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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the 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.

rs1470573639

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:8823434-8823435 (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
ins(A)12
Variation Type
Insertion
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PIK3R6 : Inframe Insertion
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

None
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 17 NC_000017.11:g.8823434_8823435insAAAAAAAAAAAA
GRCh37.p13 chr 17 NC_000017.10:g.8726751_8726752insAAAAAAAAAAAA
PIK3R6 RefSeqGene NG_033091.1:g.49243_49244insTTTTTTTTTTTT
Gene: PIK3R6, phosphoinositide-3-kinase regulatory subunit 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PIK3R6 transcript variant 2 NM_001290211.1:c.1170_117…

NM_001290211.1:c.1170_1171insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform 2 NP_001277140.1:p.Ile391_A…

NP_001277140.1:p.Ile391_Arg392insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant 1 NM_001010855.4:c.1578_157…

NM_001010855.4:c.1578_1579insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform 1 NP_001010855.1:p.Ile527_A…

NP_001010855.1:p.Ile527_Arg528insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant 3 NR_110865.1:n.1913_1914in…

NR_110865.1:n.1913_1914insTTTTTTTTTTTT

N/A Non Coding Transcript Variant
PIK3R6 transcript variant X20 XM_047435458.1:c. N/A Genic Downstream Transcript Variant
PIK3R6 transcript variant X1 XM_047435443.1:c.1578_157…

XM_047435443.1:c.1578_1579insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X1 XP_047291399.1:p.Ile527_A…

XP_047291399.1:p.Ile527_Arg528insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X2 XM_011523677.3:c.1575_157…

XM_011523677.3:c.1575_1576insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X2 XP_011521979.1:p.Ile526_A…

XP_011521979.1:p.Ile526_Arg527insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X3 XM_011523678.3:c.1563_156…

XM_011523678.3:c.1563_1564insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X3 XP_011521980.1:p.Ile522_A…

XP_011521980.1:p.Ile522_Arg523insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X4 XM_047435444.1:c.1560_156…

XM_047435444.1:c.1560_1561insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X4 XP_047291400.1:p.Ile521_A…

XP_047291400.1:p.Ile521_Arg522insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X5 XM_047435446.1:c.1575_157…

XM_047435446.1:c.1575_1576insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X5 XP_047291402.1:p.Ile526_A…

XP_047291402.1:p.Ile526_Arg527insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X6 XM_047435447.1:c.1563_156…

XM_047435447.1:c.1563_1564insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X6 XP_047291403.1:p.Ile522_A…

XP_047291403.1:p.Ile522_Arg523insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X7 XM_047435448.1:c.1560_156…

XM_047435448.1:c.1560_1561insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X7 XP_047291404.1:p.Ile521_A…

XP_047291404.1:p.Ile521_Arg522insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X8 XM_047435449.1:c.1578_157…

XM_047435449.1:c.1578_1579insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X8 XP_047291405.1:p.Ile527_A…

XP_047291405.1:p.Ile527_Arg528insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X9 XM_011523680.3:c.1455_145…

XM_011523680.3:c.1455_1456insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X9 XP_011521982.1:p.Ile486_A…

XP_011521982.1:p.Ile486_Arg487insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X10 XM_047435450.1:c.1440_144…

XM_047435450.1:c.1440_1441insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X10 XP_047291406.1:p.Ile481_A…

XP_047291406.1:p.Ile481_Arg482insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X11 XM_047435451.1:c.1455_145…

XM_047435451.1:c.1455_1456insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X11 XP_047291407.1:p.Ile486_A…

XP_047291407.1:p.Ile486_Arg487insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X12 XM_047435452.1:c.1440_144…

XM_047435452.1:c.1440_1441insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X12 XP_047291408.1:p.Ile481_A…

XP_047291408.1:p.Ile481_Arg482insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X13 XM_047435453.1:c.1338_133…

XM_047435453.1:c.1338_1339insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X13 XP_047291409.1:p.Ile447_A…

XP_047291409.1:p.Ile447_Arg448insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X14 XM_047435454.1:c.1338_133…

XM_047435454.1:c.1338_1339insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X13 XP_047291410.1:p.Ile447_A…

XP_047291410.1:p.Ile447_Arg448insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X15 XM_011523683.3:c.1338_133…

XM_011523683.3:c.1338_1339insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X13 XP_011521985.1:p.Ile447_A…

XP_011521985.1:p.Ile447_Arg448insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X16 XM_047435456.1:c.1578_157…

XM_047435456.1:c.1578_1579insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X14 XP_047291412.1:p.Ile527_A…

XP_047291412.1:p.Ile527_Arg528insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X17 XM_047435457.1:c.1338_133…

XM_047435457.1:c.1338_1339insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X15 XP_047291413.1:p.Ile447_A…

XP_047291413.1:p.Ile447_Arg448insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X19 XM_011523686.3:c.711_712i…

XM_011523686.3:c.711_712insTTTTTTTTTTTT

[ATC] > FFFF [TTTTTTTTTTT...

[ATC] > FFFF [TTTTTTTTTTTTATC]

Coding Sequence Variant
phosphoinositide 3-kinase regulatory subunit 6 isoform X16 XP_011521988.1:p.Ile238_A…

XP_011521988.1:p.Ile238_Arg239insPhePhePhePhe

() > FFFF (PhePhePhePhe) Inframe Insertion
PIK3R6 transcript variant X18 XR_007065269.1:n.1892_189…

XR_007065269.1:n.1892_1893insTTTTTTTTTTTT

N/A Non Coding Transcript Variant
Help

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

Not Reported in ClinVar
Help

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 = ins(A)12
GRCh38.p14 chr 17 NC_000017.11:g.8823434_8823435= NC_000017.11:g.8823434_8823435insAAAAAAAAAAAA
GRCh37.p13 chr 17 NC_000017.10:g.8726751_8726752= NC_000017.10:g.8726751_8726752insAAAAAAAAAAAA
PIK3R6 RefSeqGene NG_033091.1:g.49243_49244= NG_033091.1:g.49243_49244insTTTTTTTTTTTT
PIK3R6 transcript variant 1 NM_001010855.4:c.1578_1579= NM_001010855.4:c.1578_1579insTTTTTTTTTTTT
PIK3R6 transcript variant 1 NM_001010855.3:c.1578_1579= NM_001010855.3:c.1578_1579insTTTTTTTTTTTT
PIK3R6 transcript NM_001010855.2:c.1578_1579= NM_001010855.2:c.1578_1579insTTTTTTTTTTTT
PIK3R6 transcript variant 2 NM_001290211.1:c.1170_1171= NM_001290211.1:c.1170_1171insTTTTTTTTTTTT
PIK3R6 transcript variant 3 NR_110865.1:n.1913_1914= NR_110865.1:n.1913_1914insTTTTTTTTTTTT
PIK3R6 transcript variant X2 XM_011523677.3:c.1575_1576= XM_011523677.3:c.1575_1576insTTTTTTTTTTTT
PIK3R6 transcript variant X2 XM_011523677.2:c.1575_1576= XM_011523677.2:c.1575_1576insTTTTTTTTTTTT
PIK3R6 transcript variant X2 XM_011523677.1:c.1575_1576= XM_011523677.1:c.1575_1576insTTTTTTTTTTTT
PIK3R6 transcript variant X3 XM_011523678.3:c.1563_1564= XM_011523678.3:c.1563_1564insTTTTTTTTTTTT
PIK3R6 transcript variant X3 XM_011523678.2:c.1563_1564= XM_011523678.2:c.1563_1564insTTTTTTTTTTTT
PIK3R6 transcript variant X3 XM_011523678.1:c.1563_1564= XM_011523678.1:c.1563_1564insTTTTTTTTTTTT
PIK3R6 transcript variant X9 XM_011523680.3:c.1455_1456= XM_011523680.3:c.1455_1456insTTTTTTTTTTTT
PIK3R6 transcript variant X5 XM_011523680.2:c.1455_1456= XM_011523680.2:c.1455_1456insTTTTTTTTTTTT
PIK3R6 transcript variant X5 XM_011523680.1:c.1455_1456= XM_011523680.1:c.1455_1456insTTTTTTTTTTTT
PIK3R6 transcript variant X15 XM_011523683.3:c.1338_1339= XM_011523683.3:c.1338_1339insTTTTTTTTTTTT
PIK3R6 transcript variant X9 XM_011523683.2:c.1338_1339= XM_011523683.2:c.1338_1339insTTTTTTTTTTTT
PIK3R6 transcript variant X8 XM_011523683.1:c.1338_1339= XM_011523683.1:c.1338_1339insTTTTTTTTTTTT
PIK3R6 transcript variant X19 XM_011523686.3:c.711_712= XM_011523686.3:c.711_712insTTTTTTTTTTTT
PIK3R6 transcript variant X11 XM_011523686.2:c.711_712= XM_011523686.2:c.711_712insTTTTTTTTTTTT
PIK3R6 transcript variant X12 XM_011523686.1:c.711_712= XM_011523686.1:c.711_712insTTTTTTTTTTTT
PIK3R6 transcript variant X5 XM_047435446.1:c.1575_1576= XM_047435446.1:c.1575_1576insTTTTTTTTTTTT
PIK3R6 transcript variant X6 XM_047435447.1:c.1563_1564= XM_047435447.1:c.1563_1564insTTTTTTTTTTTT
PIK3R6 transcript variant X7 XM_047435448.1:c.1560_1561= XM_047435448.1:c.1560_1561insTTTTTTTTTTTT
PIK3R6 transcript variant X1 XM_047435443.1:c.1578_1579= XM_047435443.1:c.1578_1579insTTTTTTTTTTTT
PIK3R6 transcript variant X11 XM_047435451.1:c.1455_1456= XM_047435451.1:c.1455_1456insTTTTTTTTTTTT
PIK3R6 transcript variant X4 XM_047435444.1:c.1560_1561= XM_047435444.1:c.1560_1561insTTTTTTTTTTTT
PIK3R6 transcript variant X12 XM_047435452.1:c.1440_1441= XM_047435452.1:c.1440_1441insTTTTTTTTTTTT
PIK3R6 transcript variant X17 XM_047435457.1:c.1338_1339= XM_047435457.1:c.1338_1339insTTTTTTTTTTTT
PIK3R6 transcript variant X10 XM_047435450.1:c.1440_1441= XM_047435450.1:c.1440_1441insTTTTTTTTTTTT
PIK3R6 transcript variant X13 XM_047435453.1:c.1338_1339= XM_047435453.1:c.1338_1339insTTTTTTTTTTTT
PIK3R6 transcript variant X8 XM_047435449.1:c.1578_1579= XM_047435449.1:c.1578_1579insTTTTTTTTTTTT
PIK3R6 transcript variant X14 XM_047435454.1:c.1338_1339= XM_047435454.1:c.1338_1339insTTTTTTTTTTTT
PIK3R6 transcript variant X16 XM_047435456.1:c.1578_1579= XM_047435456.1:c.1578_1579insTTTTTTTTTTTT
PIK3R6 transcript variant X18 XR_007065269.1:n.1892_1893= XR_007065269.1:n.1892_1893insTTTTTTTTTTTT
phosphoinositide 3-kinase regulatory subunit 6 isoform 1 NP_001010855.1:p.Ile527_Arg528= NP_001010855.1:p.Ile527_Arg528insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform 2 NP_001277140.1:p.Ile391_Arg392= NP_001277140.1:p.Ile391_Arg392insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X2 XP_011521979.1:p.Ile526_Arg527= XP_011521979.1:p.Ile526_Arg527insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X3 XP_011521980.1:p.Ile522_Arg523= XP_011521980.1:p.Ile522_Arg523insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X9 XP_011521982.1:p.Ile486_Arg487= XP_011521982.1:p.Ile486_Arg487insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X13 XP_011521985.1:p.Ile447_Arg448= XP_011521985.1:p.Ile447_Arg448insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X16 XP_011521988.1:p.Ile238_Arg239= XP_011521988.1:p.Ile238_Arg239insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X5 XP_047291402.1:p.Ile526_Arg527= XP_047291402.1:p.Ile526_Arg527insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X6 XP_047291403.1:p.Ile522_Arg523= XP_047291403.1:p.Ile522_Arg523insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X7 XP_047291404.1:p.Ile521_Arg522= XP_047291404.1:p.Ile521_Arg522insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X1 XP_047291399.1:p.Ile527_Arg528= XP_047291399.1:p.Ile527_Arg528insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X11 XP_047291407.1:p.Ile486_Arg487= XP_047291407.1:p.Ile486_Arg487insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X4 XP_047291400.1:p.Ile521_Arg522= XP_047291400.1:p.Ile521_Arg522insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X12 XP_047291408.1:p.Ile481_Arg482= XP_047291408.1:p.Ile481_Arg482insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X15 XP_047291413.1:p.Ile447_Arg448= XP_047291413.1:p.Ile447_Arg448insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X10 XP_047291406.1:p.Ile481_Arg482= XP_047291406.1:p.Ile481_Arg482insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X13 XP_047291409.1:p.Ile447_Arg448= XP_047291409.1:p.Ile447_Arg448insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X8 XP_047291405.1:p.Ile527_Arg528= XP_047291405.1:p.Ile527_Arg528insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X13 XP_047291410.1:p.Ile447_Arg448= XP_047291410.1:p.Ile447_Arg448insPhePhePhePhe
phosphoinositide 3-kinase regulatory subunit 6 isoform X14 XP_047291412.1:p.Ile527_Arg528= XP_047291412.1:p.Ile527_Arg528insPhePhePhePhe
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP submission
No Submitter Submission ID Date (Build)
1 GNOMAD ss2749690175 Nov 08, 2017 (151)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2749690175 NC_000017.10:8726751::AAAAAAAAAAAA NC_000017.11:8823434::AAAAAAAAAAAA (self)
Help

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

No publications for rs1470573639

Help

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
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d