Name: rs10686138
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.

rs10686138

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:54519430-54519450 (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)₉ / del(T)₈ / del(T)₇ / del(…
del(T)₉ / del(T)₈ / del(T)₇ / 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)₁₀ / dup(T)₁₂ / dup(T)₁₃ / dup(T)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.3274 (1742/5320, ALFA)
dupT=0.4445 (2226/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NCKAP1L : 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	5320	TTTTTTTTTTTTTTTTTTTTT=0.4321	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.1951, TTTTTTTTTTTTTTTTTTTTTTT=0.3274, TTTTTTTTTTTTTTTTTTTTTTTT=0.0336, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0026, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0023, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0068, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.533923	0.285546	0.180531	32
European	Sub	5106	TTTTTTTTTTTTTTTTTTTTT=0.4099	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.2025, TTTTTTTTTTTTTTTTTTTTTTT=0.3404, TTTTTTTTTTTTTTTTTTTTTTTT=0.0351, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0027, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0024, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0071, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.504085	0.303583	0.192332	32
African	Sub	104	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	TTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	100	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	18	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	38	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	8	TTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	46	TTTTTTTTTTTTTTTTTTTTT=0.83	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.09, TTTTTTTTTTTTTTTTTTTTTTT=0.09, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.95	0.05	0.0	11

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	5320	(T)₂₁=0.4321	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.1951, dupTT=0.3274, dupTTT=0.0336, dup(T)₄=0.0000, dup(T)₅=0.0023, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₁₂=0.0068, dup(T)₁₃=0.0026
Allele Frequency Aggregator	European	Sub	5106	(T)₂₁=0.4099	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.2025, dupTT=0.3404, dupTTT=0.0351, dup(T)₄=0.0000, dup(T)₅=0.0024, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₁₂=0.0071, dup(T)₁₃=0.0027
Allele Frequency Aggregator	African	Sub	104	(T)₂₁=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=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)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₁₂=0.000, dup(T)₁₃=0.000
Allele Frequency Aggregator	Other	Sub	46	(T)₂₁=0.83	del(T)₉=0.00, del(T)₈=0.00, del(T)₇=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=0.09, dupTT=0.09, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00
Allele Frequency Aggregator	Latin American 2	Sub	38	(T)₂₁=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₇=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)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(T)₂₁=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₇=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)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(T)₂₁=1.0	del(T)₉=0.0, del(T)₈=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0, dup(T)₁₂=0.0, dup(T)₁₃=0.0
Allele Frequency Aggregator	Asian	Sub	0	(T)₂₁=0	del(T)₉=0, del(T)₈=0, del(T)₇=0, del(T)₆=0, del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0, dup(T)₆=0, dup(T)₇=0, dup(T)₁₂=0, dup(T)₁₃=0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.4445
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.4085
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.4891
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.4463
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.455
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.431

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.54519442_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519443_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519444_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519445_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519446_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519447_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519448_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519449_54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519450del
GRCh38.p14 chr 12	NC_000012.12:g.54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519449_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519448_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519447_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519446_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519445_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519444_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519441_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519439_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519438_54519450dup
GRCh38.p14 chr 12	NC_000012.12:g.54519436_54519450dup
GRCh37.p13 chr 12	NC_000012.11:g.54913226_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913227_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913228_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913229_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913230_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913231_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913232_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913233_54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913234del
GRCh37.p13 chr 12	NC_000012.11:g.54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913233_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913232_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913231_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913230_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913229_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913228_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913225_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913223_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913222_54913234dup
GRCh37.p13 chr 12	NC_000012.11:g.54913220_54913234dup

Gene: NCKAP1L, NCK associated protein 1 like (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NCKAP1L transcript variant 2	NM_001184976.2:c.1475+110… NM_001184976.2:c.1475+110_1475+118del	N/A	Intron Variant
NCKAP1L transcript variant 1	NM_005337.5:c.1625+110_16… NM_005337.5:c.1625+110_1625+118del	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.

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	(T)₂₁=	del(T)₉	del(T)₈	del(T)₇	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)₁₀	dup(T)₁₂	dup(T)₁₃	dup(T)₁₅
GRCh38.p14 chr 12	NC_000012.12:g.54519430_54519450=	NC_000012.12:g.54519442_54519450del	NC_000012.12:g.54519443_54519450del	NC_000012.12:g.54519444_54519450del	NC_000012.12:g.54519445_54519450del	NC_000012.12:g.54519446_54519450del	NC_000012.12:g.54519447_54519450del	NC_000012.12:g.54519448_54519450del	NC_000012.12:g.54519449_54519450del	NC_000012.12:g.54519450del	NC_000012.12:g.54519450dup	NC_000012.12:g.54519449_54519450dup	NC_000012.12:g.54519448_54519450dup	NC_000012.12:g.54519447_54519450dup	NC_000012.12:g.54519446_54519450dup	NC_000012.12:g.54519445_54519450dup	NC_000012.12:g.54519444_54519450dup	NC_000012.12:g.54519441_54519450dup	NC_000012.12:g.54519439_54519450dup	NC_000012.12:g.54519438_54519450dup	NC_000012.12:g.54519436_54519450dup
GRCh37.p13 chr 12	NC_000012.11:g.54913214_54913234=	NC_000012.11:g.54913226_54913234del	NC_000012.11:g.54913227_54913234del	NC_000012.11:g.54913228_54913234del	NC_000012.11:g.54913229_54913234del	NC_000012.11:g.54913230_54913234del	NC_000012.11:g.54913231_54913234del	NC_000012.11:g.54913232_54913234del	NC_000012.11:g.54913233_54913234del	NC_000012.11:g.54913234del	NC_000012.11:g.54913234dup	NC_000012.11:g.54913233_54913234dup	NC_000012.11:g.54913232_54913234dup	NC_000012.11:g.54913231_54913234dup	NC_000012.11:g.54913230_54913234dup	NC_000012.11:g.54913229_54913234dup	NC_000012.11:g.54913228_54913234dup	NC_000012.11:g.54913225_54913234dup	NC_000012.11:g.54913223_54913234dup	NC_000012.11:g.54913222_54913234dup	NC_000012.11:g.54913220_54913234dup
NCKAP1L transcript variant 2	NM_001184976.1:c.1475+98=	NM_001184976.1:c.1475+110_1475+118del	NM_001184976.1:c.1475+111_1475+118del	NM_001184976.1:c.1475+112_1475+118del	NM_001184976.1:c.1475+113_1475+118del	NM_001184976.1:c.1475+114_1475+118del	NM_001184976.1:c.1475+115_1475+118del	NM_001184976.1:c.1475+116_1475+118del	NM_001184976.1:c.1475+117_1475+118del	NM_001184976.1:c.1475+118del	NM_001184976.1:c.1475+118dup	NM_001184976.1:c.1475+117_1475+118dup	NM_001184976.1:c.1475+116_1475+118dup	NM_001184976.1:c.1475+115_1475+118dup	NM_001184976.1:c.1475+114_1475+118dup	NM_001184976.1:c.1475+113_1475+118dup	NM_001184976.1:c.1475+112_1475+118dup	NM_001184976.1:c.1475+109_1475+118dup	NM_001184976.1:c.1475+107_1475+118dup	NM_001184976.1:c.1475+106_1475+118dup	NM_001184976.1:c.1475+104_1475+118dup
NCKAP1L transcript variant 2	NM_001184976.2:c.1475+98=	NM_001184976.2:c.1475+110_1475+118del	NM_001184976.2:c.1475+111_1475+118del	NM_001184976.2:c.1475+112_1475+118del	NM_001184976.2:c.1475+113_1475+118del	NM_001184976.2:c.1475+114_1475+118del	NM_001184976.2:c.1475+115_1475+118del	NM_001184976.2:c.1475+116_1475+118del	NM_001184976.2:c.1475+117_1475+118del	NM_001184976.2:c.1475+118del	NM_001184976.2:c.1475+118dup	NM_001184976.2:c.1475+117_1475+118dup	NM_001184976.2:c.1475+116_1475+118dup	NM_001184976.2:c.1475+115_1475+118dup	NM_001184976.2:c.1475+114_1475+118dup	NM_001184976.2:c.1475+113_1475+118dup	NM_001184976.2:c.1475+112_1475+118dup	NM_001184976.2:c.1475+109_1475+118dup	NM_001184976.2:c.1475+107_1475+118dup	NM_001184976.2:c.1475+106_1475+118dup	NM_001184976.2:c.1475+104_1475+118dup
NCKAP1L transcript variant 1	NM_005337.4:c.1625+98=	NM_005337.4:c.1625+110_1625+118del	NM_005337.4:c.1625+111_1625+118del	NM_005337.4:c.1625+112_1625+118del	NM_005337.4:c.1625+113_1625+118del	NM_005337.4:c.1625+114_1625+118del	NM_005337.4:c.1625+115_1625+118del	NM_005337.4:c.1625+116_1625+118del	NM_005337.4:c.1625+117_1625+118del	NM_005337.4:c.1625+118del	NM_005337.4:c.1625+118dup	NM_005337.4:c.1625+117_1625+118dup	NM_005337.4:c.1625+116_1625+118dup	NM_005337.4:c.1625+115_1625+118dup	NM_005337.4:c.1625+114_1625+118dup	NM_005337.4:c.1625+113_1625+118dup	NM_005337.4:c.1625+112_1625+118dup	NM_005337.4:c.1625+109_1625+118dup	NM_005337.4:c.1625+107_1625+118dup	NM_005337.4:c.1625+106_1625+118dup	NM_005337.4:c.1625+104_1625+118dup
NCKAP1L transcript variant 1	NM_005337.5:c.1625+98=	NM_005337.5:c.1625+110_1625+118del	NM_005337.5:c.1625+111_1625+118del	NM_005337.5:c.1625+112_1625+118del	NM_005337.5:c.1625+113_1625+118del	NM_005337.5:c.1625+114_1625+118del	NM_005337.5:c.1625+115_1625+118del	NM_005337.5:c.1625+116_1625+118del	NM_005337.5:c.1625+117_1625+118del	NM_005337.5:c.1625+118del	NM_005337.5:c.1625+118dup	NM_005337.5:c.1625+117_1625+118dup	NM_005337.5:c.1625+116_1625+118dup	NM_005337.5:c.1625+115_1625+118dup	NM_005337.5:c.1625+114_1625+118dup	NM_005337.5:c.1625+113_1625+118dup	NM_005337.5:c.1625+112_1625+118dup	NM_005337.5:c.1625+109_1625+118dup	NM_005337.5:c.1625+107_1625+118dup	NM_005337.5:c.1625+106_1625+118dup	NM_005337.5:c.1625+104_1625+118dup

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#.

60 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40102243	Mar 13, 2006 (137)
2	HGSV	ss80360122	Dec 14, 2007 (129)
3	HUMANGENOME_JCVI	ss95597221	Feb 05, 2009 (137)
4	HUMANGENOME_JCVI	ss97271652	Feb 13, 2009 (137)
5	BCMHGSC_JDW	ss103532546	Mar 15, 2016 (147)
6	PJP	ss294753280	May 09, 2011 (137)
7	BILGI_BIOE	ss666570406	Apr 25, 2013 (138)
8	1000GENOMES	ss1372192506	Aug 21, 2014 (142)
9	DDI	ss1536727796	Apr 01, 2015 (144)
10	SWEGEN	ss3009721876	Nov 08, 2017 (151)
11	URBANLAB	ss3649842218	Oct 12, 2018 (152)
12	EVA_DECODE	ss3693710480	Jul 13, 2019 (153)
13	EVA_DECODE	ss3693710481	Jul 13, 2019 (153)
14	EVA_DECODE	ss3693710482	Jul 13, 2019 (153)
15	EVA_DECODE	ss3693710483	Jul 13, 2019 (153)
16	KHV_HUMAN_GENOMES	ss3815833058	Jul 13, 2019 (153)
17	EVA	ss3833133459	Apr 27, 2020 (154)
18	EVA	ss3845622995	Apr 27, 2020 (154)
19	GNOMAD	ss4252157621	Apr 26, 2021 (155)
20	GNOMAD	ss4252157622	Apr 26, 2021 (155)
21	GNOMAD	ss4252157623	Apr 26, 2021 (155)
22	GNOMAD	ss4252157624	Apr 26, 2021 (155)
23	GNOMAD	ss4252157625	Apr 26, 2021 (155)
24	GNOMAD	ss4252157626	Apr 26, 2021 (155)
25	GNOMAD	ss4252157627	Apr 26, 2021 (155)
26	GNOMAD	ss4252157628	Apr 26, 2021 (155)
27	GNOMAD	ss4252157629	Apr 26, 2021 (155)
28	GNOMAD	ss4252157630	Apr 26, 2021 (155)
29	GNOMAD	ss4252157632	Apr 26, 2021 (155)
30	GNOMAD	ss4252157633	Apr 26, 2021 (155)
31	GNOMAD	ss4252157634	Apr 26, 2021 (155)
32	GNOMAD	ss4252157635	Apr 26, 2021 (155)
33	GNOMAD	ss4252157636	Apr 26, 2021 (155)
34	GNOMAD	ss4252157637	Apr 26, 2021 (155)
35	GNOMAD	ss4252157638	Apr 26, 2021 (155)
36	GNOMAD	ss4252157639	Apr 26, 2021 (155)
37	GNOMAD	ss4252157640	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5206416516	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5206416517	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5206416518	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5206416519	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5206416520	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5206416521	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5290880415	Oct 13, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5290880416	Oct 13, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5290880417	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5290880418	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5485625425	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5485625426	Oct 13, 2022 (156)
50	HUGCELL_USP	ss5485625427	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5485625428	Oct 13, 2022 (156)
52	HUGCELL_USP	ss5485625429	Oct 13, 2022 (156)
53	EVA	ss5623957954	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5756237326	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5756237327	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5756237328	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5756237329	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5756237330	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5756237331	Oct 13, 2022 (156)
60	EVA	ss5800177852	Oct 13, 2022 (156)
61	1000Genomes	NC_000012.11 - 54913214	Oct 12, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407926367 (NC_000012.12:54519429::T 39378/112194) Row 407926368 (NC_000012.12:54519429::TT 40218/112118) Row 407926369 (NC_000012.12:54519429::TTT 606/112238)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 64385823 (NC_000012.11:54913213::T 12507/16730) Row 64385824 (NC_000012.11:54913213::TT 963/16730) Row 64385825 (NC_000012.11:54913213::TTTTT 1602/16730)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 64385823 (NC_000012.11:54913213::T 12507/16730) Row 64385824 (NC_000012.11:54913213::TT 963/16730) Row 64385825 (NC_000012.11:54913213::TTTTT 1602/16730)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 64385823 (NC_000012.11:54913213::T 12507/16730) Row 64385824 (NC_000012.11:54913213::TT 963/16730) Row 64385825 (NC_000012.11:54913213::TTTTT 1602/16730)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 64385823 (NC_000012.11:54913213::T 12507/16730) Row 64385824 (NC_000012.11:54913213::TT 963/16730) Row 64385825 (NC_000012.11:54913213::TTTTT 1602/16730)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 64385823 (NC_000012.11:54913213::T 12507/16730) Row 64385824 (NC_000012.11:54913213::TT 963/16730) Row 64385825 (NC_000012.11:54913213::TTTTT 1602/16730)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 64385823 (NC_000012.11:54913213::T 12507/16730) Row 64385824 (NC_000012.11:54913213::TT 963/16730) Row 64385825 (NC_000012.11:54913213::TTTTT 1602/16730)...	-	Apr 26, 2021 (155)
87	14KJPN Submission ignored due to conflicting rows: Row 90074430 (NC_000012.12:54519429::T 19911/27088) Row 90074431 (NC_000012.12:54519429::TTTT 30/27088) Row 90074432 (NC_000012.12:54519429::TT 1446/27088)...	-	Oct 13, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 90074430 (NC_000012.12:54519429::T 19911/27088) Row 90074431 (NC_000012.12:54519429::TTTT 30/27088) Row 90074432 (NC_000012.12:54519429::TT 1446/27088)...	-	Oct 13, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 90074430 (NC_000012.12:54519429::T 19911/27088) Row 90074431 (NC_000012.12:54519429::TTTT 30/27088) Row 90074432 (NC_000012.12:54519429::TT 1446/27088)...	-	Oct 13, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 90074430 (NC_000012.12:54519429::T 19911/27088) Row 90074431 (NC_000012.12:54519429::TTTT 30/27088) Row 90074432 (NC_000012.12:54519429::TT 1446/27088)...	-	Oct 13, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 90074430 (NC_000012.12:54519429::T 19911/27088) Row 90074431 (NC_000012.12:54519429::TTTT 30/27088) Row 90074432 (NC_000012.12:54519429::TT 1446/27088)...	-	Oct 13, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 90074430 (NC_000012.12:54519429::T 19911/27088) Row 90074431 (NC_000012.12:54519429::TTTT 30/27088) Row 90074432 (NC_000012.12:54519429::TT 1446/27088)...	-	Oct 13, 2022 (156)
93	ALFA	NC_000012.12 - 54519430	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)
rs34184628	May 11, 2012 (137)
rs71444853	May 11, 2012 (137)
rs71925306	May 11, 2012 (137)
rs72059286	May 11, 2012 (137)
rs147305388	May 11, 2012 (137)
rs74261952	Oct 14, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4252157640	NC_000012.12:54519429:TTTTTTTTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4252157639	NC_000012.12:54519429:TTTTTTTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4252157638	NC_000012.12:54519429:TTTTTTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3009721876	NC_000012.11:54913213:TTTTTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4252157637	NC_000012.12:54519429:TTTTTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4252157636	NC_000012.12:54519429:TTTTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4252157635	NC_000012.12:54519429:TTTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4252157634	NC_000012.12:54519429:TTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss103532546	NT_029419.12:17056537:TTT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4252157633	NC_000012.12:54519429:TT:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss80360122	NC_000012.9:53199500:T:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3693710480, ss4252157632, ss5290880416, ss5485625428	NC_000012.12:54519429:T:	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss294753280	NC_000012.10:53199481::T	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
57846755, ss666570406, ss1372192506, ss5206416516	NC_000012.11:54913213::T	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3649842218, ss3815833058, ss4252157621, ss5290880415, ss5485625425, ss5756237326	NC_000012.12:54519429::T	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3693710481	NC_000012.12:54519430::T	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss97271652	NT_029419.12:17056520::T	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss40102243, ss95597221	NT_029419.12:17056540::T	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss1536727796, ss3833133459, ss5206416517, ss5623957954, ss5800177852	NC_000012.11:54913213::TT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3845622995, ss4252157622, ss5290880417, ss5485625426, ss5756237328	NC_000012.12:54519429::TT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3693710482	NC_000012.12:54519430::TT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5206416520	NC_000012.11:54913213::TTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157623, ss5290880418, ss5485625427, ss5756237330	NC_000012.12:54519429::TTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3693710483	NC_000012.12:54519430::TTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5206416519	NC_000012.11:54913213::TTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157624, ss5485625429, ss5756237327	NC_000012.12:54519429::TTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5206416518	NC_000012.11:54913213::TTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157625, ss5756237329	NC_000012.12:54519429::TTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5206416521	NC_000012.11:54913213::TTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157626, ss5756237331	NC_000012.12:54519429::TTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157627	NC_000012.12:54519429::TTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157628	NC_000012.12:54519429::TTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157629	NC_000012.12:54519429::TTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7669344170	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252157630	NC_000012.12:54519429::TTTTTTTTTTT… NC_000012.12:54519429::TTTTTTTTTTTTTTT	NC_000012.12:54519429:TTTTTTTTTTTT… NC_000012.12:54519429:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs10686138

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

rs10686138