
gnomAD - Genomes	African	Sub	42036	C=0.99967	T=0.00033
gnomAD - Genomes	American	Sub	13658	C=0.99890	T=0.00110
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9997	T=0.0003
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2150	C=0.9981	T=0.0019
ExAC	Global	Study-wide	119804	C=0.998873	T=0.001127
ExAC	Europe	Sub	72810	C=0.99857	T=0.00143
ExAC	Asian	Sub	24146	C=0.99975	T=0.00025
ExAC	American	Sub	11570	C=0.99862	T=0.00138
ExAC	African	Sub	10390	C=0.99942	T=0.00058
ExAC	Other	Sub	888	C=0.997	T=0.003
The PAGE Study	Global	Study-wide	78698	C=0.99911	T=0.00089
The PAGE Study	AfricanAmerican	Sub	32514	C=0.99954	T=0.00046
The PAGE Study	Mexican	Sub	10808	C=0.99787	T=0.00213
The PAGE Study	Asian	Sub	8318	C=1.0000	T=0.0000
The PAGE Study	PuertoRican	Sub	7918	C=0.9990	T=0.0010
The PAGE Study	NativeHawaiian	Sub	4534	C=1.0000	T=0.0000
The PAGE Study	Cuban	Sub	4230	C=0.9986	T=0.0014
The PAGE Study	Dominican	Sub	3828	C=0.9969	T=0.0031
The PAGE Study	CentralAmerican	Sub	2450	C=0.9992	T=0.0008
The PAGE Study	SouthAmerican	Sub	1982	C=0.9995	T=0.0005
The PAGE Study	NativeAmerican	Sub	1260	C=0.9984	T=0.0016
The PAGE Study	SouthAsian	Sub	856	C=0.999	T=0.001
14KJPN	JAPANESE	Study-wide	28256	C=0.99996	T=0.00004
8.3KJPN	JAPANESE	Study-wide	16758	C=0.99994	T=0.00006
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.99923	T=0.00077
GO Exome Sequencing Project	European American	Sub	8600	C=0.9990	T=0.0010
GO Exome Sequencing Project	African American	Sub	4406	C=0.9998	T=0.0002
1000Genomes_30x	Global	Study-wide	6404	C=0.9983	T=0.0017
1000Genomes_30x	African	Sub	1786	C=0.9966	T=0.0034
1000Genomes_30x	Europe	Sub	1266	C=0.9984	T=0.0016
1000Genomes_30x	South Asian	Sub	1202	C=0.9992	T=0.0008
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.998	T=0.002
1000Genomes	Global	Study-wide	5008	C=0.9980	T=0.0020
1000Genomes	African	Sub	1322	C=0.9955	T=0.0045
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9990	T=0.0010
1000Genomes	South Asian	Sub	978	C=0.999	T=0.001
1000Genomes	American	Sub	694	C=0.997	T=0.003
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9992	T=0.0008
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9997	T=0.0003
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.996	T=0.004
SGDP_PRJ	Global	Study-wide	6	C=0.5	T=0.5

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 10	NC_000010.11:g.6226214C>A
GRCh38.p14 chr 10	NC_000010.11:g.6226214C>T
GRCh37.p13 chr 10	NC_000010.10:g.6268177C>A
GRCh37.p13 chr 10	NC_000010.10:g.6268177C>T

Gene: PFKFB3, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PFKFB3 transcript variant 1	NM_004566.4:c.1364C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1	NP_004557.1:p.Pro455Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant 1	NM_004566.4:c.1364C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1	NP_004557.1:p.Pro455Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant 4	NM_001314063.2:c.1364C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4	NP_001300992.1:p.Pro455Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant 4	NM_001314063.2:c.1364C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4	NP_001300992.1:p.Pro455Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant 2	NM_001145443.3:c.1304C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2	NP_001138915.1:p.Pro435Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant 2	NM_001145443.3:c.1304C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2	NP_001138915.1:p.Pro435Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant 8	NM_001363545.2:c.1364C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7	NP_001350474.1:p.Pro455Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant 8	NM_001363545.2:c.1364C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7	NP_001350474.1:p.Pro455Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant 6	NM_001323017.2:c.815C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6	NP_001309946.1:p.Pro272Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant 6	NM_001323017.2:c.815C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6	NP_001309946.1:p.Pro272Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant 5	NM_001323016.2:c.1304C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5	NP_001309945.1:p.Pro435Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant 5	NM_001323016.2:c.1304C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5	NP_001309945.1:p.Pro435Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant 3	NM_001282630.3:c.1406C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3	NP_001269559.1:p.Pro469Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant 3	NM_001282630.3:c.1406C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3	NP_001269559.1:p.Pro469Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant 7	NR_136554.2:n.1131C>A	N/A	Non Coding Transcript Variant
PFKFB3 transcript variant 7	NR_136554.2:n.1131C>T	N/A	Non Coding Transcript Variant
PFKFB3 transcript variant X8	XM_005252464.2:c.1341+200… XM_005252464.2:c.1341+2001C>A	N/A	Intron Variant
PFKFB3 transcript variant X10	XM_011519493.2:c.1236+200… XM_011519493.2:c.1236+2001C>A	N/A	Intron Variant
PFKFB3 transcript variant X9	XM_047425347.1:c.1281+200… XM_047425347.1:c.1281+2001C>A	N/A	Intron Variant
PFKFB3 transcript variant X1	XM_017016329.2:c.1307C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1	XP_016871818.1:p.Pro436Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X1	XM_017016329.2:c.1307C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1	XP_016871818.1:p.Pro436Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant X2	XM_047425341.1:c.1304C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2	XP_047281297.1:p.Pro435Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X2	XM_047425341.1:c.1304C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2	XP_047281297.1:p.Pro435Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant X3	XM_047425342.1:c.1259C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X3	XP_047281298.1:p.Pro420Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X3	XM_047425342.1:c.1259C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X3	XP_047281298.1:p.Pro420Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant X4	XM_047425343.1:c.1247C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4	XP_047281299.1:p.Pro416Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X4	XM_047425343.1:c.1247C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4	XP_047281299.1:p.Pro416Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant X5	XM_047425344.1:c.1259C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5	XP_047281300.1:p.Pro420Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X5	XM_047425344.1:c.1259C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5	XP_047281300.1:p.Pro420Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant X6	XM_047425345.1:c.1202C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X6	XP_047281301.1:p.Pro401Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X6	XM_047425345.1:c.1202C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X6	XP_047281301.1:p.Pro401Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant X7	XM_047425346.1:c.1199C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X7	XP_047281302.1:p.Pro400Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X7	XM_047425346.1:c.1199C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X7	XP_047281302.1:p.Pro400Leu	P (Pro) > L (Leu)	Missense Variant
PFKFB3 transcript variant X11	XM_047425349.1:c.815C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11	XP_047281305.1:p.Pro272Gln	P (Pro) > Q (Gln)	Missense Variant
PFKFB3 transcript variant X11	XM_047425349.1:c.815C>T	P [CCG] > L [CTG]	Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11	XP_047281305.1:p.Pro272Leu	P (Pro) > L (Leu)	Missense 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	C=	A	T
GRCh38.p14 chr 10	NC_000010.11:g.6226214=	NC_000010.11:g.6226214C>A	NC_000010.11:g.6226214C>T
GRCh37.p13 chr 10	NC_000010.10:g.6268177=	NC_000010.10:g.6268177C>A	NC_000010.10:g.6268177C>T
PFKFB3 transcript variant 1	NM_004566.4:c.1364=	NM_004566.4:c.1364C>A	NM_004566.4:c.1364C>T
PFKFB3 transcript variant 1	NM_004566.3:c.1364=	NM_004566.3:c.1364C>A	NM_004566.3:c.1364C>T
PFKFB3 transcript variant 3	NM_001282630.3:c.1406=	NM_001282630.3:c.1406C>A	NM_001282630.3:c.1406C>T
PFKFB3 transcript variant 3	NM_001282630.2:c.1406=	NM_001282630.2:c.1406C>A	NM_001282630.2:c.1406C>T
PFKFB3 transcript variant 3	NM_001282630.1:c.1406=	NM_001282630.1:c.1406C>A	NM_001282630.1:c.1406C>T
PFKFB3 transcript variant 2	NM_001145443.3:c.1304=	NM_001145443.3:c.1304C>A	NM_001145443.3:c.1304C>T
PFKFB3 transcript variant 2	NM_001145443.2:c.1304=	NM_001145443.2:c.1304C>A	NM_001145443.2:c.1304C>T
PFKFB3 transcript variant 2	NM_001145443.1:c.1304=	NM_001145443.1:c.1304C>A	NM_001145443.1:c.1304C>T
PFKFB3 transcript variant 6	NM_001323017.2:c.815=	NM_001323017.2:c.815C>A	NM_001323017.2:c.815C>T
PFKFB3 transcript variant 6	NM_001323017.1:c.815=	NM_001323017.1:c.815C>A	NM_001323017.1:c.815C>T
PFKFB3 transcript variant 4	NM_001314063.2:c.1364=	NM_001314063.2:c.1364C>A	NM_001314063.2:c.1364C>T
PFKFB3 transcript variant 4	NM_001314063.1:c.1364=	NM_001314063.1:c.1364C>A	NM_001314063.1:c.1364C>T
PFKFB3 transcript variant X1	XM_017016329.2:c.1307=	XM_017016329.2:c.1307C>A	XM_017016329.2:c.1307C>T
PFKFB3 transcript variant X5	XM_017016329.1:c.1307=	XM_017016329.1:c.1307C>A	XM_017016329.1:c.1307C>T
PFKFB3 transcript variant 5	NM_001323016.2:c.1304=	NM_001323016.2:c.1304C>A	NM_001323016.2:c.1304C>T
PFKFB3 transcript variant 5	NM_001323016.1:c.1304=	NM_001323016.1:c.1304C>A	NM_001323016.1:c.1304C>T
PFKFB3 transcript variant 7	NR_136554.2:n.1131=	NR_136554.2:n.1131C>A	NR_136554.2:n.1131C>T
PFKFB3 transcript variant 7	NR_136554.1:n.1174=	NR_136554.1:n.1174C>A	NR_136554.1:n.1174C>T
PFKFB3 transcript variant 8	NM_001363545.2:c.1364=	NM_001363545.2:c.1364C>A	NM_001363545.2:c.1364C>T
PFKFB3 transcript variant 8	NM_001363545.1:c.1364=	NM_001363545.1:c.1364C>A	NM_001363545.1:c.1364C>T
PFKFB3 transcript variant X5	XM_047425344.1:c.1259=	XM_047425344.1:c.1259C>A	XM_047425344.1:c.1259C>T
PFKFB3 transcript variant X3	XM_047425342.1:c.1259=	XM_047425342.1:c.1259C>A	XM_047425342.1:c.1259C>T
PFKFB3 transcript variant X6	XM_047425345.1:c.1202=	XM_047425345.1:c.1202C>A	XM_047425345.1:c.1202C>T
PFKFB3 transcript variant X4	XM_047425343.1:c.1247=	XM_047425343.1:c.1247C>A	XM_047425343.1:c.1247C>T
PFKFB3 transcript variant X7	XM_047425346.1:c.1199=	XM_047425346.1:c.1199C>A	XM_047425346.1:c.1199C>T
PFKFB3 transcript variant X11	XM_047425349.1:c.815=	XM_047425349.1:c.815C>A	XM_047425349.1:c.815C>T
PFKFB3 transcript variant X2	XM_047425341.1:c.1304=	XM_047425341.1:c.1304C>A	XM_047425341.1:c.1304C>T
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1	NP_004557.1:p.Pro455=	NP_004557.1:p.Pro455Gln	NP_004557.1:p.Pro455Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3	NP_001269559.1:p.Pro469=	NP_001269559.1:p.Pro469Gln	NP_001269559.1:p.Pro469Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2	NP_001138915.1:p.Pro435=	NP_001138915.1:p.Pro435Gln	NP_001138915.1:p.Pro435Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6	NP_001309946.1:p.Pro272=	NP_001309946.1:p.Pro272Gln	NP_001309946.1:p.Pro272Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4	NP_001300992.1:p.Pro455=	NP_001300992.1:p.Pro455Gln	NP_001300992.1:p.Pro455Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1	XP_016871818.1:p.Pro436=	XP_016871818.1:p.Pro436Gln	XP_016871818.1:p.Pro436Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5	NP_001309945.1:p.Pro435=	NP_001309945.1:p.Pro435Gln	NP_001309945.1:p.Pro435Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7	NP_001350474.1:p.Pro455=	NP_001350474.1:p.Pro455Gln	NP_001350474.1:p.Pro455Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5	XP_047281300.1:p.Pro420=	XP_047281300.1:p.Pro420Gln	XP_047281300.1:p.Pro420Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X3	XP_047281298.1:p.Pro420=	XP_047281298.1:p.Pro420Gln	XP_047281298.1:p.Pro420Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X6	XP_047281301.1:p.Pro401=	XP_047281301.1:p.Pro401Gln	XP_047281301.1:p.Pro401Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4	XP_047281299.1:p.Pro416=	XP_047281299.1:p.Pro416Gln	XP_047281299.1:p.Pro416Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X7	XP_047281302.1:p.Pro400=	XP_047281302.1:p.Pro400Gln	XP_047281302.1:p.Pro400Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11	XP_047281305.1:p.Pro272=	XP_047281305.1:p.Pro272Gln	XP_047281305.1:p.Pro272Leu
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2	XP_047281297.1:p.Pro435=	XP_047281297.1:p.Pro435Gln	XP_047281297.1:p.Pro435Leu
PFKFB3 transcript variant X6	XM_005252464.1:c.1341+2001=	XM_005252464.1:c.1341+2001C>A	XM_005252464.1:c.1341+2001C>T
PFKFB3 transcript variant X8	XM_005252464.2:c.1341+2001=	XM_005252464.2:c.1341+2001C>A	XM_005252464.2:c.1341+2001C>T
PFKFB3 transcript variant X10	XM_011519493.2:c.1236+2001=	XM_011519493.2:c.1236+2001C>A	XM_011519493.2:c.1236+2001C>T
PFKFB3 transcript variant X9	XM_047425347.1:c.1281+2001=	XM_047425347.1:c.1281+2001C>A	XM_047425347.1:c.1281+2001C>T

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#.

53 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss335918197	May 09, 2011 (134)
2	NHLBI-ESP	ss342292065	May 09, 2011 (134)
3	1000GENOMES	ss490991930	May 04, 2012 (137)
4	EXOME_CHIP	ss491432290	May 04, 2012 (137)
5	CLINSEQ_SNP	ss491620943	May 04, 2012 (137)
6	ILLUMINA	ss535238791	Sep 08, 2015 (146)
7	ILLUMINA	ss780884180	Sep 08, 2015 (146)
8	ILLUMINA	ss783570199	Sep 08, 2015 (146)
9	1000GENOMES	ss1336128628	Aug 21, 2014 (142)
10	EVA_UK10K_ALSPAC	ss1623910924	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1666904957	Apr 01, 2015 (144)
12	EVA_EXAC	ss1689807057	Apr 01, 2015 (144)
13	EVA_MGP	ss1711246947	Apr 01, 2015 (144)
14	ILLUMINA	ss1751975014	Sep 08, 2015 (146)
15	ILLUMINA	ss1917844448	Feb 12, 2016 (147)
16	ILLUMINA	ss1946275111	Feb 12, 2016 (147)
17	ILLUMINA	ss1959236876	Feb 12, 2016 (147)
18	JJLAB	ss2025962014	Sep 14, 2016 (149)
19	HUMAN_LONGEVITY	ss2172355396	Dec 20, 2016 (150)
20	GNOMAD	ss2738098453	Nov 08, 2017 (151)
21	GNOMAD	ss2748342298	Nov 08, 2017 (151)
22	GNOMAD	ss2885101179	Nov 08, 2017 (151)
23	AFFY	ss2984904461	Nov 08, 2017 (151)
24	ILLUMINA	ss3021210772	Nov 08, 2017 (151)
25	ILLUMINA	ss3626378040	Oct 12, 2018 (152)
26	ILLUMINA	ss3626378041	Oct 12, 2018 (152)
27	ILLUMINA	ss3634388369	Oct 12, 2018 (152)
28	ILLUMINA	ss3640095717	Oct 12, 2018 (152)
29	ILLUMINA	ss3644527783	Oct 12, 2018 (152)
30	ILLUMINA	ss3651558664	Oct 12, 2018 (152)
31	ILLUMINA	ss3653674126	Oct 12, 2018 (152)
32	ILLUMINA	ss3725132281	Jul 13, 2019 (153)
33	ILLUMINA	ss3744363868	Jul 13, 2019 (153)
34	ILLUMINA	ss3744689243	Jul 13, 2019 (153)
35	EVA	ss3747699148	Jul 13, 2019 (153)
36	PAGE_CC	ss3771539468	Jul 13, 2019 (153)
37	ILLUMINA	ss3772189956	Jul 13, 2019 (153)
38	EVA	ss3824498807	Apr 26, 2020 (154)
39	EVA	ss3825770767	Apr 26, 2020 (154)
40	SGDP_PRJ	ss3873452720	Apr 26, 2020 (154)
41	EVA	ss3986475330	Apr 26, 2021 (155)
42	TOPMED	ss4841231584	Apr 26, 2021 (155)
43	TOPMED	ss4841231585	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5196095020	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5282787901	Oct 16, 2022 (156)
46	EVA	ss5391358595	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5478579125	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5576114568	Oct 16, 2022 (156)
49	SANFORD_IMAGENETICS	ss5648601187	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5740893768	Oct 16, 2022 (156)
51	EVA	ss5847585571	Oct 16, 2022 (156)
52	EVA	ss5877588215	Oct 16, 2022 (156)
53	EVA	ss5939882341	Oct 16, 2022 (156)
54	1000Genomes	NC_000010.10 - 6268177	Oct 12, 2018 (152)
55	1000Genomes_30x	NC_000010.11 - 6226214	Oct 16, 2022 (156)
56	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 6268177	Oct 12, 2018 (152)
57	ExAC	NC_000010.10 - 6268177	Oct 12, 2018 (152)
58	gnomAD - Genomes	NC_000010.11 - 6226214	Apr 26, 2021 (155)
59	gnomAD - Exomes Submission ignored due to conflicting rows: Row 7291854 (NC_000010.10:6268176:C:C 245529/245530, NC_000010.10:6268176:C:A 1/245530) Row 7291855 (NC_000010.10:6268176:C:C 245307/245530, NC_000010.10:6268176:C:T 223/245530)	-	Jul 13, 2019 (153)
60	gnomAD - Exomes Submission ignored due to conflicting rows: Row 7291854 (NC_000010.10:6268176:C:C 245529/245530, NC_000010.10:6268176:C:A 1/245530) Row 7291855 (NC_000010.10:6268176:C:C 245307/245530, NC_000010.10:6268176:C:T 223/245530)	-	Jul 13, 2019 (153)
61	GO Exome Sequencing Project	NC_000010.10 - 6268177	Oct 12, 2018 (152)
62	Medical Genome Project healthy controls from Spanish population	NC_000010.10 - 6268177	Apr 26, 2020 (154)
63	The PAGE Study	NC_000010.11 - 6226214	Jul 13, 2019 (153)
64	SGDP_PRJ	NC_000010.10 - 6268177	Apr 26, 2020 (154)
65	8.3KJPN	NC_000010.10 - 6268177	Apr 26, 2021 (155)
66	14KJPN	NC_000010.11 - 6226214	Oct 16, 2022 (156)
67	TopMed Submission ignored due to conflicting rows: Row 56777239 (NC_000010.11:6226213:C:A 2/264690) Row 56777240 (NC_000010.11:6226213:C:T 286/264690)	-	Apr 26, 2021 (155)
68	TopMed Submission ignored due to conflicting rows: Row 56777239 (NC_000010.11:6226213:C:A 2/264690) Row 56777240 (NC_000010.11:6226213:C:T 286/264690)	-	Apr 26, 2021 (155)
69	UK 10K study - Twins	NC_000010.10 - 6268177	Oct 12, 2018 (152)
70	ALFA	NC_000010.11 - 6226214	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2738098453	NC_000010.10:6268176:C:A	NC_000010.11:6226213:C:A	(self)
10716413959, ss4841231584	NC_000010.11:6226213:C:A	NC_000010.11:6226213:C:A	(self)
ss491620943	NC_000010.9:6308182:C:T	NC_000010.11:6226213:C:T	(self)
48469892, 26931248, 20409, 956530, 362707, 25469700, 54064327, 26931248, ss335918197, ss342292065, ss490991930, ss491432290, ss535238791, ss780884180, ss783570199, ss1336128628, ss1623910924, ss1666904957, ss1689807057, ss1711246947, ss1751975014, ss1917844448, ss1946275111, ss1959236876, ss2025962014, ss2738098453, ss2748342298, ss2885101179, ss2984904461, ss3021210772, ss3626378040, ss3626378041, ss3634388369, ss3640095717, ss3644527783, ss3651558664, ss3653674126, ss3744363868, ss3744689243, ss3747699148, ss3772189956, ss3824498807, ss3825770767, ss3873452720, ss3986475330, ss5196095020, ss5391358595, ss5648601187, ss5847585571, ss5939882341	NC_000010.10:6268176:C:T	NC_000010.11:6226213:C:T	(self)
63640503, 342405910, 760937, 74730872, 10716413959, ss2172355396, ss3725132281, ss3771539468, ss4841231585, ss5282787901, ss5478579125, ss5576114568, ss5740893768, ss5877588215	NC_000010.11:6226213:C:T	NC_000010.11:6226213:C:T	(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 rs143645269

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

rs143645269