Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1439180647

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:19594976 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000005 (1/183437, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SH3KBP1 : Missense Variant
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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 183437 A=0.999995 G=0.000005
gnomAD - Exomes European Sub 97908 A=1.00000 G=0.00000
gnomAD - Exomes Asian Sub 32940 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 27415 A=0.99996 G=0.00004
gnomAD - Exomes African Sub 13158 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 7485 A=1.0000 G=0.0000
gnomAD - Exomes Other Sub 4531 A=1.0000 G=0.0000
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 X NC_000023.11:g.19594976A>G
GRCh37.p13 chr X NC_000023.10:g.19613094A>G
SH3KBP1 RefSeqGene NG_021367.1:g.297651T>C
Gene: SH3KBP1, SH3 domain containing kinase binding protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SH3KBP1 transcript variant 1 NM_031892.3:c.1030T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform a NP_114098.1:p.Ser344Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 5 NM_001353891.2:c.1105T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform e NP_001340820.1:p.Ser369Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 2 NM_001024666.3:c.919T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform b NP_001019837.1:p.Ser307Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 10 NM_001353897.2:c.316T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform j NP_001340826.1:p.Ser106Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 6 NM_001353892.2:c.1105T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform f NP_001340821.1:p.Ser369Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 4 NM_001353890.2:c.1030T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform d NP_001340819.1:p.Ser344Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 3 NM_001184960.2:c.316T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform c NP_001171889.1:p.Ser106Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 8 NM_001353894.2:c.928T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform h NP_001340823.1:p.Ser310Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 9 NM_001353895.2:c.985T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform i NP_001340824.1:p.Ser329Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant 7 NM_001353893.2:c.928T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform g NP_001340822.1:p.Ser310Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X1 XM_011545498.4:c.1162T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X1 XP_011543800.1:p.Ser388Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X1 XM_047442039.1:c.1069T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X1 XP_047297995.1:p.Ser357Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X2 XM_011545499.4:c.1051T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X2 XP_011543801.1:p.Ser351Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X3 XM_017029460.2:c.1039T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X3 XP_016884949.1:p.Ser347Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X5 XM_011545500.4:c.1162T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X5 XP_011543802.1:p.Ser388Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X4 XM_047442040.1:c.985T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X4 XP_047297996.1:p.Ser329Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X19 XM_047442041.1:c.985T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X4 XP_047297997.1:p.Ser329Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X5 XM_017029461.2:c.982T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X5 XP_016884950.1:p.Ser328Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X6 XM_047442042.1:c.937T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X6 XP_047297998.1:p.Ser313Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X7 XM_047442043.1:c.907T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X7 XP_047297999.1:p.Ser303Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X8 XM_047442044.1:c.853T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X8 XP_047298000.1:p.Ser285Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X9 XM_017029467.3:c.982T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X9 XP_016884956.1:p.Ser328Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X10 XM_047442045.1:c.853T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X8 XP_047298001.1:p.Ser285Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X11 XM_047442046.1:c.937T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X10 XP_047298002.1:p.Ser313Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X12 XM_047442047.1:c.919T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X11 XP_047298003.1:p.Ser307Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X13 XM_017029468.3:c.907T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X12 XP_016884957.1:p.Ser303Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X14 XM_047442048.1:c.853T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X13 XP_047298004.1:p.Ser285Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X18 XM_047442049.1:c.853T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X15 XP_047298005.1:p.Ser285Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X15 XM_011545502.3:c.367T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X14 XP_011543804.1:p.Ser123Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X16 XM_011545503.4:c.1162T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X15 XP_011543805.1:p.Ser388Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X17 XM_017029469.2:c.247T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X16 XP_016884958.1:p.Ser83Pro S (Ser) > P (Pro) Missense Variant
SH3KBP1 transcript variant X18 XM_047442050.1:c.367T>C S [TCC] > P [CCC] Coding Sequence Variant
SH3 domain-containing kinase-binding protein 1 isoform X17 XP_047298006.1:p.Ser123Pro S (Ser) > P (Pro) Missense Variant
Help

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

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 A= G
GRCh38.p14 chr X NC_000023.11:g.19594976= NC_000023.11:g.19594976A>G
GRCh37.p13 chr X NC_000023.10:g.19613094= NC_000023.10:g.19613094A>G
SH3KBP1 RefSeqGene NG_021367.1:g.297651= NG_021367.1:g.297651T>C
SH3KBP1 transcript variant 1 NM_031892.3:c.1030= NM_031892.3:c.1030T>C
SH3KBP1 transcript variant 1 NM_031892.2:c.1030= NM_031892.2:c.1030T>C
SH3KBP1 transcript variant 2 NM_001024666.3:c.919= NM_001024666.3:c.919T>C
SH3KBP1 transcript variant 2 NM_001024666.2:c.919= NM_001024666.2:c.919T>C
SH3KBP1 transcript variant 5 NM_001353891.2:c.1105= NM_001353891.2:c.1105T>C
SH3KBP1 transcript variant 5 NM_001353891.1:c.1105= NM_001353891.1:c.1105T>C
SH3KBP1 transcript variant 6 NM_001353892.2:c.1105= NM_001353892.2:c.1105T>C
SH3KBP1 transcript variant 6 NM_001353892.1:c.1105= NM_001353892.1:c.1105T>C
SH3KBP1 transcript variant 4 NM_001353890.2:c.1030= NM_001353890.2:c.1030T>C
SH3KBP1 transcript variant 4 NM_001353890.1:c.1030= NM_001353890.1:c.1030T>C
SH3KBP1 transcript variant 7 NM_001353893.2:c.928= NM_001353893.2:c.928T>C
SH3KBP1 transcript variant 7 NM_001353893.1:c.928= NM_001353893.1:c.928T>C
SH3KBP1 transcript variant 9 NM_001353895.2:c.985= NM_001353895.2:c.985T>C
SH3KBP1 transcript variant 9 NM_001353895.1:c.985= NM_001353895.1:c.985T>C
SH3KBP1 transcript variant 8 NM_001353894.2:c.928= NM_001353894.2:c.928T>C
SH3KBP1 transcript variant 8 NM_001353894.1:c.928= NM_001353894.1:c.928T>C
SH3KBP1 transcript variant 3 NM_001184960.2:c.316= NM_001184960.2:c.316T>C
SH3KBP1 transcript variant 3 NM_001184960.1:c.316= NM_001184960.1:c.316T>C
SH3KBP1 transcript variant 10 NM_001353897.2:c.316= NM_001353897.2:c.316T>C
SH3KBP1 transcript variant 10 NM_001353897.1:c.316= NM_001353897.1:c.316T>C
SH3KBP1 transcript variant X1 XM_011545498.4:c.1162= XM_011545498.4:c.1162T>C
SH3KBP1 transcript variant X5 XM_011545500.4:c.1162= XM_011545500.4:c.1162T>C
SH3KBP1 transcript variant X2 XM_011545499.4:c.1051= XM_011545499.4:c.1051T>C
SH3KBP1 transcript variant X2 XM_011545499.3:c.1051= XM_011545499.3:c.1051T>C
SH3KBP1 transcript variant X4 XM_011545499.2:c.1051= XM_011545499.2:c.1051T>C
SH3KBP1 transcript variant X3 XM_011545499.1:c.1051= XM_011545499.1:c.1051T>C
SH3KBP1 transcript variant X16 XM_011545503.4:c.1162= XM_011545503.4:c.1162T>C
SH3KBP1 transcript variant X11 XM_011545503.3:c.1162= XM_011545503.3:c.1162T>C
SH3KBP1 transcript variant X16 XM_011545503.2:c.1162= XM_011545503.2:c.1162T>C
SH3KBP1 transcript variant X7 XM_011545503.1:c.1162= XM_011545503.1:c.1162T>C
SH3KBP1 transcript variant X15 XM_011545502.3:c.367= XM_011545502.3:c.367T>C
SH3KBP1 transcript variant X10 XM_011545502.2:c.367= XM_011545502.2:c.367T>C
SH3KBP1 transcript variant X6 XM_011545502.1:c.367= XM_011545502.1:c.367T>C
SH3KBP1 transcript variant X9 XM_017029467.3:c.982= XM_017029467.3:c.982T>C
SH3KBP1 transcript variant X8 XM_017029467.2:c.982= XM_017029467.2:c.982T>C
SH3KBP1 transcript variant X13 XM_017029467.1:c.982= XM_017029467.1:c.982T>C
SH3KBP1 transcript variant X13 XM_017029468.3:c.907= XM_017029468.3:c.907T>C
SH3KBP1 transcript variant X9 XM_017029468.2:c.907= XM_017029468.2:c.907T>C
SH3KBP1 transcript variant X14 XM_017029468.1:c.907= XM_017029468.1:c.907T>C
SH3KBP1 transcript variant X3 XM_017029460.2:c.1039= XM_017029460.2:c.1039T>C
SH3KBP1 transcript variant X3 XM_017029460.1:c.1039= XM_017029460.1:c.1039T>C
SH3KBP1 transcript variant X5 XM_017029461.2:c.982= XM_017029461.2:c.982T>C
SH3KBP1 transcript variant X5 XM_017029461.1:c.982= XM_017029461.1:c.982T>C
SH3KBP1 transcript variant X17 XM_017029469.2:c.247= XM_017029469.2:c.247T>C
SH3KBP1 transcript variant X12 XM_017029469.1:c.247= XM_017029469.1:c.247T>C
SH3KBP1 transcript variant X18 XM_047442050.1:c.367= XM_047442050.1:c.367T>C
SH3KBP1 transcript variant 11 NM_001410756.1:c.1162= NM_001410756.1:c.1162T>C
SH3KBP1 transcript variant 12 NM_001410757.1:c.1162= NM_001410757.1:c.1162T>C
SH3KBP1 transcript variant X1 XM_047442039.1:c.1069= XM_047442039.1:c.1069T>C
SH3KBP1 transcript variant X19 XM_047442041.1:c.985= XM_047442041.1:c.985T>C
SH3KBP1 transcript variant X6 XM_047442042.1:c.937= XM_047442042.1:c.937T>C
SH3KBP1 transcript variant X4 XM_047442040.1:c.985= XM_047442040.1:c.985T>C
SH3KBP1 transcript variant X7 XM_047442043.1:c.907= XM_047442043.1:c.907T>C
SH3KBP1 transcript variant X10 XM_047442045.1:c.853= XM_047442045.1:c.853T>C
SH3KBP1 transcript variant X11 XM_047442046.1:c.937= XM_047442046.1:c.937T>C
SH3KBP1 transcript variant X8 XM_047442044.1:c.853= XM_047442044.1:c.853T>C
SH3KBP1 transcript variant X14 XM_047442048.1:c.853= XM_047442048.1:c.853T>C
SH3KBP1 transcript variant X12 XM_047442047.1:c.919= XM_047442047.1:c.919T>C
SH3KBP1 transcript variant X18 XM_047442049.1:c.853= XM_047442049.1:c.853T>C
SH3KBP1 transcript variant 13 NM_001410758.1:c.853= NM_001410758.1:c.853T>C
SH3 domain-containing kinase-binding protein 1 isoform a NP_114098.1:p.Ser344= NP_114098.1:p.Ser344Pro
SH3 domain-containing kinase-binding protein 1 isoform b NP_001019837.1:p.Ser307= NP_001019837.1:p.Ser307Pro
SH3 domain-containing kinase-binding protein 1 isoform e NP_001340820.1:p.Ser369= NP_001340820.1:p.Ser369Pro
SH3 domain-containing kinase-binding protein 1 isoform f NP_001340821.1:p.Ser369= NP_001340821.1:p.Ser369Pro
SH3 domain-containing kinase-binding protein 1 isoform d NP_001340819.1:p.Ser344= NP_001340819.1:p.Ser344Pro
SH3 domain-containing kinase-binding protein 1 isoform g NP_001340822.1:p.Ser310= NP_001340822.1:p.Ser310Pro
SH3 domain-containing kinase-binding protein 1 isoform i NP_001340824.1:p.Ser329= NP_001340824.1:p.Ser329Pro
SH3 domain-containing kinase-binding protein 1 isoform h NP_001340823.1:p.Ser310= NP_001340823.1:p.Ser310Pro
SH3 domain-containing kinase-binding protein 1 isoform c NP_001171889.1:p.Ser106= NP_001171889.1:p.Ser106Pro
SH3 domain-containing kinase-binding protein 1 isoform j NP_001340826.1:p.Ser106= NP_001340826.1:p.Ser106Pro
SH3 domain-containing kinase-binding protein 1 isoform X1 XP_011543800.1:p.Ser388= XP_011543800.1:p.Ser388Pro
SH3 domain-containing kinase-binding protein 1 isoform X5 XP_011543802.1:p.Ser388= XP_011543802.1:p.Ser388Pro
SH3 domain-containing kinase-binding protein 1 isoform X2 XP_011543801.1:p.Ser351= XP_011543801.1:p.Ser351Pro
SH3 domain-containing kinase-binding protein 1 isoform X15 XP_011543805.1:p.Ser388= XP_011543805.1:p.Ser388Pro
SH3 domain-containing kinase-binding protein 1 isoform X14 XP_011543804.1:p.Ser123= XP_011543804.1:p.Ser123Pro
SH3 domain-containing kinase-binding protein 1 isoform X9 XP_016884956.1:p.Ser328= XP_016884956.1:p.Ser328Pro
SH3 domain-containing kinase-binding protein 1 isoform X12 XP_016884957.1:p.Ser303= XP_016884957.1:p.Ser303Pro
SH3 domain-containing kinase-binding protein 1 isoform X3 XP_016884949.1:p.Ser347= XP_016884949.1:p.Ser347Pro
SH3 domain-containing kinase-binding protein 1 isoform X5 XP_016884950.1:p.Ser328= XP_016884950.1:p.Ser328Pro
SH3 domain-containing kinase-binding protein 1 isoform X16 XP_016884958.1:p.Ser83= XP_016884958.1:p.Ser83Pro
SH3 domain-containing kinase-binding protein 1 isoform X17 XP_047298006.1:p.Ser123= XP_047298006.1:p.Ser123Pro
SH3 domain-containing kinase-binding protein 1 isoform X1 XP_047297995.1:p.Ser357= XP_047297995.1:p.Ser357Pro
SH3 domain-containing kinase-binding protein 1 isoform X4 XP_047297997.1:p.Ser329= XP_047297997.1:p.Ser329Pro
SH3 domain-containing kinase-binding protein 1 isoform X6 XP_047297998.1:p.Ser313= XP_047297998.1:p.Ser313Pro
SH3 domain-containing kinase-binding protein 1 isoform X4 XP_047297996.1:p.Ser329= XP_047297996.1:p.Ser329Pro
SH3 domain-containing kinase-binding protein 1 isoform X7 XP_047297999.1:p.Ser303= XP_047297999.1:p.Ser303Pro
SH3 domain-containing kinase-binding protein 1 isoform X8 XP_047298001.1:p.Ser285= XP_047298001.1:p.Ser285Pro
SH3 domain-containing kinase-binding protein 1 isoform X10 XP_047298002.1:p.Ser313= XP_047298002.1:p.Ser313Pro
SH3 domain-containing kinase-binding protein 1 isoform X8 XP_047298000.1:p.Ser285= XP_047298000.1:p.Ser285Pro
SH3 domain-containing kinase-binding protein 1 isoform X13 XP_047298004.1:p.Ser285= XP_047298004.1:p.Ser285Pro
SH3 domain-containing kinase-binding protein 1 isoform X11 XP_047298003.1:p.Ser307= XP_047298003.1:p.Ser307Pro
SH3 domain-containing kinase-binding protein 1 isoform X15 XP_047298005.1:p.Ser285= XP_047298005.1:p.Ser285Pro
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2745329295 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000023.10 - 19613094 Jul 13, 2019 (153)
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
14665687, ss2745329295 NC_000023.10:19613093:A:G NC_000023.11:19594975:A:G (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 rs1439180647

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