Name: rs11311328
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.

rs11311328

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:112757386-112757407 (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)₁₃ / del(T)₁₂ / del(T)₁₁ / d…
del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₈ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₂ / dup(T)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.0993 (940/9462, ALFA)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CKAP2L : 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	9462	TTTTTTTTTTTTTTTTTTTTTT=0.8542	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0993, TTTTTTTTTTTTTTTTTTTTTTT=0.0274, TTTTTTTTTTTTTTTTTTTTTTTT=0.0111, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0024, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0027, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.833639	0.02547	0.14089	32
European	Sub	8720	TTTTTTTTTTTTTTTTTTTTTT=0.8419	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.1077, TTTTTTTTTTTTTTTTTTTTTTT=0.0297, TTTTTTTTTTTTTTTTTTTTTTTT=0.0120, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0031, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0026, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0030, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.81841	0.02784	0.15375	32
African	Sub	240	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	10	TTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	230	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	64	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	38	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	238	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	36	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	126	TTTTTTTTTTTTTTTTTTTTTT=0.992	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.008, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=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	9462	(T)₂₂=0.8542	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₈=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0993, dupT=0.0274, dupTT=0.0111, dupTTT=0.0029, dup(T)₄=0.0000, dup(T)₇=0.0027, dup(T)₈=0.0024
Allele Frequency Aggregator	European	Sub	8720	(T)₂₂=0.8419	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₈=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.1077, dupT=0.0297, dupTT=0.0120, dupTTT=0.0031, dup(T)₄=0.0000, dup(T)₇=0.0030, dup(T)₈=0.0026
Allele Frequency Aggregator	African	Sub	240	(T)₂₂=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₇=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Latin American 2	Sub	238	(T)₂₂=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₇=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Other	Sub	126	(T)₂₂=0.992	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₈=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.008, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₇=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Asian	Sub	64	(T)₂₂=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₈=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00, dup(T)₈=0.00
Allele Frequency Aggregator	Latin American 1	Sub	38	(T)₂₂=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₈=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00, dup(T)₈=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(T)₂₂=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₈=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00, dup(T)₈=0.00

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 2	NC_000002.12:g.112757395_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757396_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757397_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757398_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757400_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757402_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757403_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757404_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757405_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757406_112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757407del
GRCh38.p14 chr 2	NC_000002.12:g.112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757406_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757405_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757404_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757403_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757402_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757401_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757400_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757399_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757398_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757396_112757407dup
GRCh38.p14 chr 2	NC_000002.12:g.112757395_112757407dup
GRCh37.p13 chr 2	NC_000002.11:g.113514972_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514973_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514974_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514975_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514977_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514979_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514980_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514981_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514982_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514983_113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514984del
GRCh37.p13 chr 2	NC_000002.11:g.113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514983_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514982_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514981_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514980_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514979_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514978_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514977_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514976_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514975_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514973_113514984dup
GRCh37.p13 chr 2	NC_000002.11:g.113514972_113514984dup
CKAP2L RefSeqGene	NG_041820.1:g.12280_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12281_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12282_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12283_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12285_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12287_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12288_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12289_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12290_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12291_12292del
CKAP2L RefSeqGene	NG_041820.1:g.12292del
CKAP2L RefSeqGene	NG_041820.1:g.12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12291_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12290_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12289_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12288_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12287_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12286_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12285_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12284_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12283_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12281_12292dup
CKAP2L RefSeqGene	NG_041820.1:g.12280_12292dup

Gene: CKAP2L, cytoskeleton associated protein 2 like (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CKAP2L transcript variant 2	NM_001304361.2:c.-280-243… NM_001304361.2:c.-280-243_-280-231del	N/A	Intron Variant
CKAP2L transcript variant 1	NM_152515.5:c.157-184_157… NM_152515.5:c.157-184_157-172del	N/A	Intron Variant
CKAP2L transcript variant 3	NR_130712.2:n.	N/A	Intron Variant
CKAP2L transcript variant X1	XM_011510666.3:c.-339-184… XM_011510666.3:c.-339-184_-339-172del	N/A	Intron 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.

Allele: delTT (allele ID: 1236535 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001641939.2	not provided	Benign

Allele: delT (allele ID: 1212252 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001595125.3	not provided	Benign

Allele: dupT (allele ID: 1263653 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001685176.1	not provided	Benign

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)₂₂=	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₈	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₂	dup(T)₁₃
GRCh38.p14 chr 2	NC_000002.12:g.112757386_112757407=	NC_000002.12:g.112757395_112757407del	NC_000002.12:g.112757396_112757407del	NC_000002.12:g.112757397_112757407del	NC_000002.12:g.112757398_112757407del	NC_000002.12:g.112757400_112757407del	NC_000002.12:g.112757402_112757407del	NC_000002.12:g.112757403_112757407del	NC_000002.12:g.112757404_112757407del	NC_000002.12:g.112757405_112757407del	NC_000002.12:g.112757406_112757407del	NC_000002.12:g.112757407del	NC_000002.12:g.112757407dup	NC_000002.12:g.112757406_112757407dup	NC_000002.12:g.112757405_112757407dup	NC_000002.12:g.112757404_112757407dup	NC_000002.12:g.112757403_112757407dup	NC_000002.12:g.112757402_112757407dup	NC_000002.12:g.112757401_112757407dup	NC_000002.12:g.112757400_112757407dup	NC_000002.12:g.112757399_112757407dup	NC_000002.12:g.112757398_112757407dup	NC_000002.12:g.112757396_112757407dup	NC_000002.12:g.112757395_112757407dup
GRCh37.p13 chr 2	NC_000002.11:g.113514963_113514984=	NC_000002.11:g.113514972_113514984del	NC_000002.11:g.113514973_113514984del	NC_000002.11:g.113514974_113514984del	NC_000002.11:g.113514975_113514984del	NC_000002.11:g.113514977_113514984del	NC_000002.11:g.113514979_113514984del	NC_000002.11:g.113514980_113514984del	NC_000002.11:g.113514981_113514984del	NC_000002.11:g.113514982_113514984del	NC_000002.11:g.113514983_113514984del	NC_000002.11:g.113514984del	NC_000002.11:g.113514984dup	NC_000002.11:g.113514983_113514984dup	NC_000002.11:g.113514982_113514984dup	NC_000002.11:g.113514981_113514984dup	NC_000002.11:g.113514980_113514984dup	NC_000002.11:g.113514979_113514984dup	NC_000002.11:g.113514978_113514984dup	NC_000002.11:g.113514977_113514984dup	NC_000002.11:g.113514976_113514984dup	NC_000002.11:g.113514975_113514984dup	NC_000002.11:g.113514973_113514984dup	NC_000002.11:g.113514972_113514984dup
CKAP2L RefSeqGene	NG_041820.1:g.12271_12292=	NG_041820.1:g.12280_12292del	NG_041820.1:g.12281_12292del	NG_041820.1:g.12282_12292del	NG_041820.1:g.12283_12292del	NG_041820.1:g.12285_12292del	NG_041820.1:g.12287_12292del	NG_041820.1:g.12288_12292del	NG_041820.1:g.12289_12292del	NG_041820.1:g.12290_12292del	NG_041820.1:g.12291_12292del	NG_041820.1:g.12292del	NG_041820.1:g.12292dup	NG_041820.1:g.12291_12292dup	NG_041820.1:g.12290_12292dup	NG_041820.1:g.12289_12292dup	NG_041820.1:g.12288_12292dup	NG_041820.1:g.12287_12292dup	NG_041820.1:g.12286_12292dup	NG_041820.1:g.12285_12292dup	NG_041820.1:g.12284_12292dup	NG_041820.1:g.12283_12292dup	NG_041820.1:g.12281_12292dup	NG_041820.1:g.12280_12292dup
CKAP2L transcript variant 2	NM_001304361.2:c.-280-231=	NM_001304361.2:c.-280-243_-280-231del	NM_001304361.2:c.-280-242_-280-231del	NM_001304361.2:c.-280-241_-280-231del	NM_001304361.2:c.-280-240_-280-231del	NM_001304361.2:c.-280-238_-280-231del	NM_001304361.2:c.-280-236_-280-231del	NM_001304361.2:c.-280-235_-280-231del	NM_001304361.2:c.-280-234_-280-231del	NM_001304361.2:c.-280-233_-280-231del	NM_001304361.2:c.-280-232_-280-231del	NM_001304361.2:c.-280-231del	NM_001304361.2:c.-280-231dup	NM_001304361.2:c.-280-232_-280-231dup	NM_001304361.2:c.-280-233_-280-231dup	NM_001304361.2:c.-280-234_-280-231dup	NM_001304361.2:c.-280-235_-280-231dup	NM_001304361.2:c.-280-236_-280-231dup	NM_001304361.2:c.-280-237_-280-231dup	NM_001304361.2:c.-280-238_-280-231dup	NM_001304361.2:c.-280-239_-280-231dup	NM_001304361.2:c.-280-240_-280-231dup	NM_001304361.2:c.-280-242_-280-231dup	NM_001304361.2:c.-280-243_-280-231dup
CKAP2L transcript	NM_152515.3:c.157-172=	NM_152515.3:c.157-184_157-172del	NM_152515.3:c.157-183_157-172del	NM_152515.3:c.157-182_157-172del	NM_152515.3:c.157-181_157-172del	NM_152515.3:c.157-179_157-172del	NM_152515.3:c.157-177_157-172del	NM_152515.3:c.157-176_157-172del	NM_152515.3:c.157-175_157-172del	NM_152515.3:c.157-174_157-172del	NM_152515.3:c.157-173_157-172del	NM_152515.3:c.157-172del	NM_152515.3:c.157-172dup	NM_152515.3:c.157-173_157-172dup	NM_152515.3:c.157-174_157-172dup	NM_152515.3:c.157-175_157-172dup	NM_152515.3:c.157-176_157-172dup	NM_152515.3:c.157-177_157-172dup	NM_152515.3:c.157-178_157-172dup	NM_152515.3:c.157-179_157-172dup	NM_152515.3:c.157-180_157-172dup	NM_152515.3:c.157-181_157-172dup	NM_152515.3:c.157-183_157-172dup	NM_152515.3:c.157-184_157-172dup
CKAP2L transcript variant 1	NM_152515.5:c.157-172=	NM_152515.5:c.157-184_157-172del	NM_152515.5:c.157-183_157-172del	NM_152515.5:c.157-182_157-172del	NM_152515.5:c.157-181_157-172del	NM_152515.5:c.157-179_157-172del	NM_152515.5:c.157-177_157-172del	NM_152515.5:c.157-176_157-172del	NM_152515.5:c.157-175_157-172del	NM_152515.5:c.157-174_157-172del	NM_152515.5:c.157-173_157-172del	NM_152515.5:c.157-172del	NM_152515.5:c.157-172dup	NM_152515.5:c.157-173_157-172dup	NM_152515.5:c.157-174_157-172dup	NM_152515.5:c.157-175_157-172dup	NM_152515.5:c.157-176_157-172dup	NM_152515.5:c.157-177_157-172dup	NM_152515.5:c.157-178_157-172dup	NM_152515.5:c.157-179_157-172dup	NM_152515.5:c.157-180_157-172dup	NM_152515.5:c.157-181_157-172dup	NM_152515.5:c.157-183_157-172dup	NM_152515.5:c.157-184_157-172dup
CKAP2L transcript variant X1	XM_011510666.3:c.-339-172=	XM_011510666.3:c.-339-184_-339-172del	XM_011510666.3:c.-339-183_-339-172del	XM_011510666.3:c.-339-182_-339-172del	XM_011510666.3:c.-339-181_-339-172del	XM_011510666.3:c.-339-179_-339-172del	XM_011510666.3:c.-339-177_-339-172del	XM_011510666.3:c.-339-176_-339-172del	XM_011510666.3:c.-339-175_-339-172del	XM_011510666.3:c.-339-174_-339-172del	XM_011510666.3:c.-339-173_-339-172del	XM_011510666.3:c.-339-172del	XM_011510666.3:c.-339-172dup	XM_011510666.3:c.-339-173_-339-172dup	XM_011510666.3:c.-339-174_-339-172dup	XM_011510666.3:c.-339-175_-339-172dup	XM_011510666.3:c.-339-176_-339-172dup	XM_011510666.3:c.-339-177_-339-172dup	XM_011510666.3:c.-339-178_-339-172dup	XM_011510666.3:c.-339-179_-339-172dup	XM_011510666.3:c.-339-180_-339-172dup	XM_011510666.3:c.-339-181_-339-172dup	XM_011510666.3:c.-339-183_-339-172dup	XM_011510666.3:c.-339-184_-339-172dup

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#.

50 SubSNP, 35 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41673732	Mar 15, 2006 (137)
2	PJP	ss294997858	May 09, 2011 (137)
3	SSMP	ss663225716	Apr 01, 2015 (144)
4	SWEGEN	ss2990197067	Jan 10, 2018 (151)
5	MCHAISSO	ss3065759628	Jan 10, 2018 (151)
6	PACBIO	ss3783959679	Jul 13, 2019 (153)
7	PACBIO	ss3789528829	Jul 13, 2019 (153)
8	PACBIO	ss3794401626	Jul 13, 2019 (153)
9	EVA	ss3827156285	Apr 25, 2020 (154)
10	GNOMAD	ss4048480128	Apr 26, 2021 (155)
11	GNOMAD	ss4048480129	Apr 26, 2021 (155)
12	GNOMAD	ss4048480130	Apr 26, 2021 (155)
13	GNOMAD	ss4048480131	Apr 26, 2021 (155)
14	GNOMAD	ss4048480132	Apr 26, 2021 (155)
15	GNOMAD	ss4048480133	Apr 26, 2021 (155)
16	GNOMAD	ss4048480134	Apr 26, 2021 (155)
17	GNOMAD	ss4048480135	Apr 26, 2021 (155)
18	GNOMAD	ss4048480136	Apr 26, 2021 (155)
19	GNOMAD	ss4048480137	Apr 26, 2021 (155)
20	GNOMAD	ss4048480138	Apr 26, 2021 (155)
21	GNOMAD	ss4048480139	Apr 26, 2021 (155)
22	GNOMAD	ss4048480140	Apr 26, 2021 (155)
23	GNOMAD	ss4048480141	Apr 26, 2021 (155)
24	GNOMAD	ss4048480142	Apr 26, 2021 (155)
25	GNOMAD	ss4048480143	Apr 26, 2021 (155)
26	GNOMAD	ss4048480144	Apr 26, 2021 (155)
27	GNOMAD	ss4048480145	Apr 26, 2021 (155)
28	GNOMAD	ss4048480146	Apr 26, 2021 (155)
29	GNOMAD	ss4048480147	Apr 26, 2021 (155)
30	TOPMED	ss4519396562	Apr 26, 2021 (155)
31	TOPMED	ss4519396563	Apr 26, 2021 (155)
32	TOPMED	ss4519396564	Apr 26, 2021 (155)
33	TOPMED	ss4519396565	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5153253545	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5153253546	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5153253547	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5153253548	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5249537391	Oct 12, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5249537392	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5249537393	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5249537394	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5449429984	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5449429985	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5449429986	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5449429987	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5683196708	Oct 12, 2022 (156)
47	TOMMO_GENOMICS	ss5683196709	Oct 12, 2022 (156)
48	TOMMO_GENOMICS	ss5683196711	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5683196712	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5683196713	Oct 12, 2022 (156)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 69938575 (NC_000002.12:112757385::T 8186/80384) Row 69938576 (NC_000002.12:112757385::TT 833/80380) Row 69938577 (NC_000002.12:112757385::TTT 231/80448)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 11222852 (NC_000002.11:113514962:T: 2249/16672) Row 11222853 (NC_000002.11:113514962::T 313/16672) Row 11222854 (NC_000002.11:113514962:TT: 7/16672)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 11222852 (NC_000002.11:113514962:T: 2249/16672) Row 11222853 (NC_000002.11:113514962::T 313/16672) Row 11222854 (NC_000002.11:113514962:TT: 7/16672)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 11222852 (NC_000002.11:113514962:T: 2249/16672) Row 11222853 (NC_000002.11:113514962::T 313/16672) Row 11222854 (NC_000002.11:113514962:TT: 7/16672)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 11222852 (NC_000002.11:113514962:T: 2249/16672) Row 11222853 (NC_000002.11:113514962::T 313/16672) Row 11222854 (NC_000002.11:113514962:TT: 7/16672)...	-	Apr 26, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 17033812 (NC_000002.12:112757385:T: 4726/28244) Row 17033813 (NC_000002.12:112757385::T 575/28244) Row 17033815 (NC_000002.12:112757385:TT: 17/28244)...	-	Oct 12, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 17033812 (NC_000002.12:112757385:T: 4726/28244) Row 17033813 (NC_000002.12:112757385::T 575/28244) Row 17033815 (NC_000002.12:112757385:TT: 17/28244)...	-	Oct 12, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 17033812 (NC_000002.12:112757385:T: 4726/28244) Row 17033813 (NC_000002.12:112757385::T 575/28244) Row 17033815 (NC_000002.12:112757385:TT: 17/28244)...	-	Oct 12, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 17033812 (NC_000002.12:112757385:T: 4726/28244) Row 17033813 (NC_000002.12:112757385::T 575/28244) Row 17033815 (NC_000002.12:112757385:TT: 17/28244)...	-	Oct 12, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 17033812 (NC_000002.12:112757385:T: 4726/28244) Row 17033813 (NC_000002.12:112757385::T 575/28244) Row 17033815 (NC_000002.12:112757385:TT: 17/28244)...	-	Oct 12, 2022 (156)
81	TopMed Submission ignored due to conflicting rows: Row 323219441 (NC_000002.12:112757385:TTTTTTTT: 11/264690) Row 323219442 (NC_000002.12:112757385:TTTTTTTTTT: 2/264690) Row 323219443 (NC_000002.12:112757385:TTTTTTTTTTT: 3/264690)...	-	Apr 26, 2021 (155)
82	TopMed Submission ignored due to conflicting rows: Row 323219441 (NC_000002.12:112757385:TTTTTTTT: 11/264690) Row 323219442 (NC_000002.12:112757385:TTTTTTTTTT: 2/264690) Row 323219443 (NC_000002.12:112757385:TTTTTTTTTTT: 3/264690)...	-	Apr 26, 2021 (155)
83	TopMed Submission ignored due to conflicting rows: Row 323219441 (NC_000002.12:112757385:TTTTTTTT: 11/264690) Row 323219442 (NC_000002.12:112757385:TTTTTTTTTT: 2/264690) Row 323219443 (NC_000002.12:112757385:TTTTTTTTTTT: 3/264690)...	-	Apr 26, 2021 (155)
84	TopMed Submission ignored due to conflicting rows: Row 323219441 (NC_000002.12:112757385:TTTTTTTT: 11/264690) Row 323219442 (NC_000002.12:112757385:TTTTTTTTTT: 2/264690) Row 323219443 (NC_000002.12:112757385:TTTTTTTTTTT: 3/264690)...	-	Apr 26, 2021 (155)
85	ALFA	NC_000002.12 - 112757386	Apr 26, 2021 (155)
86	ClinVar	RCV001595125.3	Oct 12, 2022 (156)
87	ClinVar	RCV001641939.2	Oct 12, 2022 (156)
88	ClinVar	RCV001685176.1	Oct 12, 2022 (156)

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)
rs35581432	May 23, 2006 (127)
rs35845847	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4048480147, ss4519396565	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4048480146	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5153253548	NC_000002.11:113514962:TTTTTTTTTTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4048480145, ss4519396564, ss5683196713	NC_000002.12:112757385:TTTTTTTTTTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4048480144, ss4519396563	NC_000002.12:112757385:TTTTTTTTTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4048480143, ss4519396562	NC_000002.12:112757385:TTTTTTTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4048480142	NC_000002.12:112757385:TTTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4048480141	NC_000002.12:112757385:TTT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss2990197067, ss5153253547	NC_000002.11:113514962:TT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3065759628, ss4048480140, ss5249537392, ss5449429986, ss5683196711	NC_000002.12:112757385:TT:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
RCV001641939.2, 9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss294997858	NC_000002.10:113231433:T:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3783959679, ss3789528829, ss3794401626, ss5153253545	NC_000002.11:113514962:T:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5449429984, ss5683196708	NC_000002.12:112757385:T:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
RCV001595125.3, 9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss41673732	NT_022135.16:3263625:T:	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss663225716, ss3827156285, ss5153253546	NC_000002.11:113514962::T	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480128, ss5249537391, ss5449429985, ss5683196709	NC_000002.12:112757385::T	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
RCV001685176.1, 9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480129, ss5249537393, ss5449429987, ss5683196712	NC_000002.12:112757385::TT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480130, ss5249537394	NC_000002.12:112757385::TTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480131	NC_000002.12:112757385::TTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480132	NC_000002.12:112757385::TTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480133	NC_000002.12:112757385::TTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480134	NC_000002.12:112757385::TTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480135	NC_000002.12:112757385::TTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9024187984	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480136	NC_000002.12:112757385::TTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480137	NC_000002.12:112757385::TTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480138	NC_000002.12:112757385::TTTTTTTTTT… NC_000002.12:112757385::TTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4048480139	NC_000002.12:112757385::TTTTTTTTTT… NC_000002.12:112757385::TTTTTTTTTTTTT	NC_000002.12:112757385:TTTTTTTTTTT… NC_000002.12:112757385:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11311328

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

rs11311328