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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.

rs1482089021

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:70343736 (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=0.000004 (1/251472, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPFIA1 : 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 251472 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 135402 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 49010 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34586 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16254 A=0.99994 G=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6140 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 11 NC_000011.10:g.70343736A>G
GRCh37.p13 chr 11 NC_000011.9:g.70189842A>G
GRCh38.p14 chr 11 fix patch HG2115_PATCH NW_021160005.1:g.99557A>G
Gene: PPFIA1, PTPRF interacting protein alpha 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPFIA1 transcript variant 1 NM_177423.3:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform a NP_803172.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant 4 NM_001378006.1:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform c NP_001364935.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant 2 NM_003626.5:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform b NP_003617.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant 3 NR_045286.3:n.1981A>G N/A Non Coding Transcript Variant
PPFIA1 transcript variant X1 XM_006718716.4:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X1 XP_006718779.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X2 XM_011545306.4:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X1 XP_011543608.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X3 XM_011545307.4:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X2 XP_011543609.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X4 XM_011545308.4:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X3 XP_011543610.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X5 XM_011545309.3:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X4 XP_011543611.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X6 XM_047427763.1:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X5 XP_047283719.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X7 XM_011545310.4:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X6 XP_011543612.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X8 XM_047427764.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X6 XP_047283720.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X9 XM_011545311.4:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X7 XP_011543613.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X10 XM_011545312.3:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X8 XP_011543614.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X11 XM_047427765.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X9 XP_047283721.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X12 XM_017018448.2:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X10 XP_016873937.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X13 XM_011545314.4:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X11 XP_011543616.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X14 XM_047427766.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X12 XP_047283722.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X15 XM_011545315.3:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X13 XP_011543617.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X16 XM_047427767.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X14 XP_047283723.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X17 XM_047427768.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X15 XP_047283724.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X18 XM_011545316.3:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X16 XP_011543618.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X19 XM_047427769.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X17 XP_047283725.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X20 XM_047427770.1:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X18 XP_047283726.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X21 XM_011545317.3:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X19 XP_011543619.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X22 XM_047427771.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X20 XP_047283727.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X23 XM_047427772.1:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X21 XP_047283728.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X24 XM_047427773.1:c.1850A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X22 XP_047283729.1:p.Gln617Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X25 XM_017018449.2:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X23 XP_016873938.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X26 XM_047427774.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X24 XP_047283730.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X27 XM_047427775.1:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X25 XP_047283731.1:p.Gln592Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X28 XM_047427776.1:c.158A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X26 XP_047283732.1:p.Gln53Arg Q (Gln) > R (Arg) Missense Variant
PPFIA1 transcript variant X29 XM_011545319.2:c.1775A>G Q [CAA] > R [CGA] Coding Sequence Variant
liprin-alpha-1 isoform X27 XP_011543621.1:p.Gln592Arg Q (Gln) > R (Arg) 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 11 NC_000011.10:g.70343736= NC_000011.10:g.70343736A>G
GRCh37.p13 chr 11 NC_000011.9:g.70189842= NC_000011.9:g.70189842A>G
GRCh38.p14 chr 11 fix patch HG2115_PATCH NW_021160005.1:g.99557= NW_021160005.1:g.99557A>G
PPFIA1 transcript variant 2 NM_003626.5:c.1775= NM_003626.5:c.1775A>G
PPFIA1 transcript variant 2 NM_003626.4:c.1775= NM_003626.4:c.1775A>G
PPFIA1 transcript variant 2 NM_003626.3:c.1775= NM_003626.3:c.1775A>G
PPFIA1 transcript variant X1 XM_006718716.4:c.1850= XM_006718716.4:c.1850A>G
PPFIA1 transcript variant X1 XM_006718716.3:c.1850= XM_006718716.3:c.1850A>G
PPFIA1 transcript variant X13 XM_006718716.2:c.1850= XM_006718716.2:c.1850A>G
PPFIA1 transcript variant X2 XM_006718716.1:c.1850= XM_006718716.1:c.1850A>G
PPFIA1 transcript variant X3 XM_011545307.4:c.1850= XM_011545307.4:c.1850A>G
PPFIA1 transcript variant X3 XM_011545307.3:c.1850= XM_011545307.3:c.1850A>G
PPFIA1 transcript variant X3 XM_011545307.2:c.1850= XM_011545307.2:c.1850A>G
PPFIA1 transcript variant X2 XM_011545307.1:c.1850= XM_011545307.1:c.1850A>G
PPFIA1 transcript variant X4 XM_011545308.4:c.1850= XM_011545308.4:c.1850A>G
PPFIA1 transcript variant X4 XM_011545308.3:c.1850= XM_011545308.3:c.1850A>G
PPFIA1 transcript variant X4 XM_011545308.2:c.1850= XM_011545308.2:c.1850A>G
PPFIA1 transcript variant X3 XM_011545308.1:c.1850= XM_011545308.1:c.1850A>G
PPFIA1 transcript variant X7 XM_011545310.4:c.1775= XM_011545310.4:c.1775A>G
PPFIA1 transcript variant X6 XM_011545310.3:c.1775= XM_011545310.3:c.1775A>G
PPFIA1 transcript variant X6 XM_011545310.2:c.1775= XM_011545310.2:c.1775A>G
PPFIA1 transcript variant X5 XM_011545310.1:c.1775= XM_011545310.1:c.1775A>G
PPFIA1 transcript variant X9 XM_011545311.4:c.1850= XM_011545311.4:c.1850A>G
PPFIA1 transcript variant X7 XM_011545311.3:c.1850= XM_011545311.3:c.1850A>G
PPFIA1 transcript variant X7 XM_011545311.2:c.1850= XM_011545311.2:c.1850A>G
PPFIA1 transcript variant X6 XM_011545311.1:c.1850= XM_011545311.1:c.1850A>G
PPFIA1 transcript variant X2 XM_011545306.4:c.1850= XM_011545306.4:c.1850A>G
PPFIA1 transcript variant X2 XM_011545306.3:c.1850= XM_011545306.3:c.1850A>G
PPFIA1 transcript variant X2 XM_011545306.2:c.1850= XM_011545306.2:c.1850A>G
PPFIA1 transcript variant X1 XM_011545306.1:c.1850= XM_011545306.1:c.1850A>G
PPFIA1 transcript variant X13 XM_011545314.4:c.1850= XM_011545314.4:c.1850A>G
PPFIA1 transcript variant X11 XM_011545314.3:c.1850= XM_011545314.3:c.1850A>G
PPFIA1 transcript variant X11 XM_011545314.2:c.1850= XM_011545314.2:c.1850A>G
PPFIA1 transcript variant X9 XM_011545314.1:c.1850= XM_011545314.1:c.1850A>G
PPFIA1 transcript variant 1 NM_177423.3:c.1775= NM_177423.3:c.1775A>G
PPFIA1 transcript variant 1 NM_177423.2:c.1775= NM_177423.2:c.1775A>G
PPFIA1 transcript variant X5 XM_011545309.3:c.1850= XM_011545309.3:c.1850A>G
PPFIA1 transcript variant X5 XM_011545309.2:c.1850= XM_011545309.2:c.1850A>G
PPFIA1 transcript variant X4 XM_011545309.1:c.1850= XM_011545309.1:c.1850A>G
PPFIA1 transcript variant X10 XM_011545312.3:c.1850= XM_011545312.3:c.1850A>G
PPFIA1 transcript variant X8 XM_011545312.2:c.1850= XM_011545312.2:c.1850A>G
PPFIA1 transcript variant X7 XM_011545312.1:c.1850= XM_011545312.1:c.1850A>G
PPFIA1 transcript variant X15 XM_011545315.3:c.1775= XM_011545315.3:c.1775A>G
PPFIA1 transcript variant X12 XM_011545315.2:c.1775= XM_011545315.2:c.1775A>G
PPFIA1 transcript variant X10 XM_011545315.1:c.1775= XM_011545315.1:c.1775A>G
PPFIA1 transcript variant X18 XM_011545316.3:c.1850= XM_011545316.3:c.1850A>G
PPFIA1 transcript variant X13 XM_011545316.2:c.1850= XM_011545316.2:c.1850A>G
PPFIA1 transcript variant X11 XM_011545316.1:c.1850= XM_011545316.1:c.1850A>G
PPFIA1 transcript variant X21 XM_011545317.3:c.1850= XM_011545317.3:c.1850A>G
PPFIA1 transcript variant X14 XM_011545317.2:c.1850= XM_011545317.2:c.1850A>G
PPFIA1 transcript variant X12 XM_011545317.1:c.1850= XM_011545317.1:c.1850A>G
PPFIA1 transcript variant 3 NR_045286.3:n.1981= NR_045286.3:n.1981A>G
PPFIA1 transcript variant 3 NR_045286.2:n.1981= NR_045286.2:n.1981A>G
PPFIA1 transcript variant 3 NR_045286.1:n.1971= NR_045286.1:n.1971A>G
PPFIA1 transcript variant X12 XM_017018448.2:c.1850= XM_017018448.2:c.1850A>G
PPFIA1 transcript variant X10 XM_017018448.1:c.1850= XM_017018448.1:c.1850A>G
PPFIA1 transcript variant X29 XM_011545319.2:c.1775= XM_011545319.2:c.1775A>G
PPFIA1 transcript variant X18 XM_011545319.1:c.1775= XM_011545319.1:c.1775A>G
PPFIA1 transcript variant X25 XM_017018449.2:c.1775= XM_017018449.2:c.1775A>G
PPFIA1 transcript variant X15 XM_017018449.1:c.1775= XM_017018449.1:c.1775A>G
PPFIA1 transcript variant 4 NM_001378006.1:c.1850= NM_001378006.1:c.1850A>G
PPFIA1 transcript variant X8 XM_047427764.1:c.1775= XM_047427764.1:c.1775A>G
PPFIA1 transcript variant X14 XM_047427766.1:c.1775= XM_047427766.1:c.1775A>G
PPFIA1 transcript variant X16 XM_047427767.1:c.1775= XM_047427767.1:c.1775A>G
PPFIA1 transcript variant X17 XM_047427768.1:c.1775= XM_047427768.1:c.1775A>G
PPFIA1 transcript variant X19 XM_047427769.1:c.1775= XM_047427769.1:c.1775A>G
PPFIA1 transcript variant X20 XM_047427770.1:c.1850= XM_047427770.1:c.1850A>G
PPFIA1 transcript variant X22 XM_047427771.1:c.1775= XM_047427771.1:c.1775A>G
PPFIA1 transcript variant X23 XM_047427772.1:c.1850= XM_047427772.1:c.1850A>G
PPFIA1 transcript variant X24 XM_047427773.1:c.1850= XM_047427773.1:c.1850A>G
PPFIA1 transcript variant X26 XM_047427774.1:c.1775= XM_047427774.1:c.1775A>G
PPFIA1 transcript variant X27 XM_047427775.1:c.1775= XM_047427775.1:c.1775A>G
PPFIA1 transcript variant X6 XM_047427763.1:c.1850= XM_047427763.1:c.1850A>G
PPFIA1 transcript variant X28 XM_047427776.1:c.158= XM_047427776.1:c.158A>G
PPFIA1 transcript variant X11 XM_047427765.1:c.1775= XM_047427765.1:c.1775A>G
liprin-alpha-1 isoform b NP_003617.1:p.Gln592= NP_003617.1:p.Gln592Arg
liprin-alpha-1 isoform X1 XP_006718779.1:p.Gln617= XP_006718779.1:p.Gln617Arg
liprin-alpha-1 isoform X2 XP_011543609.1:p.Gln617= XP_011543609.1:p.Gln617Arg
liprin-alpha-1 isoform X3 XP_011543610.1:p.Gln617= XP_011543610.1:p.Gln617Arg
liprin-alpha-1 isoform X6 XP_011543612.1:p.Gln592= XP_011543612.1:p.Gln592Arg
liprin-alpha-1 isoform X7 XP_011543613.1:p.Gln617= XP_011543613.1:p.Gln617Arg
liprin-alpha-1 isoform X1 XP_011543608.1:p.Gln617= XP_011543608.1:p.Gln617Arg
liprin-alpha-1 isoform X11 XP_011543616.1:p.Gln617= XP_011543616.1:p.Gln617Arg
liprin-alpha-1 isoform a NP_803172.1:p.Gln592= NP_803172.1:p.Gln592Arg
liprin-alpha-1 isoform X4 XP_011543611.1:p.Gln617= XP_011543611.1:p.Gln617Arg
liprin-alpha-1 isoform X8 XP_011543614.1:p.Gln617= XP_011543614.1:p.Gln617Arg
liprin-alpha-1 isoform X13 XP_011543617.1:p.Gln592= XP_011543617.1:p.Gln592Arg
liprin-alpha-1 isoform X16 XP_011543618.1:p.Gln617= XP_011543618.1:p.Gln617Arg
liprin-alpha-1 isoform X19 XP_011543619.1:p.Gln617= XP_011543619.1:p.Gln617Arg
liprin-alpha-1 isoform X10 XP_016873937.1:p.Gln617= XP_016873937.1:p.Gln617Arg
liprin-alpha-1 isoform X27 XP_011543621.1:p.Gln592= XP_011543621.1:p.Gln592Arg
liprin-alpha-1 isoform X23 XP_016873938.1:p.Gln592= XP_016873938.1:p.Gln592Arg
liprin-alpha-1 isoform c NP_001364935.1:p.Gln617= NP_001364935.1:p.Gln617Arg
liprin-alpha-1 isoform X6 XP_047283720.1:p.Gln592= XP_047283720.1:p.Gln592Arg
liprin-alpha-1 isoform X12 XP_047283722.1:p.Gln592= XP_047283722.1:p.Gln592Arg
liprin-alpha-1 isoform X14 XP_047283723.1:p.Gln592= XP_047283723.1:p.Gln592Arg
liprin-alpha-1 isoform X15 XP_047283724.1:p.Gln592= XP_047283724.1:p.Gln592Arg
liprin-alpha-1 isoform X17 XP_047283725.1:p.Gln592= XP_047283725.1:p.Gln592Arg
liprin-alpha-1 isoform X18 XP_047283726.1:p.Gln617= XP_047283726.1:p.Gln617Arg
liprin-alpha-1 isoform X20 XP_047283727.1:p.Gln592= XP_047283727.1:p.Gln592Arg
liprin-alpha-1 isoform X21 XP_047283728.1:p.Gln617= XP_047283728.1:p.Gln617Arg
liprin-alpha-1 isoform X22 XP_047283729.1:p.Gln617= XP_047283729.1:p.Gln617Arg
liprin-alpha-1 isoform X24 XP_047283730.1:p.Gln592= XP_047283730.1:p.Gln592Arg
liprin-alpha-1 isoform X25 XP_047283731.1:p.Gln592= XP_047283731.1:p.Gln592Arg
liprin-alpha-1 isoform X5 XP_047283719.1:p.Gln617= XP_047283719.1:p.Gln617Arg
liprin-alpha-1 isoform X26 XP_047283732.1:p.Gln53= XP_047283732.1:p.Gln53Arg
liprin-alpha-1 isoform X9 XP_047283721.1:p.Gln592= XP_047283721.1:p.Gln592Arg
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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 ss2739210173 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000011.9 - 70189842 Jul 13, 2019 (153)
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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
8426152, ss2739210173 NC_000011.9:70189841:A:G NC_000011.10:70343735:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1482089021

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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.
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