Name: rs1554010277
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.

rs1554010277

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:36952054-36952073 (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(GC)₈ / del(GC)₇ / del(GC)₆ / d…
del(GC)₈ / del(GC)₇ / del(GC)₆ / del(GC)₅ / del(GC)₄ / del(GC)₃ / delGCGC / delGC / dupGC / dupGCGC / dup(GC)₃ / dup(GC)₄ / dup(GC)₅ / dup(GC)₆ / dup(GC)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(GC)₈=0.0000 (0/6854, ALFA)
del(GC)₇=0.0000 (0/6854, ALFA)
del(GC)₆=0.0000 (0/6854, ALFA) (+ 12 more)
del(GC)₅=0.0000 (0/6854, ALFA)
del(GC)₄=0.0000 (0/6854, ALFA)
del(GC)₃=0.0000 (0/6854, ALFA)
delGCGC=0.0000 (0/6854, ALFA)
delGC=0.0000 (0/6854, ALFA)
dupGC=0.0000 (0/6854, ALFA)
dupGCGC=0.0000 (0/6854, ALFA)
dup(GC)₃=0.0000 (0/6854, ALFA)
dup(GC)₄=0.0000 (0/6854, ALFA)
dup(GC)₅=0.0000 (0/6854, ALFA)
dup(GC)₆=0.0000 (0/6854, ALFA)
dup(GC)₇=0.0000 (0/6854, ALFA)

Clinical Significance: Reported in ClinVar
Gene : Consequence: NIPBL : 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	HWEP
Total	Global	6854	GCGCGCGCGCGCGCGCGCGC=1.0000	GCGC=0.0000, GCGCGC=0.0000, GCGCGCGC=0.0000, GCGCGCGCGC=0.0000, GCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000	1.0	N/A
European	Sub	4224	GCGCGCGCGCGCGCGCGCGC=1.0000	GCGC=0.0000, GCGCGC=0.0000, GCGCGCGC=0.0000, GCGCGCGCGC=0.0000, GCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000	1.0	N/A
African	Sub	1852	GCGCGCGCGCGCGCGCGCGC=1.0000	GCGC=0.0000, GCGCGC=0.0000, GCGCGCGC=0.0000, GCGCGCGCGC=0.0000, GCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000	1.0	N/A
African Others	Sub	76	GCGCGCGCGCGCGCGCGCGC=1.00	GCGC=0.00, GCGCGC=0.00, GCGCGCGC=0.00, GCGCGCGCGC=0.00, GCGCGCGCGCGC=0.00, GCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	N/A
African American	Sub	1776	GCGCGCGCGCGCGCGCGCGC=1.0000	GCGC=0.0000, GCGCGC=0.0000, GCGCGCGC=0.0000, GCGCGCGCGC=0.0000, GCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000	1.0	N/A
Asian	Sub	78	GCGCGCGCGCGCGCGCGCGC=1.00	GCGC=0.00, GCGCGC=0.00, GCGCGCGC=0.00, GCGCGCGCGC=0.00, GCGCGCGCGCGC=0.00, GCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	N/A
East Asian	Sub	62	GCGCGCGCGCGCGCGCGCGC=1.00	GCGC=0.00, GCGCGC=0.00, GCGCGCGC=0.00, GCGCGCGCGC=0.00, GCGCGCGCGCGC=0.00, GCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	N/A
Other Asian	Sub	16	GCGCGCGCGCGCGCGCGCGC=1.00	GCGC=0.00, GCGCGC=0.00, GCGCGCGC=0.00, GCGCGCGCGC=0.00, GCGCGCGCGCGC=0.00, GCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	N/A
Latin American 1	Sub	88	GCGCGCGCGCGCGCGCGCGC=1.00	GCGC=0.00, GCGCGC=0.00, GCGCGCGC=0.00, GCGCGCGCGC=0.00, GCGCGCGCGCGC=0.00, GCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	N/A
Latin American 2	Sub	248	GCGCGCGCGCGCGCGCGCGC=1.000	GCGC=0.000, GCGCGC=0.000, GCGCGCGC=0.000, GCGCGCGCGC=0.000, GCGCGCGCGCGC=0.000, GCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000	1.0	N/A
South Asian	Sub	66	GCGCGCGCGCGCGCGCGCGC=1.00	GCGC=0.00, GCGCGC=0.00, GCGCGCGC=0.00, GCGCGCGCGC=0.00, GCGCGCGCGCGC=0.00, GCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	N/A
Other	Sub	298	GCGCGCGCGCGCGCGCGCGC=1.000	GCGC=0.000, GCGCGC=0.000, GCGCGCGC=0.000, GCGCGCGCGC=0.000, GCGCGCGCGCGC=0.000, GCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000	1.0	N/A

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	6854	(GC)₁₀=1.0000	del(GC)₈=0.0000, del(GC)₇=0.0000, del(GC)₆=0.0000, del(GC)₅=0.0000, del(GC)₄=0.0000, del(GC)₃=0.0000, delGCGC=0.0000, delGC=0.0000, dupGC=0.0000, dupGCGC=0.0000, dup(GC)₃=0.0000, dup(GC)₄=0.0000, dup(GC)₅=0.0000, dup(GC)₆=0.0000, dup(GC)₇=0.0000
Allele Frequency Aggregator	European	Sub	4224	(GC)₁₀=1.0000	del(GC)₈=0.0000, del(GC)₇=0.0000, del(GC)₆=0.0000, del(GC)₅=0.0000, del(GC)₄=0.0000, del(GC)₃=0.0000, delGCGC=0.0000, delGC=0.0000, dupGC=0.0000, dupGCGC=0.0000, dup(GC)₃=0.0000, dup(GC)₄=0.0000, dup(GC)₅=0.0000, dup(GC)₆=0.0000, dup(GC)₇=0.0000
Allele Frequency Aggregator	African	Sub	1852	(GC)₁₀=1.0000	del(GC)₈=0.0000, del(GC)₇=0.0000, del(GC)₆=0.0000, del(GC)₅=0.0000, del(GC)₄=0.0000, del(GC)₃=0.0000, delGCGC=0.0000, delGC=0.0000, dupGC=0.0000, dupGCGC=0.0000, dup(GC)₃=0.0000, dup(GC)₄=0.0000, dup(GC)₅=0.0000, dup(GC)₆=0.0000, dup(GC)₇=0.0000
Allele Frequency Aggregator	Other	Sub	298	(GC)₁₀=1.000	del(GC)₈=0.000, del(GC)₇=0.000, del(GC)₆=0.000, del(GC)₅=0.000, del(GC)₄=0.000, del(GC)₃=0.000, delGCGC=0.000, delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)₃=0.000, dup(GC)₄=0.000, dup(GC)₅=0.000, dup(GC)₆=0.000, dup(GC)₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	248	(GC)₁₀=1.000	del(GC)₈=0.000, del(GC)₇=0.000, del(GC)₆=0.000, del(GC)₅=0.000, del(GC)₄=0.000, del(GC)₃=0.000, delGCGC=0.000, delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)₃=0.000, dup(GC)₄=0.000, dup(GC)₅=0.000, dup(GC)₆=0.000, dup(GC)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	88	(GC)₁₀=1.00	del(GC)₈=0.00, del(GC)₇=0.00, del(GC)₆=0.00, del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00, dup(GC)₃=0.00, dup(GC)₄=0.00, dup(GC)₅=0.00, dup(GC)₆=0.00, dup(GC)₇=0.00
Allele Frequency Aggregator	Asian	Sub	78	(GC)₁₀=1.00	del(GC)₈=0.00, del(GC)₇=0.00, del(GC)₆=0.00, del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00, dup(GC)₃=0.00, dup(GC)₄=0.00, dup(GC)₅=0.00, dup(GC)₆=0.00, dup(GC)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	66	(GC)₁₀=1.00	del(GC)₈=0.00, del(GC)₇=0.00, del(GC)₆=0.00, del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00, dup(GC)₃=0.00, dup(GC)₄=0.00, dup(GC)₅=0.00, dup(GC)₆=0.00, dup(GC)₇=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 5	NC_000005.10:g.36952054GC[2]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[3]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[4]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[5]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[6]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[7]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[8]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[9]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[11]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[12]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[13]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[14]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[15]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[16]
GRCh38.p14 chr 5	NC_000005.10:g.36952054GC[17]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[2]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[3]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[4]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[5]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[6]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[7]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[8]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[9]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[11]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[12]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[13]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[14]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[15]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[16]
GRCh37.p13 chr 5	NC_000005.9:g.36952156GC[17]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[2]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[3]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[4]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[5]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[6]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[7]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[8]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[9]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[11]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[12]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[13]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[14]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[15]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[16]
NIPBL RefSeqGene	NG_006987.2:g.80172GC[17]

Gene: NIPBL, NIPBL cohesin loading factor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NIPBL transcript variant B	NM_015384.5:c.-79-1564GC[… NM_015384.5:c.-79-1564GC[2]	N/A	Intron Variant
NIPBL transcript variant A	NM_133433.4:c.-79-1564GC[… NM_133433.4:c.-79-1564GC[2]	N/A	Intron Variant
NIPBL transcript variant X3	XM_005248280.4:c.-79-1564… XM_005248280.4:c.-79-1564GC[2]	N/A	Intron Variant
NIPBL transcript variant X1	XM_006714467.3:c.-79-1564… XM_006714467.3:c.-79-1564GC[2]	N/A	Intron Variant
NIPBL transcript variant X2	XM_006714468.3:c.-79-1564… XM_006714468.3:c.-79-1564GC[2]	N/A	Intron Variant
NIPBL transcript variant X6	XM_011514015.2:c.-79-1564… XM_011514015.2:c.-79-1564GC[2]	N/A	Intron Variant
NIPBL transcript variant X4	XM_017009329.2:c.-79-1564… XM_017009329.2:c.-79-1564GC[2]	N/A	Intron Variant
NIPBL transcript variant X5	XM_005248282.6:c.	N/A	Genic Upstream Transcript 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: del(GC)₄ (allele ID: 1687553 )

ClinVar Accession	Disease Names	Clinical Significance
RCV002263374.1	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	(GC)₁₀=	del(GC)₈	del(GC)₇	del(GC)₆	del(GC)₅	del(GC)₄	del(GC)₃	delGCGC	delGC	dupGC	dupGCGC	dup(GC)₃	dup(GC)₄	dup(GC)₅	dup(GC)₆	dup(GC)₇
GRCh38.p14 chr 5	NC_000005.10:g.36952054_36952073=	NC_000005.10:g.36952054GC[2]	NC_000005.10:g.36952054GC[3]	NC_000005.10:g.36952054GC[4]	NC_000005.10:g.36952054GC[5]	NC_000005.10:g.36952054GC[6]	NC_000005.10:g.36952054GC[7]	NC_000005.10:g.36952054GC[8]	NC_000005.10:g.36952054GC[9]	NC_000005.10:g.36952054GC[11]	NC_000005.10:g.36952054GC[12]	NC_000005.10:g.36952054GC[13]	NC_000005.10:g.36952054GC[14]	NC_000005.10:g.36952054GC[15]	NC_000005.10:g.36952054GC[16]	NC_000005.10:g.36952054GC[17]
GRCh37.p13 chr 5	NC_000005.9:g.36952156_36952175=	NC_000005.9:g.36952156GC[2]	NC_000005.9:g.36952156GC[3]	NC_000005.9:g.36952156GC[4]	NC_000005.9:g.36952156GC[5]	NC_000005.9:g.36952156GC[6]	NC_000005.9:g.36952156GC[7]	NC_000005.9:g.36952156GC[8]	NC_000005.9:g.36952156GC[9]	NC_000005.9:g.36952156GC[11]	NC_000005.9:g.36952156GC[12]	NC_000005.9:g.36952156GC[13]	NC_000005.9:g.36952156GC[14]	NC_000005.9:g.36952156GC[15]	NC_000005.9:g.36952156GC[16]	NC_000005.9:g.36952156GC[17]
NIPBL RefSeqGene	NG_006987.2:g.80172_80191=	NG_006987.2:g.80172GC[2]	NG_006987.2:g.80172GC[3]	NG_006987.2:g.80172GC[4]	NG_006987.2:g.80172GC[5]	NG_006987.2:g.80172GC[6]	NG_006987.2:g.80172GC[7]	NG_006987.2:g.80172GC[8]	NG_006987.2:g.80172GC[9]	NG_006987.2:g.80172GC[11]	NG_006987.2:g.80172GC[12]	NG_006987.2:g.80172GC[13]	NG_006987.2:g.80172GC[14]	NG_006987.2:g.80172GC[15]	NG_006987.2:g.80172GC[16]	NG_006987.2:g.80172GC[17]
NIPBL transcript variant B	NM_015384.4:c.-79-1564=	NM_015384.4:c.-79-1564GC[2]	NM_015384.4:c.-79-1564GC[3]	NM_015384.4:c.-79-1564GC[4]	NM_015384.4:c.-79-1564GC[5]	NM_015384.4:c.-79-1564GC[6]	NM_015384.4:c.-79-1564GC[7]	NM_015384.4:c.-79-1564GC[8]	NM_015384.4:c.-79-1564GC[9]	NM_015384.4:c.-79-1564GC[11]	NM_015384.4:c.-79-1564GC[12]	NM_015384.4:c.-79-1564GC[13]	NM_015384.4:c.-79-1564GC[14]	NM_015384.4:c.-79-1564GC[15]	NM_015384.4:c.-79-1564GC[16]	NM_015384.4:c.-79-1564GC[17]
NIPBL transcript variant B	NM_015384.5:c.-79-1564=	NM_015384.5:c.-79-1564GC[2]	NM_015384.5:c.-79-1564GC[3]	NM_015384.5:c.-79-1564GC[4]	NM_015384.5:c.-79-1564GC[5]	NM_015384.5:c.-79-1564GC[6]	NM_015384.5:c.-79-1564GC[7]	NM_015384.5:c.-79-1564GC[8]	NM_015384.5:c.-79-1564GC[9]	NM_015384.5:c.-79-1564GC[11]	NM_015384.5:c.-79-1564GC[12]	NM_015384.5:c.-79-1564GC[13]	NM_015384.5:c.-79-1564GC[14]	NM_015384.5:c.-79-1564GC[15]	NM_015384.5:c.-79-1564GC[16]	NM_015384.5:c.-79-1564GC[17]
NIPBL transcript variant A	NM_133433.3:c.-79-1564=	NM_133433.3:c.-79-1564GC[2]	NM_133433.3:c.-79-1564GC[3]	NM_133433.3:c.-79-1564GC[4]	NM_133433.3:c.-79-1564GC[5]	NM_133433.3:c.-79-1564GC[6]	NM_133433.3:c.-79-1564GC[7]	NM_133433.3:c.-79-1564GC[8]	NM_133433.3:c.-79-1564GC[9]	NM_133433.3:c.-79-1564GC[11]	NM_133433.3:c.-79-1564GC[12]	NM_133433.3:c.-79-1564GC[13]	NM_133433.3:c.-79-1564GC[14]	NM_133433.3:c.-79-1564GC[15]	NM_133433.3:c.-79-1564GC[16]	NM_133433.3:c.-79-1564GC[17]
NIPBL transcript variant A	NM_133433.4:c.-79-1564=	NM_133433.4:c.-79-1564GC[2]	NM_133433.4:c.-79-1564GC[3]	NM_133433.4:c.-79-1564GC[4]	NM_133433.4:c.-79-1564GC[5]	NM_133433.4:c.-79-1564GC[6]	NM_133433.4:c.-79-1564GC[7]	NM_133433.4:c.-79-1564GC[8]	NM_133433.4:c.-79-1564GC[9]	NM_133433.4:c.-79-1564GC[11]	NM_133433.4:c.-79-1564GC[12]	NM_133433.4:c.-79-1564GC[13]	NM_133433.4:c.-79-1564GC[14]	NM_133433.4:c.-79-1564GC[15]	NM_133433.4:c.-79-1564GC[16]	NM_133433.4:c.-79-1564GC[17]
NIPBL transcript variant X1	XM_005248280.1:c.-79-1564=	XM_005248280.1:c.-79-1564GC[2]	XM_005248280.1:c.-79-1564GC[3]	XM_005248280.1:c.-79-1564GC[4]	XM_005248280.1:c.-79-1564GC[5]	XM_005248280.1:c.-79-1564GC[6]	XM_005248280.1:c.-79-1564GC[7]	XM_005248280.1:c.-79-1564GC[8]	XM_005248280.1:c.-79-1564GC[9]	XM_005248280.1:c.-79-1564GC[11]	XM_005248280.1:c.-79-1564GC[12]	XM_005248280.1:c.-79-1564GC[13]	XM_005248280.1:c.-79-1564GC[14]	XM_005248280.1:c.-79-1564GC[15]	XM_005248280.1:c.-79-1564GC[16]	XM_005248280.1:c.-79-1564GC[17]
NIPBL transcript variant X3	XM_005248280.4:c.-79-1564=	XM_005248280.4:c.-79-1564GC[2]	XM_005248280.4:c.-79-1564GC[3]	XM_005248280.4:c.-79-1564GC[4]	XM_005248280.4:c.-79-1564GC[5]	XM_005248280.4:c.-79-1564GC[6]	XM_005248280.4:c.-79-1564GC[7]	XM_005248280.4:c.-79-1564GC[8]	XM_005248280.4:c.-79-1564GC[9]	XM_005248280.4:c.-79-1564GC[11]	XM_005248280.4:c.-79-1564GC[12]	XM_005248280.4:c.-79-1564GC[13]	XM_005248280.4:c.-79-1564GC[14]	XM_005248280.4:c.-79-1564GC[15]	XM_005248280.4:c.-79-1564GC[16]	XM_005248280.4:c.-79-1564GC[17]
NIPBL transcript variant X1	XM_006714467.3:c.-79-1564=	XM_006714467.3:c.-79-1564GC[2]	XM_006714467.3:c.-79-1564GC[3]	XM_006714467.3:c.-79-1564GC[4]	XM_006714467.3:c.-79-1564GC[5]	XM_006714467.3:c.-79-1564GC[6]	XM_006714467.3:c.-79-1564GC[7]	XM_006714467.3:c.-79-1564GC[8]	XM_006714467.3:c.-79-1564GC[9]	XM_006714467.3:c.-79-1564GC[11]	XM_006714467.3:c.-79-1564GC[12]	XM_006714467.3:c.-79-1564GC[13]	XM_006714467.3:c.-79-1564GC[14]	XM_006714467.3:c.-79-1564GC[15]	XM_006714467.3:c.-79-1564GC[16]	XM_006714467.3:c.-79-1564GC[17]
NIPBL transcript variant X2	XM_006714468.3:c.-79-1564=	XM_006714468.3:c.-79-1564GC[2]	XM_006714468.3:c.-79-1564GC[3]	XM_006714468.3:c.-79-1564GC[4]	XM_006714468.3:c.-79-1564GC[5]	XM_006714468.3:c.-79-1564GC[6]	XM_006714468.3:c.-79-1564GC[7]	XM_006714468.3:c.-79-1564GC[8]	XM_006714468.3:c.-79-1564GC[9]	XM_006714468.3:c.-79-1564GC[11]	XM_006714468.3:c.-79-1564GC[12]	XM_006714468.3:c.-79-1564GC[13]	XM_006714468.3:c.-79-1564GC[14]	XM_006714468.3:c.-79-1564GC[15]	XM_006714468.3:c.-79-1564GC[16]	XM_006714468.3:c.-79-1564GC[17]
NIPBL transcript variant X6	XM_011514015.2:c.-79-1564=	XM_011514015.2:c.-79-1564GC[2]	XM_011514015.2:c.-79-1564GC[3]	XM_011514015.2:c.-79-1564GC[4]	XM_011514015.2:c.-79-1564GC[5]	XM_011514015.2:c.-79-1564GC[6]	XM_011514015.2:c.-79-1564GC[7]	XM_011514015.2:c.-79-1564GC[8]	XM_011514015.2:c.-79-1564GC[9]	XM_011514015.2:c.-79-1564GC[11]	XM_011514015.2:c.-79-1564GC[12]	XM_011514015.2:c.-79-1564GC[13]	XM_011514015.2:c.-79-1564GC[14]	XM_011514015.2:c.-79-1564GC[15]	XM_011514015.2:c.-79-1564GC[16]	XM_011514015.2:c.-79-1564GC[17]
NIPBL transcript variant X4	XM_017009329.2:c.-79-1564=	XM_017009329.2:c.-79-1564GC[2]	XM_017009329.2:c.-79-1564GC[3]	XM_017009329.2:c.-79-1564GC[4]	XM_017009329.2:c.-79-1564GC[5]	XM_017009329.2:c.-79-1564GC[6]	XM_017009329.2:c.-79-1564GC[7]	XM_017009329.2:c.-79-1564GC[8]	XM_017009329.2:c.-79-1564GC[9]	XM_017009329.2:c.-79-1564GC[11]	XM_017009329.2:c.-79-1564GC[12]	XM_017009329.2:c.-79-1564GC[13]	XM_017009329.2:c.-79-1564GC[14]	XM_017009329.2:c.-79-1564GC[15]	XM_017009329.2:c.-79-1564GC[16]	XM_017009329.2:c.-79-1564GC[17]

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#.

25 SubSNP, 18 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77878039	Oct 12, 2018 (152)
2	DDI	ss1536459027	Apr 01, 2015 (144)
3	MCHAISSO	ss3065025293	Jan 10, 2018 (151)
4	EVA_DECODE	ss3714480343	Jul 13, 2019 (153)
5	ACPOP	ss3732262978	Jul 13, 2019 (153)
6	ACPOP	ss3732262979	Jul 13, 2019 (153)
7	PACBIO	ss3785083917	Jul 13, 2019 (153)
8	PACBIO	ss3790494657	Jul 13, 2019 (153)
9	PACBIO	ss3795371090	Jul 13, 2019 (153)
10	EVA	ss3829196193	Apr 26, 2020 (154)
11	GNOMAD	ss4102576249	Apr 26, 2021 (155)
12	GNOMAD	ss4102576250	Apr 26, 2021 (155)
13	GNOMAD	ss4102576251	Apr 26, 2021 (155)
14	GNOMAD	ss4102576253	Apr 26, 2021 (155)
15	GNOMAD	ss4102576254	Apr 26, 2021 (155)
16	GNOMAD	ss4102576255	Apr 26, 2021 (155)
17	GNOMAD	ss4102576348	Apr 26, 2021 (155)
18	GNOMAD	ss4102576349	Apr 26, 2021 (155)
19	GNOMAD	ss4102576350	Apr 26, 2021 (155)
20	GNOMAD	ss4102576351	Apr 26, 2021 (155)
21	GNOMAD	ss4102576352	Apr 26, 2021 (155)
22	GNOMAD	ss4102576353	Apr 26, 2021 (155)
23	GNOMAD	ss4102576354	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5707152002	Oct 17, 2022 (156)
25	TOMMO_GENOMICS	ss5707152004	Oct 17, 2022 (156)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185444633 (NC_000005.10:36952053::GC 1304/105334) Row 185444634 (NC_000005.10:36952053::GCGC 2831/105218) Row 185444635 (NC_000005.10:36952053::GCGCGC 965/105320)...	-	Apr 26, 2021 (155)
39	Northern Sweden Submission ignored due to conflicting rows: Row 5547843 (NC_000005.9:36952155:GCGCGC: 25/586) Row 5547844 (NC_000005.9:36952155:GC: 32/586)	-	Jul 13, 2019 (153)
40	Northern Sweden Submission ignored due to conflicting rows: Row 5547843 (NC_000005.9:36952155:GCGCGC: 25/586) Row 5547844 (NC_000005.9:36952155:GC: 32/586)	-	Jul 13, 2019 (153)
41	14KJPN Submission ignored due to conflicting rows: Row 40989106 (NC_000005.10:36952053::GC 1841/28108) Row 40989108 (NC_000005.10:36952053:GC: 2216/28108)	-	Oct 17, 2022 (156)
42	14KJPN Submission ignored due to conflicting rows: Row 40989106 (NC_000005.10:36952053::GC 1841/28108) Row 40989108 (NC_000005.10:36952053:GC: 2216/28108)	-	Oct 17, 2022 (156)
43	ALFA	NC_000005.10 - 36952054	Apr 26, 2021 (155)
44	ClinVar	RCV002263374.1	Oct 17, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4102576354	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGC	(self)
ss4102576353	NC_000005.10:36952053:GCGCGCGCGCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGC	(self)
ss3785083917, ss3790494657, ss3795371090	NC_000005.9:36952155:GCGCGCGCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGC	(self)
ss4102576352	NC_000005.10:36952053:GCGCGCGCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGC	(self)
ss4102576351	NC_000005.10:36952053:GCGCGCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGC	(self)
RCV002263374.1, 12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGC	(self)
ss3732262978	NC_000005.9:36952155:GCGCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC	(self)
ss4102576350	NC_000005.10:36952053:GCGCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC	(self)
ss4102576349	NC_000005.10:36952053:GCGC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGC	(self)
ss3732262979, ss3829196193	NC_000005.9:36952155:GC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC	(self)
ss3065025293, ss4102576348, ss5707152004	NC_000005.10:36952053:GC:	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC	(self)
ss1536459027	NC_000005.9:36952155::GC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC	(self)
ss4102576249, ss5707152002	NC_000005.10:36952053::GC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC	(self)
ss4102576250	NC_000005.10:36952053::GCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss3714480343	NC_000005.10:36952073::GCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss77878039	NT_006576.16:36942175::GCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4102576251	NC_000005.10:36952053::GCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4102576253	NC_000005.10:36952053::GCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4102576254	NC_000005.10:36952053::GCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4102576255	NC_000005.10:36952053::GCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
12838527432	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000005.10:36952053:GCGCGCGCGCGC… NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(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 rs1554010277

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1554010277