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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.

rs869283065

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:120898315-120898335 (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(A)14 / del(A)13 / del(A)9 / de…

del(A)14 / del(A)13 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4

Variation Type
Indel Insertion and Deletion
Frequency
del(A)9=0.000004 (1/264690, TOPMED)
del(A)14=0.0000 (0/4846, ALFA)
del(A)13=0.0000 (0/4846, ALFA) (+ 12 more)
del(A)9=0.0000 (0/4846, ALFA)
del(A)8=0.0000 (0/4846, ALFA)
del(A)7=0.0000 (0/4846, ALFA)
del(A)6=0.0000 (0/4846, ALFA)
del(A)5=0.0000 (0/4846, ALFA)
del(A)4=0.0000 (0/4846, ALFA)
delAAA=0.0000 (0/4846, ALFA)
delAA=0.0000 (0/4846, ALFA)
delA=0.0000 (0/4846, ALFA)
dupA=0.0000 (0/4846, ALFA)
dupAA=0.0000 (0/4846, ALFA)
dupAAA=0.0000 (0/4846, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SPPL3 : 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 4846 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 2498 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1928 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 74 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1854 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 44 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 34 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 10 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 56 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 106 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 34 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 180 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 (A)21=0.999996 del(A)9=0.000004
Allele Frequency Aggregator Total Global 4846 (A)21=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator European Sub 2498 (A)21=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator African Sub 1928 (A)21=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator Other Sub 180 (A)21=1.000 del(A)14=0.000, del(A)13=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 106 (A)21=1.000 del(A)14=0.000, del(A)13=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 56 (A)21=1.00 del(A)14=0.00, del(A)13=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 44 (A)21=1.00 del(A)14=0.00, del(A)13=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 34 (A)21=1.00 del(A)14=0.00, del(A)13=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
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 12 NC_000012.12:g.120898322_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898323_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898327_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898328_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898329_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898330_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898331_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898332_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898333_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898334_120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898335del
GRCh38.p14 chr 12 NC_000012.12:g.120898335dup
GRCh38.p14 chr 12 NC_000012.12:g.120898334_120898335dup
GRCh38.p14 chr 12 NC_000012.12:g.120898333_120898335dup
GRCh38.p14 chr 12 NC_000012.12:g.120898332_120898335dup
GRCh37.p13 chr 12 NC_000012.11:g.121336125_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336126_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336130_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336131_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336132_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336133_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336134_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336135_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336136_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336137_121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336138del
GRCh37.p13 chr 12 NC_000012.11:g.121336138dup
GRCh37.p13 chr 12 NC_000012.11:g.121336137_121336138dup
GRCh37.p13 chr 12 NC_000012.11:g.121336136_121336138dup
GRCh37.p13 chr 12 NC_000012.11:g.121336135_121336138dup
Gene: SPPL3, signal peptide peptidase like 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SPPL3 transcript NM_139015.5:c.23+5517_23+…

NM_139015.5:c.23+5517_23+5530del

N/A Intron Variant
SPPL3 transcript variant X1 XM_011537925.3:c.-31794_-…

XM_011537925.3:c.-31794_-31774=

N/A 5 Prime UTR 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)21= del(A)14 del(A)13 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4
GRCh38.p14 chr 12 NC_000012.12:g.120898315_120898335= NC_000012.12:g.120898322_120898335del NC_000012.12:g.120898323_120898335del NC_000012.12:g.120898327_120898335del NC_000012.12:g.120898328_120898335del NC_000012.12:g.120898329_120898335del NC_000012.12:g.120898330_120898335del NC_000012.12:g.120898331_120898335del NC_000012.12:g.120898332_120898335del NC_000012.12:g.120898333_120898335del NC_000012.12:g.120898334_120898335del NC_000012.12:g.120898335del NC_000012.12:g.120898335dup NC_000012.12:g.120898334_120898335dup NC_000012.12:g.120898333_120898335dup NC_000012.12:g.120898332_120898335dup
GRCh37.p13 chr 12 NC_000012.11:g.121336118_121336138= NC_000012.11:g.121336125_121336138del NC_000012.11:g.121336126_121336138del NC_000012.11:g.121336130_121336138del NC_000012.11:g.121336131_121336138del NC_000012.11:g.121336132_121336138del NC_000012.11:g.121336133_121336138del NC_000012.11:g.121336134_121336138del NC_000012.11:g.121336135_121336138del NC_000012.11:g.121336136_121336138del NC_000012.11:g.121336137_121336138del NC_000012.11:g.121336138del NC_000012.11:g.121336138dup NC_000012.11:g.121336137_121336138dup NC_000012.11:g.121336136_121336138dup NC_000012.11:g.121336135_121336138dup
SPPL3 transcript variant X1 XM_011537925.3:c.-31794_-31774= XM_011537925.3:c.-31787_-31774del XM_011537925.3:c.-31786_-31774del XM_011537925.3:c.-31782_-31774del XM_011537925.3:c.-31781_-31774del XM_011537925.3:c.-31780_-31774del XM_011537925.3:c.-31779_-31774del XM_011537925.3:c.-31778_-31774del XM_011537925.3:c.-31777_-31774del XM_011537925.3:c.-31776_-31774del XM_011537925.3:c.-31775_-31774del XM_011537925.3:c.-31774del XM_011537925.3:c.-31774dup XM_011537925.3:c.-31775_-31774dup XM_011537925.3:c.-31776_-31774dup XM_011537925.3:c.-31777_-31774dup
SPPL3 transcript NM_139015.4:c.23+5530= NM_139015.4:c.23+5517_23+5530del NM_139015.4:c.23+5518_23+5530del NM_139015.4:c.23+5522_23+5530del NM_139015.4:c.23+5523_23+5530del NM_139015.4:c.23+5524_23+5530del NM_139015.4:c.23+5525_23+5530del NM_139015.4:c.23+5526_23+5530del NM_139015.4:c.23+5527_23+5530del NM_139015.4:c.23+5528_23+5530del NM_139015.4:c.23+5529_23+5530del NM_139015.4:c.23+5530del NM_139015.4:c.23+5530dup NM_139015.4:c.23+5529_23+5530dup NM_139015.4:c.23+5528_23+5530dup NM_139015.4:c.23+5527_23+5530dup
SPPL3 transcript NM_139015.5:c.23+5530= NM_139015.5:c.23+5517_23+5530del NM_139015.5:c.23+5518_23+5530del NM_139015.5:c.23+5522_23+5530del NM_139015.5:c.23+5523_23+5530del NM_139015.5:c.23+5524_23+5530del NM_139015.5:c.23+5525_23+5530del NM_139015.5:c.23+5526_23+5530del NM_139015.5:c.23+5527_23+5530del NM_139015.5:c.23+5528_23+5530del NM_139015.5:c.23+5529_23+5530del NM_139015.5:c.23+5530del NM_139015.5:c.23+5530dup NM_139015.5:c.23+5529_23+5530dup NM_139015.5:c.23+5528_23+5530dup NM_139015.5:c.23+5527_23+5530dup
SPPL3 transcript variant X1 XM_005253841.1:c.-89+3563= XM_005253841.1:c.-89+3550_-89+3563del XM_005253841.1:c.-89+3551_-89+3563del XM_005253841.1:c.-89+3555_-89+3563del XM_005253841.1:c.-89+3556_-89+3563del XM_005253841.1:c.-89+3557_-89+3563del XM_005253841.1:c.-89+3558_-89+3563del XM_005253841.1:c.-89+3559_-89+3563del XM_005253841.1:c.-89+3560_-89+3563del XM_005253841.1:c.-89+3561_-89+3563del XM_005253841.1:c.-89+3562_-89+3563del XM_005253841.1:c.-89+3563del XM_005253841.1:c.-89+3563dup XM_005253841.1:c.-89+3562_-89+3563dup XM_005253841.1:c.-89+3561_-89+3563dup XM_005253841.1:c.-89+3560_-89+3563dup
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#.

33 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss4281596 Mar 15, 2016 (147)
2 HGSV ss79990654 Oct 12, 2018 (152)
3 PACBIO ss3792434149 Jul 13, 2019 (153)
4 PACBIO ss3797317320 Jul 13, 2019 (153)
5 KOGIC ss3972881871 Apr 27, 2020 (154)
6 KOGIC ss3972881872 Apr 27, 2020 (154)
7 KOGIC ss3972881873 Apr 27, 2020 (154)
8 KOGIC ss3972881874 Apr 27, 2020 (154)
9 KOGIC ss3972881875 Apr 27, 2020 (154)
10 GNOMAD ss4260239351 Apr 26, 2021 (155)
11 GNOMAD ss4260239352 Apr 26, 2021 (155)
12 GNOMAD ss4260239353 Apr 26, 2021 (155)
13 GNOMAD ss4260239354 Apr 26, 2021 (155)
14 GNOMAD ss4260239357 Apr 26, 2021 (155)
15 GNOMAD ss4260239358 Apr 26, 2021 (155)
16 GNOMAD ss4260239359 Apr 26, 2021 (155)
17 GNOMAD ss4260239360 Apr 26, 2021 (155)
18 GNOMAD ss4260239361 Apr 26, 2021 (155)
19 GNOMAD ss4260239362 Apr 26, 2021 (155)
20 GNOMAD ss4260239363 Apr 26, 2021 (155)
21 TOPMED ss4935177412 Apr 26, 2021 (155)
22 TOMMO_GENOMICS ss5208492603 Apr 26, 2021 (155)
23 TOMMO_GENOMICS ss5208492604 Apr 26, 2021 (155)
24 TOMMO_GENOMICS ss5208492605 Apr 26, 2021 (155)
25 TOMMO_GENOMICS ss5208492606 Apr 26, 2021 (155)
26 TOMMO_GENOMICS ss5208492607 Apr 26, 2021 (155)
27 1000G_HIGH_COVERAGE ss5292482304 Oct 16, 2022 (156)
28 HUGCELL_USP ss5487062445 Oct 16, 2022 (156)
29 HUGCELL_USP ss5487062446 Oct 16, 2022 (156)
30 TOMMO_GENOMICS ss5758915854 Oct 16, 2022 (156)
31 TOMMO_GENOMICS ss5758915856 Oct 16, 2022 (156)
32 TOMMO_GENOMICS ss5758915857 Oct 16, 2022 (156)
33 TOMMO_GENOMICS ss5758915858 Oct 16, 2022 (156)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

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

Submission ignored due to conflicting rows:
Row 421373009 (NC_000012.12:120898314::A 426/60288)
Row 421373010 (NC_000012.12:120898314::AA 310/60168)
Row 421373011 (NC_000012.12:120898314::AAA 232/60282)...

- Apr 26, 2021 (155)
46 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29259872 (NC_000012.12:120898315:AAA: 356/1808)
Row 29259873 (NC_000012.12:120898316:AA: 396/1808)
Row 29259874 (NC_000012.12:120898317:A: 70/1808)...

- Apr 27, 2020 (154)
47 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29259872 (NC_000012.12:120898315:AAA: 356/1808)
Row 29259873 (NC_000012.12:120898316:AA: 396/1808)
Row 29259874 (NC_000012.12:120898317:A: 70/1808)...

- Apr 27, 2020 (154)
48 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29259872 (NC_000012.12:120898315:AAA: 356/1808)
Row 29259873 (NC_000012.12:120898316:AA: 396/1808)
Row 29259874 (NC_000012.12:120898317:A: 70/1808)...

- Apr 27, 2020 (154)
49 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29259872 (NC_000012.12:120898315:AAA: 356/1808)
Row 29259873 (NC_000012.12:120898316:AA: 396/1808)
Row 29259874 (NC_000012.12:120898317:A: 70/1808)...

- Apr 27, 2020 (154)
50 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29259872 (NC_000012.12:120898315:AAA: 356/1808)
Row 29259873 (NC_000012.12:120898316:AA: 396/1808)
Row 29259874 (NC_000012.12:120898317:A: 70/1808)...

- Apr 27, 2020 (154)
51 8.3KJPN

Submission ignored due to conflicting rows:
Row 66461910 (NC_000012.11:121336117:AAA: 2938/16624)
Row 66461911 (NC_000012.11:121336117:AA: 4437/16624)
Row 66461912 (NC_000012.11:121336117::A 432/16624)...

- Apr 26, 2021 (155)
52 8.3KJPN

Submission ignored due to conflicting rows:
Row 66461910 (NC_000012.11:121336117:AAA: 2938/16624)
Row 66461911 (NC_000012.11:121336117:AA: 4437/16624)
Row 66461912 (NC_000012.11:121336117::A 432/16624)...

- Apr 26, 2021 (155)
53 8.3KJPN

Submission ignored due to conflicting rows:
Row 66461910 (NC_000012.11:121336117:AAA: 2938/16624)
Row 66461911 (NC_000012.11:121336117:AA: 4437/16624)
Row 66461912 (NC_000012.11:121336117::A 432/16624)...

- Apr 26, 2021 (155)
54 8.3KJPN

Submission ignored due to conflicting rows:
Row 66461910 (NC_000012.11:121336117:AAA: 2938/16624)
Row 66461911 (NC_000012.11:121336117:AA: 4437/16624)
Row 66461912 (NC_000012.11:121336117::A 432/16624)...

- Apr 26, 2021 (155)
55 8.3KJPN

Submission ignored due to conflicting rows:
Row 66461910 (NC_000012.11:121336117:AAA: 2938/16624)
Row 66461911 (NC_000012.11:121336117:AA: 4437/16624)
Row 66461912 (NC_000012.11:121336117::A 432/16624)...

- Apr 26, 2021 (155)
56 14KJPN

Submission ignored due to conflicting rows:
Row 92752958 (NC_000012.12:120898314:AAA: 5064/28214)
Row 92752960 (NC_000012.12:120898314::AA 224/28214)
Row 92752961 (NC_000012.12:120898314:AA: 8234/28214)...

- Oct 16, 2022 (156)
57 14KJPN

Submission ignored due to conflicting rows:
Row 92752958 (NC_000012.12:120898314:AAA: 5064/28214)
Row 92752960 (NC_000012.12:120898314::AA 224/28214)
Row 92752961 (NC_000012.12:120898314:AA: 8234/28214)...

- Oct 16, 2022 (156)
58 14KJPN

Submission ignored due to conflicting rows:
Row 92752958 (NC_000012.12:120898314:AAA: 5064/28214)
Row 92752960 (NC_000012.12:120898314::AA 224/28214)
Row 92752961 (NC_000012.12:120898314:AA: 8234/28214)...

- Oct 16, 2022 (156)
59 14KJPN

Submission ignored due to conflicting rows:
Row 92752958 (NC_000012.12:120898314:AAA: 5064/28214)
Row 92752960 (NC_000012.12:120898314::AA 224/28214)
Row 92752961 (NC_000012.12:120898314:AA: 8234/28214)...

- Oct 16, 2022 (156)
60 TopMed NC_000012.12 - 120898315 Apr 26, 2021 (155)
61 ALFA NC_000012.12 - 120898315 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4260239363, ss5487062446 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAA:

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
ss4260239362 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAA:

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
150723069, ss4935177412 NC_000012.12:120898314:AAAAAAAAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4260239361 NC_000012.12:120898314:AAAAAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4260239360 NC_000012.12:120898314:AAAAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5208492607 NC_000012.11:121336117:AAAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3972881875, ss4260239359 NC_000012.12:120898314:AAAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5208492603 NC_000012.11:121336117:AAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4260239358, ss5292482304, ss5758915854 NC_000012.12:120898314:AAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3972881871 NC_000012.12:120898315:AAA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3792434149, ss3797317320, ss5208492604 NC_000012.11:121336117:AA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4260239357, ss5487062445, ss5758915857 NC_000012.12:120898314:AA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3972881872 NC_000012.12:120898316:AA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4281596 NT_009775.17:11912648:AA: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
NC_000012.12:120898314:A: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3972881873 NC_000012.12:120898317:A: NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5208492605 NC_000012.11:121336117::A NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4260239351, ss5758915858 NC_000012.12:120898314::A NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss79990654 NT_009775.17:11912668::A NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5208492606 NC_000012.11:121336117::AA NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4260239352, ss5758915856 NC_000012.12:120898314::AA NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3972881874 NC_000012.12:120898318::AA NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4260239353 NC_000012.12:120898314::AAA NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
2911640337 NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4260239354 NC_000012.12:120898314::AAAA NC_000012.12:120898314:AAAAAAAAAAA…

NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs869283065

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