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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.

rs11340280

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:116694628-116694644 (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
del(T)8 / delTTT / delTT / delT / …

del(T)8 / delTTT / delTT / delT / dupT / dupTT / dup(T)5

Variation Type
Indel Insertion and Deletion
Frequency
delT=0.3142 (2073/6598, ALFA)
(T)17=0.3650 (1828/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ASTN2 : Intron Variant
TRIM32 : Intron 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 6598 TTTTTTTTTTTTTTTTT=0.6851 TTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.3142, TTTTTTTTTTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTT=0.0000 0.534001 0.162417 0.303582 32
European Sub 6044 TTTTTTTTTTTTTTTTT=0.6565 TTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.3427, TTTTTTTTTTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTT=0.0000 0.491879 0.177328 0.330792 32
African Sub 366 TTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 26 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 340 TTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 6 TTTTTTTTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 6 TTTTTTTTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTT=0 TTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 12 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 72 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 10 TTTTTTTTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Sub 88 TTTTTTTTTTTTTTTTT=0.98 TTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.02, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 0.954545 0.0 0.045455 0


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
Allele Frequency Aggregator Total Global 6598 (T)17=0.6851 del(T)8=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.3142, dupT=0.0003, dupTT=0.0000, dup(T)5=0.0005
Allele Frequency Aggregator European Sub 6044 (T)17=0.6565 del(T)8=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.3427, dupT=0.0003, dupTT=0.0000, dup(T)5=0.0005
Allele Frequency Aggregator African Sub 366 (T)17=1.000 del(T)8=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)5=0.000
Allele Frequency Aggregator Other Sub 88 (T)17=0.98 del(T)8=0.00, delTTT=0.00, delTT=0.00, delT=0.02, dupT=0.00, dupTT=0.00, dup(T)5=0.00
Allele Frequency Aggregator Latin American 2 Sub 72 (T)17=1.00 del(T)8=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)5=0.00
Allele Frequency Aggregator Latin American 1 Sub 12 (T)17=1.00 del(T)8=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)5=0.00
Allele Frequency Aggregator South Asian Sub 10 (T)17=1.0 del(T)8=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dup(T)5=0.0
Allele Frequency Aggregator Asian Sub 6 (T)17=1.0 del(T)8=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dup(T)5=0.0
1000Genomes Global Study-wide 5008 (T)17=0.3650 delT=0.6350
1000Genomes African Sub 1322 (T)17=0.4213 delT=0.5787
1000Genomes East Asian Sub 1008 (T)17=0.3433 delT=0.6567
1000Genomes Europe Sub 1006 (T)17=0.4533 delT=0.5467
1000Genomes South Asian Sub 978 (T)17=0.257 delT=0.743
1000Genomes American Sub 694 (T)17=0.314 delT=0.686
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 9 NC_000009.12:g.116694637_116694644del
GRCh38.p14 chr 9 NC_000009.12:g.116694642_116694644del
GRCh38.p14 chr 9 NC_000009.12:g.116694643_116694644del
GRCh38.p14 chr 9 NC_000009.12:g.116694644del
GRCh38.p14 chr 9 NC_000009.12:g.116694644dup
GRCh38.p14 chr 9 NC_000009.12:g.116694643_116694644dup
GRCh38.p14 chr 9 NC_000009.12:g.116694640_116694644dup
GRCh37.p13 chr 9 NC_000009.11:g.119456916_119456923del
GRCh37.p13 chr 9 NC_000009.11:g.119456921_119456923del
GRCh37.p13 chr 9 NC_000009.11:g.119456922_119456923del
GRCh37.p13 chr 9 NC_000009.11:g.119456923del
GRCh37.p13 chr 9 NC_000009.11:g.119456923dup
GRCh37.p13 chr 9 NC_000009.11:g.119456922_119456923dup
GRCh37.p13 chr 9 NC_000009.11:g.119456919_119456923dup
ASTN2 RefSeqGene NG_021409.2:g.725423_725430del
ASTN2 RefSeqGene NG_021409.2:g.725428_725430del
ASTN2 RefSeqGene NG_021409.2:g.725429_725430del
ASTN2 RefSeqGene NG_021409.2:g.725430del
ASTN2 RefSeqGene NG_021409.2:g.725430dup
ASTN2 RefSeqGene NG_021409.2:g.725429_725430dup
ASTN2 RefSeqGene NG_021409.2:g.725426_725430dup
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12336_12343del
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12341_12343del
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12342_12343del
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12343del
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12343dup
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12342_12343dup
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12339_12343dup
Gene: TRIM32, tripartite motif containing 32 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIM32 transcript variant 2 NM_001099679.2:c.-78-3028…

NM_001099679.2:c.-78-3028_-78-3021del

N/A Intron Variant
TRIM32 transcript variant 3 NM_001379048.1:c.-142-273…

NM_001379048.1:c.-142-2736_-142-2729del

N/A Intron Variant
TRIM32 transcript variant 4 NM_001379049.1:c.-81-3025…

NM_001379049.1:c.-81-3025_-81-3018del

N/A Intron Variant
TRIM32 transcript variant 5 NM_001379050.1:c.-78-3028…

NM_001379050.1:c.-78-3028_-78-3021del

N/A Intron Variant
TRIM32 transcript variant 1 NM_012210.4:c.-81-3025_-8…

NM_012210.4:c.-81-3025_-81-3018del

N/A Intron Variant
Gene: ASTN2, astrotactin 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ASTN2 transcript variant 7 NM_001365068.1:c.2806+311…

NM_001365068.1:c.2806+31136_2806+31143del

N/A Intron Variant
ASTN2 transcript variant 8 NM_001365069.1:c.2794+311…

NM_001365069.1:c.2794+31136_2794+31143del

N/A Intron Variant
ASTN2 transcript variant 1 NM_014010.5:c.2653+31136_…

NM_014010.5:c.2653+31136_2653+31143del

N/A Intron Variant
ASTN2 transcript variant 5 NM_001184734.1:c. N/A Genic Upstream Transcript Variant
ASTN2 transcript variant 6 NM_001184735.1:c. N/A Genic Upstream Transcript Variant
ASTN2 transcript variant 2 NM_198186.3:c. N/A Genic Upstream Transcript Variant
ASTN2 transcript variant 3 NM_198187.3:c. N/A Genic Upstream Transcript Variant
ASTN2 transcript variant 4 NM_198188.2:c. N/A Genic Upstream 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 (T)17= del(T)8 delTTT delTT delT dupT dupTT dup(T)5
GRCh38.p14 chr 9 NC_000009.12:g.116694628_116694644= NC_000009.12:g.116694637_116694644del NC_000009.12:g.116694642_116694644del NC_000009.12:g.116694643_116694644del NC_000009.12:g.116694644del NC_000009.12:g.116694644dup NC_000009.12:g.116694643_116694644dup NC_000009.12:g.116694640_116694644dup
GRCh37.p13 chr 9 NC_000009.11:g.119456907_119456923= NC_000009.11:g.119456916_119456923del NC_000009.11:g.119456921_119456923del NC_000009.11:g.119456922_119456923del NC_000009.11:g.119456923del NC_000009.11:g.119456923dup NC_000009.11:g.119456922_119456923dup NC_000009.11:g.119456919_119456923dup
ASTN2 RefSeqGene NG_021409.2:g.725414_725430= NG_021409.2:g.725423_725430del NG_021409.2:g.725428_725430del NG_021409.2:g.725429_725430del NG_021409.2:g.725430del NG_021409.2:g.725430dup NG_021409.2:g.725429_725430dup NG_021409.2:g.725426_725430dup
TRIM32 RefSeqGene (LRG_211) NG_011619.1:g.12327_12343= NG_011619.1:g.12336_12343del NG_011619.1:g.12341_12343del NG_011619.1:g.12342_12343del NG_011619.1:g.12343del NG_011619.1:g.12343dup NG_011619.1:g.12342_12343dup NG_011619.1:g.12339_12343dup
TRIM32 transcript variant 2 NM_001099679.1:c.-78-3037= NM_001099679.1:c.-78-3028_-78-3021del NM_001099679.1:c.-78-3023_-78-3021del NM_001099679.1:c.-78-3022_-78-3021del NM_001099679.1:c.-78-3021del NM_001099679.1:c.-78-3021dup NM_001099679.1:c.-78-3022_-78-3021dup NM_001099679.1:c.-78-3025_-78-3021dup
TRIM32 transcript variant 2 NM_001099679.2:c.-78-3037= NM_001099679.2:c.-78-3028_-78-3021del NM_001099679.2:c.-78-3023_-78-3021del NM_001099679.2:c.-78-3022_-78-3021del NM_001099679.2:c.-78-3021del NM_001099679.2:c.-78-3021dup NM_001099679.2:c.-78-3022_-78-3021dup NM_001099679.2:c.-78-3025_-78-3021dup
ASTN2 transcript variant 7 NM_001365068.1:c.2806+31143= NM_001365068.1:c.2806+31136_2806+31143del NM_001365068.1:c.2806+31141_2806+31143del NM_001365068.1:c.2806+31142_2806+31143del NM_001365068.1:c.2806+31143del NM_001365068.1:c.2806+31143dup NM_001365068.1:c.2806+31142_2806+31143dup NM_001365068.1:c.2806+31139_2806+31143dup
ASTN2 transcript variant 8 NM_001365069.1:c.2794+31143= NM_001365069.1:c.2794+31136_2794+31143del NM_001365069.1:c.2794+31141_2794+31143del NM_001365069.1:c.2794+31142_2794+31143del NM_001365069.1:c.2794+31143del NM_001365069.1:c.2794+31143dup NM_001365069.1:c.2794+31142_2794+31143dup NM_001365069.1:c.2794+31139_2794+31143dup
TRIM32 transcript variant 3 NM_001379048.1:c.-142-2745= NM_001379048.1:c.-142-2736_-142-2729del NM_001379048.1:c.-142-2731_-142-2729del NM_001379048.1:c.-142-2730_-142-2729del NM_001379048.1:c.-142-2729del NM_001379048.1:c.-142-2729dup NM_001379048.1:c.-142-2730_-142-2729dup NM_001379048.1:c.-142-2733_-142-2729dup
TRIM32 transcript variant 4 NM_001379049.1:c.-81-3034= NM_001379049.1:c.-81-3025_-81-3018del NM_001379049.1:c.-81-3020_-81-3018del NM_001379049.1:c.-81-3019_-81-3018del NM_001379049.1:c.-81-3018del NM_001379049.1:c.-81-3018dup NM_001379049.1:c.-81-3019_-81-3018dup NM_001379049.1:c.-81-3022_-81-3018dup
TRIM32 transcript variant 5 NM_001379050.1:c.-78-3037= NM_001379050.1:c.-78-3028_-78-3021del NM_001379050.1:c.-78-3023_-78-3021del NM_001379050.1:c.-78-3022_-78-3021del NM_001379050.1:c.-78-3021del NM_001379050.1:c.-78-3021dup NM_001379050.1:c.-78-3022_-78-3021dup NM_001379050.1:c.-78-3025_-78-3021dup
TRIM32 transcript variant 1 NM_012210.3:c.-81-3034= NM_012210.3:c.-81-3025_-81-3018del NM_012210.3:c.-81-3020_-81-3018del NM_012210.3:c.-81-3019_-81-3018del NM_012210.3:c.-81-3018del NM_012210.3:c.-81-3018dup NM_012210.3:c.-81-3019_-81-3018dup NM_012210.3:c.-81-3022_-81-3018dup
TRIM32 transcript variant 1 NM_012210.4:c.-81-3034= NM_012210.4:c.-81-3025_-81-3018del NM_012210.4:c.-81-3020_-81-3018del NM_012210.4:c.-81-3019_-81-3018del NM_012210.4:c.-81-3018del NM_012210.4:c.-81-3018dup NM_012210.4:c.-81-3019_-81-3018dup NM_012210.4:c.-81-3022_-81-3018dup
ASTN2 transcript variant 1 NM_014010.4:c.2653+31143= NM_014010.4:c.2653+31136_2653+31143del NM_014010.4:c.2653+31141_2653+31143del NM_014010.4:c.2653+31142_2653+31143del NM_014010.4:c.2653+31143del NM_014010.4:c.2653+31143dup NM_014010.4:c.2653+31142_2653+31143dup NM_014010.4:c.2653+31139_2653+31143dup
ASTN2 transcript variant 1 NM_014010.5:c.2653+31143= NM_014010.5:c.2653+31136_2653+31143del NM_014010.5:c.2653+31141_2653+31143del NM_014010.5:c.2653+31142_2653+31143del NM_014010.5:c.2653+31143del NM_014010.5:c.2653+31143dup NM_014010.5:c.2653+31142_2653+31143dup NM_014010.5:c.2653+31139_2653+31143dup
TRIM32 transcript variant X1 XM_005251813.1:c.-81-3034= XM_005251813.1:c.-81-3025_-81-3018del XM_005251813.1:c.-81-3020_-81-3018del XM_005251813.1:c.-81-3019_-81-3018del XM_005251813.1:c.-81-3018del XM_005251813.1:c.-81-3018dup XM_005251813.1:c.-81-3019_-81-3018dup XM_005251813.1:c.-81-3022_-81-3018dup
TRIM32 transcript variant X2 XM_005251814.1:c.-81-3034= XM_005251814.1:c.-81-3025_-81-3018del XM_005251814.1:c.-81-3020_-81-3018del XM_005251814.1:c.-81-3019_-81-3018del XM_005251814.1:c.-81-3018del XM_005251814.1:c.-81-3018dup XM_005251814.1:c.-81-3019_-81-3018dup XM_005251814.1:c.-81-3022_-81-3018dup
ASTN2 transcript variant X1 XM_005251844.1:c.2806+31143= XM_005251844.1:c.2806+31136_2806+31143del XM_005251844.1:c.2806+31141_2806+31143del XM_005251844.1:c.2806+31142_2806+31143del XM_005251844.1:c.2806+31143del XM_005251844.1:c.2806+31143dup XM_005251844.1:c.2806+31142_2806+31143dup XM_005251844.1:c.2806+31139_2806+31143dup
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#.

39 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77971340 Sep 08, 2015 (146)
2 SSMP ss663895566 Apr 01, 2015 (144)
3 SSIP ss947246950 Aug 21, 2014 (142)
4 1000GENOMES ss1368703000 Aug 21, 2014 (142)
5 HAMMER_LAB ss1806140671 Sep 08, 2015 (146)
6 SYSTEMSBIOZJU ss2627389950 Nov 08, 2017 (151)
7 SWEGEN ss3005514439 Nov 08, 2017 (151)
8 MCHAISSO ss3064350783 Nov 08, 2017 (151)
9 MCHAISSO ss3065243611 Nov 08, 2017 (151)
10 MCHAISSO ss3066267024 Nov 08, 2017 (151)
11 EVA_DECODE ss3724657435 Jul 13, 2019 (153)
12 EVA_DECODE ss3724657436 Jul 13, 2019 (153)
13 EVA_DECODE ss3724657437 Jul 13, 2019 (153)
14 KHV_HUMAN_GENOMES ss3812797880 Jul 13, 2019 (153)
15 EVA ss3831837133 Apr 26, 2020 (154)
16 EVA ss3839447805 Apr 26, 2020 (154)
17 EVA ss3844912377 Apr 26, 2020 (154)
18 GNOMAD ss4208584950 Apr 26, 2021 (155)
19 GNOMAD ss4208584951 Apr 26, 2021 (155)
20 GNOMAD ss4208584952 Apr 26, 2021 (155)
21 GNOMAD ss4208584953 Apr 26, 2021 (155)
22 GNOMAD ss4208584954 Apr 26, 2021 (155)
23 GNOMAD ss4208584955 Apr 26, 2021 (155)
24 GNOMAD ss4208584956 Apr 26, 2021 (155)
25 TOMMO_GENOMICS ss5195076282 Apr 26, 2021 (155)
26 TOMMO_GENOMICS ss5195076283 Apr 26, 2021 (155)
27 1000G_HIGH_COVERAGE ss5282012139 Oct 16, 2022 (156)
28 1000G_HIGH_COVERAGE ss5282012140 Oct 16, 2022 (156)
29 1000G_HIGH_COVERAGE ss5282012141 Oct 16, 2022 (156)
30 HUGCELL_USP ss5477897430 Oct 16, 2022 (156)
31 HUGCELL_USP ss5477897431 Oct 16, 2022 (156)
32 HUGCELL_USP ss5477897432 Oct 16, 2022 (156)
33 HUGCELL_USP ss5477897433 Oct 16, 2022 (156)
34 TOMMO_GENOMICS ss5739539695 Oct 16, 2022 (156)
35 TOMMO_GENOMICS ss5739539696 Oct 16, 2022 (156)
36 TOMMO_GENOMICS ss5739539697 Oct 16, 2022 (156)
37 EVA ss5829684425 Oct 16, 2022 (156)
38 EVA ss5829684426 Oct 16, 2022 (156)
39 EVA ss5856916843 Oct 16, 2022 (156)
40 1000Genomes NC_000009.11 - 119456907 Oct 12, 2018 (152)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 336240231 (NC_000009.12:116694627::T 498/117640)
Row 336240232 (NC_000009.12:116694627::TT 21/117648)
Row 336240233 (NC_000009.12:116694627::TTTTT 3/117650)...

- Apr 26, 2021 (155)
42 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 336240231 (NC_000009.12:116694627::T 498/117640)
Row 336240232 (NC_000009.12:116694627::TT 21/117648)
Row 336240233 (NC_000009.12:116694627::TTTTT 3/117650)...

- Apr 26, 2021 (155)
43 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 336240231 (NC_000009.12:116694627::T 498/117640)
Row 336240232 (NC_000009.12:116694627::TT 21/117648)
Row 336240233 (NC_000009.12:116694627::TTTTT 3/117650)...

- Apr 26, 2021 (155)
44 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 336240231 (NC_000009.12:116694627::T 498/117640)
Row 336240232 (NC_000009.12:116694627::TT 21/117648)
Row 336240233 (NC_000009.12:116694627::TTTTT 3/117650)...

- Apr 26, 2021 (155)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 336240231 (NC_000009.12:116694627::T 498/117640)
Row 336240232 (NC_000009.12:116694627::TT 21/117648)
Row 336240233 (NC_000009.12:116694627::TTTTT 3/117650)...

- Apr 26, 2021 (155)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 336240231 (NC_000009.12:116694627::T 498/117640)
Row 336240232 (NC_000009.12:116694627::TT 21/117648)
Row 336240233 (NC_000009.12:116694627::TTTTT 3/117650)...

- Apr 26, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 336240231 (NC_000009.12:116694627::T 498/117640)
Row 336240232 (NC_000009.12:116694627::TT 21/117648)
Row 336240233 (NC_000009.12:116694627::TTTTT 3/117650)...

- Apr 26, 2021 (155)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 53045589 (NC_000009.11:119456906:T: 11330/16742)
Row 53045590 (NC_000009.11:119456906::T 4/16742)

- Apr 26, 2021 (155)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 53045589 (NC_000009.11:119456906:T: 11330/16742)
Row 53045590 (NC_000009.11:119456906::T 4/16742)

- Apr 26, 2021 (155)
50 14KJPN

Submission ignored due to conflicting rows:
Row 73376799 (NC_000009.12:116694627:T: 17779/27600)
Row 73376800 (NC_000009.12:116694627:TT: 18/27600)
Row 73376801 (NC_000009.12:116694627::T 6/27600)

- Oct 16, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 73376799 (NC_000009.12:116694627:T: 17779/27600)
Row 73376800 (NC_000009.12:116694627:TT: 18/27600)
Row 73376801 (NC_000009.12:116694627::T 6/27600)

- Oct 16, 2022 (156)
52 14KJPN

Submission ignored due to conflicting rows:
Row 73376799 (NC_000009.12:116694627:T: 17779/27600)
Row 73376800 (NC_000009.12:116694627:TT: 18/27600)
Row 73376801 (NC_000009.12:116694627::T 6/27600)

- Oct 16, 2022 (156)
53 ALFA NC_000009.12 - 116694628 Apr 26, 2021 (155)
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).

Associated ID History Updated (Build)
rs11346982 May 11, 2012 (137)
rs34547322 May 23, 2006 (127)
rs35083407 May 23, 2006 (127)
rs375536293 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4208584956, ss5477897433 NC_000009.12:116694627:TTTTTTTT: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
11988038141 NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss4208584955 NC_000009.12:116694627:TTT: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
11988038141 NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss5829684426 NC_000009.11:119456906:TT: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

ss3724657435, ss4208584954, ss5282012140, ss5477897430, ss5739539696 NC_000009.12:116694627:TT: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
11988038141 NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss77971340 NC_000009.9:116536476:T: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
47575886, ss663895566, ss1368703000, ss1806140671, ss2627389950, ss3005514439, ss3831837133, ss3839447805, ss5195076282, ss5829684425 NC_000009.11:119456906:T: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss947246950 NC_000009.11:119456907:T: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3064350783, ss3065243611, ss3066267024, ss3812797880, ss3844912377, ss4208584953, ss5282012139, ss5477897431, ss5739539695, ss5856916843 NC_000009.12:116694627:T: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
11988038141 NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3724657436 NC_000009.12:116694628:T: NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5195076283 NC_000009.11:119456906::T NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4208584950, ss5282012141, ss5477897432, ss5739539697 NC_000009.12:116694627::T NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
11988038141 NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3724657437 NC_000009.12:116694629::T NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4208584951 NC_000009.12:116694627::TT NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
11988038141 NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4208584952 NC_000009.12:116694627::TTTTT NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
11988038141 NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:116694627:TTTTTTTTTTT…

NC_000009.12:116694627:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(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 rs11340280

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