Name: rs34253596
Published: September 21, 2022
License: Open Access

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.

rs34253596

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:120890589-120890610 (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)₁₀ / del(A)₉ / del(A)₇ / del…
del(A)₁₀ / del(A)₉ / del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₁₃ / dup(A)₁₆ / ins(A)₂₈ / insAAAT(A)₅₈
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.1874 (1352/7214, ALFA)
delAA=0.4165 (2086/5008, 1000G)
delAA=0.39 (15/38, GENOME_DK)

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	7214	AAAAAAAAAAAAAAAAAAAAAA=0.7581	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0230, AAAAAAAAAAAAAAAAAAAA=0.1874, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0025, AAAAAAAAAAAAAAAAAAAAAAA=0.0229, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0035, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0026, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.67735	0.053929	0.268721	25
European	Sub	6290	AAAAAAAAAAAAAAAAAAAAAA=0.7231	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0262, AAAAAAAAAAAAAAAAAAAA=0.2146, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0029, AAAAAAAAAAAAAAAAAAAAAAA=0.0262, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0040, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0030, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.624282	0.062859	0.312859	12
African	Sub	484	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	26	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	458	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	24	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	18	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	6	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	26	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	238	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	24	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	128	AAAAAAAAAAAAAAAAAAAAAA=0.977	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.008, AAAAAAAAAAAAAAAAAAAA=0.016, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	0.984127	0.0	0.015873	0

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7214	(A)₂₂=0.7581	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₄=0.0000, delAAA=0.0230, delAA=0.1874, delA=0.0000, dupA=0.0229, dupAA=0.0000, dupAAA=0.0026, dup(A)₅=0.0035, dup(A)₆=0.0025
Allele Frequency Aggregator	European	Sub	6290	(A)₂₂=0.7231	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₄=0.0000, delAAA=0.0262, delAA=0.2146, delA=0.0000, dupA=0.0262, dupAA=0.0000, dupAAA=0.0030, dup(A)₅=0.0040, dup(A)₆=0.0029
Allele Frequency Aggregator	African	Sub	484	(A)₂₂=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₇=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, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	238	(A)₂₂=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₇=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, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	128	(A)₂₂=0.977	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₄=0.000, delAAA=0.008, delAA=0.016, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	26	(A)₂₂=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₇=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, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	24	(A)₂₂=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₇=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, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Asian	Sub	24	(A)₂₂=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₇=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, dup(A)₅=0.00, dup(A)₆=0.00
1000Genomes	Global	Study-wide	5008	(A)₂₂=0.5835	delAA=0.4165
1000Genomes	African	Sub	1322	(A)₂₂=0.6097	delAA=0.3903
1000Genomes	East Asian	Sub	1008	(A)₂₂=0.4931	delAA=0.5069
1000Genomes	Europe	Sub	1006	(A)₂₂=0.5915	delAA=0.4085
1000Genomes	South Asian	Sub	978	(A)₂₂=0.569	delAA=0.431
1000Genomes	American	Sub	694	(A)₂₂=0.674	delAA=0.326
The Danish reference pan genome	Danish	Study-wide	38	(A)₂₂=0.61	delAA=0.39

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.120890601_120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890602_120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890604_120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890606_120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890607_120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890608_120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890609_120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890610del
GRCh38.p14 chr 12	NC_000012.12:g.120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890609_120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890608_120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890607_120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890606_120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890605_120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890598_120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890595_120890610dup
GRCh38.p14 chr 12	NC_000012.12:g.120890610_120890611insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 12	NC_000012.12:g.120890589_120890610A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 12	NC_000012.11:g.121328404_121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328405_121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328407_121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328409_121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328410_121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328411_121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328412_121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328413del
GRCh37.p13 chr 12	NC_000012.11:g.121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328412_121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328411_121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328410_121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328409_121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328408_121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328401_121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328398_121328413dup
GRCh37.p13 chr 12	NC_000012.11:g.121328413_121328414insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 12	NC_000012.11:g.121328392_121328413A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Gene: SPPL3, signal peptide peptidase like 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPPL3 transcript	NM_139015.5:c.23+13247_23… NM_139015.5:c.23+13247_23+13256del	N/A	Intron Variant
SPPL3 transcript variant X1	XM_011537925.3:c.-24069_-… XM_011537925.3:c.-24069_-24048=	N/A	5 Prime UTR Variant

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

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)₂₂=	del(A)₁₀	del(A)₉	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₁₃	dup(A)₁₆	ins(A)₂₈	insAAAT(A)₅₈
GRCh38.p14 chr 12	NC_000012.12:g.120890589_120890610=	NC_000012.12:g.120890601_120890610del	NC_000012.12:g.120890602_120890610del	NC_000012.12:g.120890604_120890610del	NC_000012.12:g.120890606_120890610del	NC_000012.12:g.120890607_120890610del	NC_000012.12:g.120890608_120890610del	NC_000012.12:g.120890609_120890610del	NC_000012.12:g.120890610del	NC_000012.12:g.120890610dup	NC_000012.12:g.120890609_120890610dup	NC_000012.12:g.120890608_120890610dup	NC_000012.12:g.120890607_120890610dup	NC_000012.12:g.120890606_120890610dup	NC_000012.12:g.120890605_120890610dup	NC_000012.12:g.120890598_120890610dup	NC_000012.12:g.120890595_120890610dup	NC_000012.12:g.120890610_120890611insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:g.120890589_120890610A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 12	NC_000012.11:g.121328392_121328413=	NC_000012.11:g.121328404_121328413del	NC_000012.11:g.121328405_121328413del	NC_000012.11:g.121328407_121328413del	NC_000012.11:g.121328409_121328413del	NC_000012.11:g.121328410_121328413del	NC_000012.11:g.121328411_121328413del	NC_000012.11:g.121328412_121328413del	NC_000012.11:g.121328413del	NC_000012.11:g.121328413dup	NC_000012.11:g.121328412_121328413dup	NC_000012.11:g.121328411_121328413dup	NC_000012.11:g.121328410_121328413dup	NC_000012.11:g.121328409_121328413dup	NC_000012.11:g.121328408_121328413dup	NC_000012.11:g.121328401_121328413dup	NC_000012.11:g.121328398_121328413dup	NC_000012.11:g.121328413_121328414insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.11:g.121328392_121328413A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
SPPL3 transcript variant X1	XM_011537925.3:c.-24069_-24048=	XM_011537925.3:c.-24057_-24048del	XM_011537925.3:c.-24056_-24048del	XM_011537925.3:c.-24054_-24048del	XM_011537925.3:c.-24052_-24048del	XM_011537925.3:c.-24051_-24048del	XM_011537925.3:c.-24050_-24048del	XM_011537925.3:c.-24049_-24048del	XM_011537925.3:c.-24048del	XM_011537925.3:c.-24048dup	XM_011537925.3:c.-24049_-24048dup	XM_011537925.3:c.-24050_-24048dup	XM_011537925.3:c.-24051_-24048dup	XM_011537925.3:c.-24052_-24048dup	XM_011537925.3:c.-24053_-24048dup	XM_011537925.3:c.-24060_-24048dup	XM_011537925.3:c.-24063_-24048dup	XM_011537925.3:c.-24048_-24047insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011537925.3:c.-24069_-24048T[58]ATTTTTTTTTTTTTTTTTTTTTTTTT[1]
SPPL3 transcript	NM_139015.4:c.23+13256=	NM_139015.4:c.23+13247_23+13256del	NM_139015.4:c.23+13248_23+13256del	NM_139015.4:c.23+13250_23+13256del	NM_139015.4:c.23+13252_23+13256del	NM_139015.4:c.23+13253_23+13256del	NM_139015.4:c.23+13254_23+13256del	NM_139015.4:c.23+13255_23+13256del	NM_139015.4:c.23+13256del	NM_139015.4:c.23+13256dup	NM_139015.4:c.23+13255_23+13256dup	NM_139015.4:c.23+13254_23+13256dup	NM_139015.4:c.23+13253_23+13256dup	NM_139015.4:c.23+13252_23+13256dup	NM_139015.4:c.23+13251_23+13256dup	NM_139015.4:c.23+13244_23+13256dup	NM_139015.4:c.23+13241_23+13256dup	NM_139015.4:c.23+13256_23+13257insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_139015.4:c.23+13256_23+13257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
SPPL3 transcript	NM_139015.5:c.23+13256=	NM_139015.5:c.23+13247_23+13256del	NM_139015.5:c.23+13248_23+13256del	NM_139015.5:c.23+13250_23+13256del	NM_139015.5:c.23+13252_23+13256del	NM_139015.5:c.23+13253_23+13256del	NM_139015.5:c.23+13254_23+13256del	NM_139015.5:c.23+13255_23+13256del	NM_139015.5:c.23+13256del	NM_139015.5:c.23+13256dup	NM_139015.5:c.23+13255_23+13256dup	NM_139015.5:c.23+13254_23+13256dup	NM_139015.5:c.23+13253_23+13256dup	NM_139015.5:c.23+13252_23+13256dup	NM_139015.5:c.23+13251_23+13256dup	NM_139015.5:c.23+13244_23+13256dup	NM_139015.5:c.23+13241_23+13256dup	NM_139015.5:c.23+13256_23+13257insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_139015.5:c.23+13256_23+13257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT
SPPL3 transcript variant X1	XM_005253841.1:c.-89+11289=	XM_005253841.1:c.-89+11280_-89+11289del	XM_005253841.1:c.-89+11281_-89+11289del	XM_005253841.1:c.-89+11283_-89+11289del	XM_005253841.1:c.-89+11285_-89+11289del	XM_005253841.1:c.-89+11286_-89+11289del	XM_005253841.1:c.-89+11287_-89+11289del	XM_005253841.1:c.-89+11288_-89+11289del	XM_005253841.1:c.-89+11289del	XM_005253841.1:c.-89+11289dup	XM_005253841.1:c.-89+11288_-89+11289dup	XM_005253841.1:c.-89+11287_-89+11289dup	XM_005253841.1:c.-89+11286_-89+11289dup	XM_005253841.1:c.-89+11285_-89+11289dup	XM_005253841.1:c.-89+11284_-89+11289dup	XM_005253841.1:c.-89+11277_-89+11289dup	XM_005253841.1:c.-89+11274_-89+11289dup	XM_005253841.1:c.-89+11289_-89+11290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005253841.1:c.-89+11289_-89+11290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT

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#.

70 SubSNP, 39 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40126276	Mar 14, 2006 (137)
2	ABI	ss40177699	Mar 13, 2006 (126)
3	HGSV	ss80731685	Dec 15, 2007 (129)
4	HGSV	ss80782505	Dec 15, 2007 (129)
5	HUMANGENOME_JCVI	ss95609420	Mar 15, 2016 (147)
6	PJP	ss294778341	Aug 21, 2014 (142)
7	PJP	ss294778342	May 09, 2011 (134)
8	1000GENOMES	ss1372711556	Aug 21, 2014 (142)
9	EVA_GENOME_DK	ss1574578382	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1707652736	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1707652871	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1710584067	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710584068	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710584069	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1710584070	Apr 01, 2015 (144)
16	SWEGEN	ss3010463429	Nov 08, 2017 (151)
17	URBANLAB	ss3649935799	Oct 12, 2018 (152)
18	EVA_DECODE	ss3694610018	Jul 13, 2019 (153)
19	EVA_DECODE	ss3694610019	Jul 13, 2019 (153)
20	EVA_DECODE	ss3694610020	Jul 13, 2019 (153)
21	EVA_DECODE	ss3694610021	Jul 13, 2019 (153)
22	EVA_DECODE	ss3694610022	Jul 13, 2019 (153)
23	ACPOP	ss3739444044	Jul 13, 2019 (153)
24	ACPOP	ss3739444045	Jul 13, 2019 (153)
25	ACPOP	ss3739444046	Jul 13, 2019 (153)
26	ACPOP	ss3739444047	Jul 13, 2019 (153)
27	PACBIO	ss3787355260	Jul 13, 2019 (153)
28	PACBIO	ss3792434127	Jul 13, 2019 (153)
29	PACBIO	ss3797317297	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3816380359	Jul 13, 2019 (153)
31	EVA	ss3833362506	Apr 27, 2020 (154)
32	GNOMAD	ss4260238292	Apr 26, 2021 (155)
33	GNOMAD	ss4260238293	Apr 26, 2021 (155)
34	GNOMAD	ss4260238294	Apr 26, 2021 (155)
35	GNOMAD	ss4260238295	Apr 26, 2021 (155)
36	GNOMAD	ss4260238296	Apr 26, 2021 (155)
37	GNOMAD	ss4260238297	Apr 26, 2021 (155)
38	GNOMAD	ss4260238298	Apr 26, 2021 (155)
39	GNOMAD	ss4260238299	Apr 26, 2021 (155)
40	GNOMAD	ss4260238300	Apr 26, 2021 (155)
41	GNOMAD	ss4260238302	Apr 26, 2021 (155)
42	GNOMAD	ss4260238303	Apr 26, 2021 (155)
43	GNOMAD	ss4260238304	Apr 26, 2021 (155)
44	GNOMAD	ss4260238305	Apr 26, 2021 (155)
45	GNOMAD	ss4260238306	Apr 26, 2021 (155)
46	GNOMAD	ss4260238307	Apr 26, 2021 (155)
47	GNOMAD	ss4260238308	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5208492249	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5208492250	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5208492251	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5208492252	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5208492253	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5208492254	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5292482074	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5292482076	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5292482077	Oct 16, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5292482078	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5292482079	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5487062236	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5487062237	Oct 16, 2022 (156)
61	HUGCELL_USP	ss5487062238	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5487062239	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5758915403	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5758915404	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5758915405	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5758915406	Oct 16, 2022 (156)
67	EVA	ss5838610514	Oct 16, 2022 (156)
68	EVA	ss5838610515	Oct 16, 2022 (156)
69	EVA	ss5838610516	Oct 16, 2022 (156)
70	EVA	ss5838610517	Oct 16, 2022 (156)
71	1000Genomes	NC_000012.11 - 121328392	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33183235 (NC_000012.11:121328392:AA: 1134/3854) Row 33183236 (NC_000012.11:121328391:AAAA: 248/3854)	-	Oct 12, 2018 (152)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33183235 (NC_000012.11:121328392:AA: 1134/3854) Row 33183236 (NC_000012.11:121328391:AAAA: 248/3854)	-	Oct 12, 2018 (152)
74	The Danish reference pan genome	NC_000012.11 - 121328392	Apr 27, 2020 (154)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 421371226 (NC_000012.12:120890588::A 3840/83522) Row 421371227 (NC_000012.12:120890588::AA 49/83682) Row 421371228 (NC_000012.12:120890588::AAA 10/83736)...	-	Apr 26, 2021 (155)
92	Northern Sweden Submission ignored due to conflicting rows: Row 12728909 (NC_000012.11:121328391:AA: 154/572) Row 12728910 (NC_000012.11:121328391:AAA: 14/572) Row 12728911 (NC_000012.11:121328391::AAAAA 37/572)...	-	Jul 13, 2019 (153)
93	Northern Sweden Submission ignored due to conflicting rows: Row 12728909 (NC_000012.11:121328391:AA: 154/572) Row 12728910 (NC_000012.11:121328391:AAA: 14/572) Row 12728911 (NC_000012.11:121328391::AAAAA 37/572)...	-	Jul 13, 2019 (153)
94	Northern Sweden Submission ignored due to conflicting rows: Row 12728909 (NC_000012.11:121328391:AA: 154/572) Row 12728910 (NC_000012.11:121328391:AAA: 14/572) Row 12728911 (NC_000012.11:121328391::AAAAA 37/572)...	-	Jul 13, 2019 (153)
95	Northern Sweden Submission ignored due to conflicting rows: Row 12728909 (NC_000012.11:121328391:AA: 154/572) Row 12728910 (NC_000012.11:121328391:AAA: 14/572) Row 12728911 (NC_000012.11:121328391::AAAAA 37/572)...	-	Jul 13, 2019 (153)
96	8.3KJPN Submission ignored due to conflicting rows: Row 66461556 (NC_000012.11:121328391:AA: 6630/16626) Row 66461557 (NC_000012.11:121328391:AAA: 10/16626) Row 66461558 (NC_000012.11:121328391:A: 171/16626)...	-	Apr 26, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 66461556 (NC_000012.11:121328391:AA: 6630/16626) Row 66461557 (NC_000012.11:121328391:AAA: 10/16626) Row 66461558 (NC_000012.11:121328391:A: 171/16626)...	-	Apr 26, 2021 (155)
98	8.3KJPN Submission ignored due to conflicting rows: Row 66461556 (NC_000012.11:121328391:AA: 6630/16626) Row 66461557 (NC_000012.11:121328391:AAA: 10/16626) Row 66461558 (NC_000012.11:121328391:A: 171/16626)...	-	Apr 26, 2021 (155)
99	8.3KJPN Submission ignored due to conflicting rows: Row 66461556 (NC_000012.11:121328391:AA: 6630/16626) Row 66461557 (NC_000012.11:121328391:AAA: 10/16626) Row 66461558 (NC_000012.11:121328391:A: 171/16626)...	-	Apr 26, 2021 (155)
100	8.3KJPN Submission ignored due to conflicting rows: Row 66461556 (NC_000012.11:121328391:AA: 6630/16626) Row 66461557 (NC_000012.11:121328391:AAA: 10/16626) Row 66461558 (NC_000012.11:121328391:A: 171/16626)...	-	Apr 26, 2021 (155)
101	8.3KJPN Submission ignored due to conflicting rows: Row 66461556 (NC_000012.11:121328391:AA: 6630/16626) Row 66461557 (NC_000012.11:121328391:AAA: 10/16626) Row 66461558 (NC_000012.11:121328391:A: 171/16626)...	-	Apr 26, 2021 (155)
102	14KJPN Submission ignored due to conflicting rows: Row 92752507 (NC_000012.12:120890588:AA: 11460/27788) Row 92752508 (NC_000012.12:120890588:A: 294/27788) Row 92752509 (NC_000012.12:120890588::A 147/27788)...	-	Oct 16, 2022 (156)
103	14KJPN Submission ignored due to conflicting rows: Row 92752507 (NC_000012.12:120890588:AA: 11460/27788) Row 92752508 (NC_000012.12:120890588:A: 294/27788) Row 92752509 (NC_000012.12:120890588::A 147/27788)...	-	Oct 16, 2022 (156)
104	14KJPN Submission ignored due to conflicting rows: Row 92752507 (NC_000012.12:120890588:AA: 11460/27788) Row 92752508 (NC_000012.12:120890588:A: 294/27788) Row 92752509 (NC_000012.12:120890588::A 147/27788)...	-	Oct 16, 2022 (156)
105	14KJPN Submission ignored due to conflicting rows: Row 92752507 (NC_000012.12:120890588:AA: 11460/27788) Row 92752508 (NC_000012.12:120890588:A: 294/27788) Row 92752509 (NC_000012.12:120890588::A 147/27788)...	-	Oct 16, 2022 (156)
106	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33183234 (NC_000012.11:121328393:AA: 1885/3708) Row 33183235 (NC_000012.11:121328392:AAA: 1110/3708) Row 33183236 (NC_000012.11:121328391:AAAA: 255/3708)	-	Apr 27, 2020 (154)
107	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33183235 (NC_000012.11:121328392:AA: 1110/3708) Row 33183236 (NC_000012.11:121328391:AAAA: 255/3708)	-	Oct 12, 2018 (152)
108	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33183235 (NC_000012.11:121328392:AA: 1110/3708) Row 33183236 (NC_000012.11:121328391:AAAA: 255/3708)	-	Oct 12, 2018 (152)
109	ALFA	NC_000012.12 - 120890589	Apr 26, 2021 (155)

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)
rs34933314	Jul 30, 2012 (137)
rs67301860	May 11, 2012 (137)
rs67301861	Feb 27, 2009 (130)
rs71656450	Oct 12, 2011 (135)
rs72035229	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5208492254	NC_000012.11:121328391:AAAAAAAAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4260238308	NC_000012.12:120890588:AAAAAAAAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4260238307	NC_000012.12:120890588:AAAAAAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4260238306	NC_000012.12:120890588:AAAAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1707652736, ss1707652871, ss5838610516	NC_000012.11:121328391:AAAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3694610022, ss4260238305	NC_000012.12:120890588:AAAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss80731685, ss80782505	NC_000012.9:119791130:AAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3010463429, ss3739444045, ss5208492250, ss5838610515	NC_000012.11:121328391:AAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1710584069, ss1710584070	NC_000012.11:121328392:AAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4260238304, ss5292482078, ss5487062239, ss5758915406	NC_000012.12:120890588:AAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3694610021	NC_000012.12:120890589:AAA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss294778341	NC_000012.10:119812774:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss294778342	NC_000012.10:119812794:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
59738709, 383864, ss1372711556, ss1574578382, ss3739444044, ss3787355260, ss3792434127, ss3797317297, ss3833362506, ss5208492249, ss5838610514	NC_000012.11:121328391:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
	NC_000012.11:121328392:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1710584067, ss1710584068	NC_000012.11:121328393:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3816380359, ss4260238303, ss5292482074, ss5487062236, ss5758915403	NC_000012.12:120890588:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3694610020	NC_000012.12:120890590:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss95609420	NT_009775.17:11904941:AA:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5208492251	NC_000012.11:121328391:A:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3649935799, ss4260238302, ss5292482079, ss5487062238, ss5758915404	NC_000012.12:120890588:A:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3694610019	NC_000012.12:120890591:A:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss40177699	NT_009775.17:11904921:A:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss40126276	NT_009775.17:11904922:A:	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5208492252	NC_000012.11:121328391::A	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238292, ss5292482077, ss5487062237, ss5758915405	NC_000012.12:120890588::A	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3694610018	NC_000012.12:120890592::A	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238293, ss5292482076	NC_000012.12:120890588::AA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5208492253	NC_000012.11:121328391::AAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238294	NC_000012.12:120890588::AAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238295	NC_000012.12:120890588::AAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3739444046	NC_000012.11:121328391::AAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238296	NC_000012.12:120890588::AAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3739444047, ss5838610517	NC_000012.11:121328391::AAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238297	NC_000012.12:120890588::AAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6548812475	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238298	NC_000012.12:120890588::AAAAAAAAAA… NC_000012.12:120890588::AAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238299	NC_000012.12:120890588::AAAAAAAAAA… NC_000012.12:120890588::AAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4260238300	NC_000012.12:120890588::AAAAAAAAAA… NC_000012.12:120890588::AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000012.12:120890588::AAAAAAAAAA… NC_000012.12:120890588::AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000012.12:120890588:AAAAAAAAAAA… NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs34253596

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs34253596