Name: rs60917790
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.

rs60917790

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:18542881-18542900 (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)₁₀ / del(T)₈ / del(T)₇ / del…
del(T)₁₀ / del(T)₈ / del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: (T)₂₀=0.3933 (2027/5154, ALFA)
(T)₂₀=0.1985 (994/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CACNB2 : 3 Prime UTR 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	5154	TTTTTTTTTTTTTTTTTTTT=0.3933	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0797, TTTTTTTTTTTTTTTTTT=0.5217, TTTTTTTTTTTTTTTTTTTTT=0.0023, TTTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.262598	0.380952	0.356449	32
European	Sub	4996	TTTTTTTTTTTTTTTTTTTT=0.3751	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0823, TTTTTTTTTTTTTTTTTT=0.5372, TTTTTTTTTTTTTTTTTTTTT=0.0024, TTTTTTTTTTTTTTTTTTT=0.0030, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.236564	0.394914	0.368522	32
African	Sub	90	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	88	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	30	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	32	TTTTTTTTTTTTTTTTTTTT=0.84	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.16, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	0.75	0.0625	0.1875	1

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	5154	(T)₂₀=0.3933	del(T)₈=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTTT=0.0797, delTT=0.5217, delT=0.0029, dupT=0.0023, dupTT=0.0000
Allele Frequency Aggregator	European	Sub	4996	(T)₂₀=0.3751	del(T)₈=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTTT=0.0823, delTT=0.5372, delT=0.0030, dupT=0.0024, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	90	(T)₂₀=1.00	del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Other	Sub	32	(T)₂₀=0.84	del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.16, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Latin American 2	Sub	30	(T)₂₀=1.00	del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	4	(T)₂₀=1.0	del(T)₈=0.0, del(T)₇=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₂₀=1.0	del(T)₈=0.0, del(T)₇=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0
Allele Frequency Aggregator	Asian	Sub	0	(T)₂₀=0	del(T)₈=0, del(T)₇=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.1985	delTT=0.8015
1000Genomes	African	Sub	1322	(T)₂₀=0.2390	delTT=0.7610
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.0387	delTT=0.9613
1000Genomes	Europe	Sub	1006	(T)₂₀=0.2505	delTT=0.7495
1000Genomes	South Asian	Sub	978	(T)₂₀=0.229	delTT=0.771
1000Genomes	American	Sub	694	(T)₂₀=0.235	delTT=0.765

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 10	NC_000010.11:g.18542891_18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542893_18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542894_18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542896_18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542897_18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542898_18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542899_18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542900del
GRCh38.p14 chr 10	NC_000010.11:g.18542900dup
GRCh38.p14 chr 10	NC_000010.11:g.18542899_18542900dup
GRCh38.p14 chr 10	NC_000010.11:g.18542898_18542900dup
GRCh38.p14 chr 10	NC_000010.11:g.18542896_18542900dup
GRCh37.p13 chr 10	NC_000010.10:g.18831820_18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831822_18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831823_18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831825_18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831826_18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831827_18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831828_18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831829del
GRCh37.p13 chr 10	NC_000010.10:g.18831829dup
GRCh37.p13 chr 10	NC_000010.10:g.18831828_18831829dup
GRCh37.p13 chr 10	NC_000010.10:g.18831827_18831829dup
GRCh37.p13 chr 10	NC_000010.10:g.18831825_18831829dup
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407215_407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407217_407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407218_407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407220_407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407221_407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407222_407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407223_407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407224del
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407224dup
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407223_407224dup
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407222_407224dup
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407220_407224dup

Gene: CACNB2, calcium voltage-gated channel auxiliary subunit beta 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNB2 transcript variant 10	NM_001330060.2:c.3157_3… NM_001330060.2:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 3	NM_201590.3:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 6	NM_201571.4:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 4	NM_201597.3:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 1	NM_000724.4:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 9	NM_001167945.2:c.3157_3… NM_001167945.2:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 2	NM_201596.3:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 5	NM_201593.3:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 7	NM_201570.3:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant 8	NM_201572.4:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant X1	XM_006717502.4:c.3157_3… XM_006717502.4:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant X2	XM_011519659.3:c.3157_3… XM_011519659.3:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant X3	XM_005252588.5:c.3157_3… XM_005252588.5:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant X3	XM_005252591.4:c.3157_3… XM_005252591.4:c.3157_3176=	N/A	3 Prime UTR Variant
CACNB2 transcript variant X4	XM_047425725.1:c.	N/A	Genic Downstream 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.

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)₂₀=	del(T)₁₀	del(T)₈	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅
GRCh38.p14 chr 10	NC_000010.11:g.18542881_18542900=	NC_000010.11:g.18542891_18542900del	NC_000010.11:g.18542893_18542900del	NC_000010.11:g.18542894_18542900del	NC_000010.11:g.18542896_18542900del	NC_000010.11:g.18542897_18542900del	NC_000010.11:g.18542898_18542900del	NC_000010.11:g.18542899_18542900del	NC_000010.11:g.18542900del	NC_000010.11:g.18542900dup	NC_000010.11:g.18542899_18542900dup	NC_000010.11:g.18542898_18542900dup	NC_000010.11:g.18542896_18542900dup
GRCh37.p13 chr 10	NC_000010.10:g.18831810_18831829=	NC_000010.10:g.18831820_18831829del	NC_000010.10:g.18831822_18831829del	NC_000010.10:g.18831823_18831829del	NC_000010.10:g.18831825_18831829del	NC_000010.10:g.18831826_18831829del	NC_000010.10:g.18831827_18831829del	NC_000010.10:g.18831828_18831829del	NC_000010.10:g.18831829del	NC_000010.10:g.18831829dup	NC_000010.10:g.18831828_18831829dup	NC_000010.10:g.18831827_18831829dup	NC_000010.10:g.18831825_18831829dup
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407205_407224=	NG_016195.1:g.407215_407224del	NG_016195.1:g.407217_407224del	NG_016195.1:g.407218_407224del	NG_016195.1:g.407220_407224del	NG_016195.1:g.407221_407224del	NG_016195.1:g.407222_407224del	NG_016195.1:g.407223_407224del	NG_016195.1:g.407224del	NG_016195.1:g.407224dup	NG_016195.1:g.407223_407224dup	NG_016195.1:g.407222_407224dup	NG_016195.1:g.407220_407224dup
CACNB2 transcript variant 6	NM_201571.4:c.3157_3176=	NM_201571.4:c.3167_3176del	NM_201571.4:c.3169_3176del	NM_201571.4:c.3170_3176del	NM_201571.4:c.3172_3176del	NM_201571.4:c.3173_3176del	NM_201571.4:c.3174_3176del	NM_201571.4:c.3175_3176del	NM_201571.4:c.*3176del	NM_201571.4:c.*3176dup	NM_201571.4:c.3175_3176dup	NM_201571.4:c.3174_3176dup	NM_201571.4:c.3172_3176dup
CACNB2 transcript variant 8	NM_201572.4:c.3157_3176=	NM_201572.4:c.3167_3176del	NM_201572.4:c.3169_3176del	NM_201572.4:c.3170_3176del	NM_201572.4:c.3172_3176del	NM_201572.4:c.3173_3176del	NM_201572.4:c.3174_3176del	NM_201572.4:c.3175_3176del	NM_201572.4:c.*3176del	NM_201572.4:c.*3176dup	NM_201572.4:c.3175_3176dup	NM_201572.4:c.3174_3176dup	NM_201572.4:c.3172_3176dup
CACNB2 transcript variant 1	NM_000724.4:c.3157_3176=	NM_000724.4:c.3167_3176del	NM_000724.4:c.3169_3176del	NM_000724.4:c.3170_3176del	NM_000724.4:c.3172_3176del	NM_000724.4:c.3173_3176del	NM_000724.4:c.3174_3176del	NM_000724.4:c.3175_3176del	NM_000724.4:c.*3176del	NM_000724.4:c.*3176dup	NM_000724.4:c.3175_3176dup	NM_000724.4:c.3174_3176dup	NM_000724.4:c.3172_3176dup
CACNB2 transcript variant 2	NM_201596.3:c.3157_3176=	NM_201596.3:c.3167_3176del	NM_201596.3:c.3169_3176del	NM_201596.3:c.3170_3176del	NM_201596.3:c.3172_3176del	NM_201596.3:c.3173_3176del	NM_201596.3:c.3174_3176del	NM_201596.3:c.3175_3176del	NM_201596.3:c.*3176del	NM_201596.3:c.*3176dup	NM_201596.3:c.3175_3176dup	NM_201596.3:c.3174_3176dup	NM_201596.3:c.3172_3176dup
CACNB2 transcript variant 7	NM_201570.3:c.3157_3176=	NM_201570.3:c.3167_3176del	NM_201570.3:c.3169_3176del	NM_201570.3:c.3170_3176del	NM_201570.3:c.3172_3176del	NM_201570.3:c.3173_3176del	NM_201570.3:c.3174_3176del	NM_201570.3:c.3175_3176del	NM_201570.3:c.*3176del	NM_201570.3:c.*3176dup	NM_201570.3:c.3175_3176dup	NM_201570.3:c.3174_3176dup	NM_201570.3:c.3172_3176dup
CACNB2 transcript variant 4	NM_201597.3:c.3157_3176=	NM_201597.3:c.3167_3176del	NM_201597.3:c.3169_3176del	NM_201597.3:c.3170_3176del	NM_201597.3:c.3172_3176del	NM_201597.3:c.3173_3176del	NM_201597.3:c.3174_3176del	NM_201597.3:c.3175_3176del	NM_201597.3:c.*3176del	NM_201597.3:c.*3176dup	NM_201597.3:c.3175_3176dup	NM_201597.3:c.3174_3176dup	NM_201597.3:c.3172_3176dup
CACNB2 transcript variant 5	NM_201593.3:c.3157_3176=	NM_201593.3:c.3167_3176del	NM_201593.3:c.3169_3176del	NM_201593.3:c.3170_3176del	NM_201593.3:c.3172_3176del	NM_201593.3:c.3173_3176del	NM_201593.3:c.3174_3176del	NM_201593.3:c.3175_3176del	NM_201593.3:c.*3176del	NM_201593.3:c.*3176dup	NM_201593.3:c.3175_3176dup	NM_201593.3:c.3174_3176dup	NM_201593.3:c.3172_3176dup
CACNB2 transcript variant 3	NM_201590.3:c.3157_3176=	NM_201590.3:c.3167_3176del	NM_201590.3:c.3169_3176del	NM_201590.3:c.3170_3176del	NM_201590.3:c.3172_3176del	NM_201590.3:c.3173_3176del	NM_201590.3:c.3174_3176del	NM_201590.3:c.3175_3176del	NM_201590.3:c.*3176del	NM_201590.3:c.*3176dup	NM_201590.3:c.3175_3176dup	NM_201590.3:c.3174_3176dup	NM_201590.3:c.3172_3176dup
CACNB2 transcript variant 9	NM_001167945.2:c.3157_3176=	NM_001167945.2:c.3167_3176del	NM_001167945.2:c.3169_3176del	NM_001167945.2:c.3170_3176del	NM_001167945.2:c.3172_3176del	NM_001167945.2:c.3173_3176del	NM_001167945.2:c.3174_3176del	NM_001167945.2:c.3175_3176del	NM_001167945.2:c.*3176del	NM_001167945.2:c.*3176dup	NM_001167945.2:c.3175_3176dup	NM_001167945.2:c.3174_3176dup	NM_001167945.2:c.3172_3176dup
CACNB2 transcript variant 10	NM_001330060.2:c.3157_3176=	NM_001330060.2:c.3167_3176del	NM_001330060.2:c.3169_3176del	NM_001330060.2:c.3170_3176del	NM_001330060.2:c.3172_3176del	NM_001330060.2:c.3173_3176del	NM_001330060.2:c.3174_3176del	NM_001330060.2:c.3175_3176del	NM_001330060.2:c.*3176del	NM_001330060.2:c.*3176dup	NM_001330060.2:c.3175_3176dup	NM_001330060.2:c.3174_3176dup	NM_001330060.2:c.3172_3176dup
CACNB2 transcript variant 11	NM_001410882.1:c.3157_3176=	NM_001410882.1:c.3167_3176del	NM_001410882.1:c.3169_3176del	NM_001410882.1:c.3170_3176del	NM_001410882.1:c.3172_3176del	NM_001410882.1:c.3173_3176del	NM_001410882.1:c.3174_3176del	NM_001410882.1:c.3175_3176del	NM_001410882.1:c.*3176del	NM_001410882.1:c.*3176dup	NM_001410882.1:c.3175_3176dup	NM_001410882.1:c.3174_3176dup	NM_001410882.1:c.3172_3176dup
CACNB2 transcript variant X3	XM_005252588.5:c.3157_3176=	XM_005252588.5:c.3167_3176del	XM_005252588.5:c.3169_3176del	XM_005252588.5:c.3170_3176del	XM_005252588.5:c.3172_3176del	XM_005252588.5:c.3173_3176del	XM_005252588.5:c.3174_3176del	XM_005252588.5:c.3175_3176del	XM_005252588.5:c.*3176del	XM_005252588.5:c.*3176dup	XM_005252588.5:c.3175_3176dup	XM_005252588.5:c.3174_3176dup	XM_005252588.5:c.3172_3176dup
CACNB2 transcript variant X1	XM_006717502.4:c.3157_3176=	XM_006717502.4:c.3167_3176del	XM_006717502.4:c.3169_3176del	XM_006717502.4:c.3170_3176del	XM_006717502.4:c.3172_3176del	XM_006717502.4:c.3173_3176del	XM_006717502.4:c.3174_3176del	XM_006717502.4:c.3175_3176del	XM_006717502.4:c.*3176del	XM_006717502.4:c.*3176dup	XM_006717502.4:c.3175_3176dup	XM_006717502.4:c.3174_3176dup	XM_006717502.4:c.3172_3176dup
CACNB2 transcript variant X1	XM_006717502.3:c.3157_3176=	XM_006717502.3:c.3167_3176del	XM_006717502.3:c.3169_3176del	XM_006717502.3:c.3170_3176del	XM_006717502.3:c.3172_3176del	XM_006717502.3:c.3173_3176del	XM_006717502.3:c.3174_3176del	XM_006717502.3:c.3175_3176del	XM_006717502.3:c.*3176del	XM_006717502.3:c.*3176dup	XM_006717502.3:c.3175_3176dup	XM_006717502.3:c.3174_3176dup	XM_006717502.3:c.3172_3176dup
CACNB2 transcript variant X3	XM_005252591.4:c.3157_3176=	XM_005252591.4:c.3167_3176del	XM_005252591.4:c.3169_3176del	XM_005252591.4:c.3170_3176del	XM_005252591.4:c.3172_3176del	XM_005252591.4:c.3173_3176del	XM_005252591.4:c.3174_3176del	XM_005252591.4:c.3175_3176del	XM_005252591.4:c.*3176del	XM_005252591.4:c.*3176dup	XM_005252591.4:c.3175_3176dup	XM_005252591.4:c.3174_3176dup	XM_005252591.4:c.3172_3176dup
CACNB2 transcript variant X5	XM_005252591.3:c.3157_3176=	XM_005252591.3:c.3167_3176del	XM_005252591.3:c.3169_3176del	XM_005252591.3:c.3170_3176del	XM_005252591.3:c.3172_3176del	XM_005252591.3:c.3173_3176del	XM_005252591.3:c.3174_3176del	XM_005252591.3:c.3175_3176del	XM_005252591.3:c.*3176del	XM_005252591.3:c.*3176dup	XM_005252591.3:c.3175_3176dup	XM_005252591.3:c.3174_3176dup	XM_005252591.3:c.3172_3176dup
CACNB2 transcript variant X2	XM_011519659.3:c.3157_3176=	XM_011519659.3:c.3167_3176del	XM_011519659.3:c.3169_3176del	XM_011519659.3:c.3170_3176del	XM_011519659.3:c.3172_3176del	XM_011519659.3:c.3173_3176del	XM_011519659.3:c.3174_3176del	XM_011519659.3:c.3175_3176del	XM_011519659.3:c.*3176del	XM_011519659.3:c.*3176dup	XM_011519659.3:c.3175_3176dup	XM_011519659.3:c.3174_3176dup	XM_011519659.3:c.3172_3176dup
CACNB2 transcript variant X2	XM_011519659.2:c.3157_3176=	XM_011519659.2:c.3167_3176del	XM_011519659.2:c.3169_3176del	XM_011519659.2:c.3170_3176del	XM_011519659.2:c.3172_3176del	XM_011519659.2:c.3173_3176del	XM_011519659.2:c.3174_3176del	XM_011519659.2:c.3175_3176del	XM_011519659.2:c.*3176del	XM_011519659.2:c.*3176dup	XM_011519659.2:c.3175_3176dup	XM_011519659.2:c.3174_3176dup	XM_011519659.2:c.3172_3176dup

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#.

63 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81106392	Dec 15, 2007 (129)
2	HUMANGENOME_JCVI	ss95534821	Feb 06, 2009 (130)
3	BCMHGSC_JDW	ss103505392	Mar 15, 2016 (147)
4	GMI	ss289000417	May 04, 2012 (144)
5	PJP	ss294645420	May 09, 2011 (144)
6	PJP	ss294645421	May 09, 2011 (144)
7	1000GENOMES	ss1369195250	Aug 21, 2014 (144)
8	EVA_UK10K_ALSPAC	ss1706659489	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1706659527	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710456859	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710456861	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1710456922	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1710456923	Apr 01, 2015 (144)
14	SWEGEN	ss3006039835	Nov 08, 2017 (151)
15	MCHAISSO	ss3063643262	Nov 08, 2017 (151)
16	MCHAISSO	ss3064463015	Nov 08, 2017 (151)
17	MCHAISSO	ss3065370531	Nov 08, 2017 (151)
18	EVA_DECODE	ss3689408954	Jul 13, 2019 (153)
19	EVA_DECODE	ss3689408955	Jul 13, 2019 (153)
20	EVA_DECODE	ss3689408956	Jul 13, 2019 (153)
21	EVA_DECODE	ss3689408957	Jul 13, 2019 (153)
22	EVA_DECODE	ss3689408958	Jul 13, 2019 (153)
23	ACPOP	ss3737118339	Jul 13, 2019 (153)
24	ACPOP	ss3737118340	Jul 13, 2019 (153)
25	PACBIO	ss3791791603	Jul 13, 2019 (153)
26	PACBIO	ss3796673516	Jul 13, 2019 (153)
27	KHV_HUMAN_GENOMES	ss3813186578	Jul 13, 2019 (153)
28	EVA	ss3839533329	Apr 26, 2020 (154)
29	EVA	ss3845000241	Apr 26, 2020 (154)
30	GNOMAD	ss4213983834	Apr 26, 2021 (155)
31	GNOMAD	ss4213983835	Apr 26, 2021 (155)
32	GNOMAD	ss4213983836	Apr 26, 2021 (155)
33	GNOMAD	ss4213983837	Apr 26, 2021 (155)
34	GNOMAD	ss4213983838	Apr 26, 2021 (155)
35	GNOMAD	ss4213983839	Apr 26, 2021 (155)
36	GNOMAD	ss4213983840	Apr 26, 2021 (155)
37	GNOMAD	ss4213983841	Apr 26, 2021 (155)
38	GNOMAD	ss4213983842	Apr 26, 2021 (155)
39	GNOMAD	ss4213983843	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5196543111	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5196543112	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5196543113	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5196543114	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5196543115	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5283142039	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5283142040	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5283142041	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5283142042	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5283142043	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5283142044	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5478897827	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5478897828	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5478897829	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5478897830	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5478897831	Oct 16, 2022 (156)
56	EVA	ss5509922030	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5741473194	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5741473195	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5741473196	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5741473197	Oct 16, 2022 (156)
61	EVA	ss5824064482	Oct 16, 2022 (156)
62	EVA	ss5824064483	Oct 16, 2022 (156)
63	EVA	ss5824064484	Oct 16, 2022 (156)
64	1000Genomes	NC_000010.10 - 18831810	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 27160429 (NC_000010.10:18831810:TT: 962/3854) Row 27160431 (NC_000010.10:18831809:TTTT: 260/3854)	-	Oct 12, 2018 (152)
66	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 27160429 (NC_000010.10:18831810:TT: 962/3854) Row 27160431 (NC_000010.10:18831809:TTTT: 260/3854)	-	Oct 12, 2018 (152)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345177546 (NC_000010.11:18542880::T 1165/113898) Row 345177547 (NC_000010.11:18542880::TT 11/113908) Row 345177548 (NC_000010.11:18542880::TTT 1/113914)...	-	Apr 26, 2021 (155)
78	Northern Sweden Submission ignored due to conflicting rows: Row 10403204 (NC_000010.10:18831809:TTT: 50/598) Row 10403205 (NC_000010.10:18831809:TT: 288/598)	-	Jul 13, 2019 (153)
79	Northern Sweden Submission ignored due to conflicting rows: Row 10403204 (NC_000010.10:18831809:TTT: 50/598) Row 10403205 (NC_000010.10:18831809:TT: 288/598)	-	Jul 13, 2019 (153)
80	8.3KJPN Submission ignored due to conflicting rows: Row 54512418 (NC_000010.10:18831809:TT: 16085/16756) Row 54512419 (NC_000010.10:18831809:TTT: 114/16756) Row 54512420 (NC_000010.10:18831809::T 142/16756)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 54512418 (NC_000010.10:18831809:TT: 16085/16756) Row 54512419 (NC_000010.10:18831809:TTT: 114/16756) Row 54512420 (NC_000010.10:18831809::T 142/16756)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 54512418 (NC_000010.10:18831809:TT: 16085/16756) Row 54512419 (NC_000010.10:18831809:TTT: 114/16756) Row 54512420 (NC_000010.10:18831809::T 142/16756)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 54512418 (NC_000010.10:18831809:TT: 16085/16756) Row 54512419 (NC_000010.10:18831809:TTT: 114/16756) Row 54512420 (NC_000010.10:18831809::T 142/16756)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 54512418 (NC_000010.10:18831809:TT: 16085/16756) Row 54512419 (NC_000010.10:18831809:TTT: 114/16756) Row 54512420 (NC_000010.10:18831809::T 142/16756)...	-	Apr 26, 2021 (155)
85	14KJPN Submission ignored due to conflicting rows: Row 75310298 (NC_000010.11:18542880:TT: 26898/28130) Row 75310299 (NC_000010.11:18542880:TTT: 175/28130) Row 75310300 (NC_000010.11:18542880::T 234/28130)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 75310298 (NC_000010.11:18542880:TT: 26898/28130) Row 75310299 (NC_000010.11:18542880:TTT: 175/28130) Row 75310300 (NC_000010.11:18542880::T 234/28130)...	-	Oct 16, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 75310298 (NC_000010.11:18542880:TT: 26898/28130) Row 75310299 (NC_000010.11:18542880:TTT: 175/28130) Row 75310300 (NC_000010.11:18542880::T 234/28130)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 75310298 (NC_000010.11:18542880:TT: 26898/28130) Row 75310299 (NC_000010.11:18542880:TTT: 175/28130) Row 75310300 (NC_000010.11:18542880::T 234/28130)...	-	Oct 16, 2022 (156)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 27160429 (NC_000010.10:18831810:TT: 1043/3708) Row 27160431 (NC_000010.10:18831809:TTTT: 239/3708)	-	Oct 12, 2018 (152)
90	UK 10K study - Twins Submission ignored due to conflicting rows: Row 27160429 (NC_000010.10:18831810:TTT: 1043/3708) Row 27160430 (NC_000010.10:18831811:TT: 2417/3708) Row 27160431 (NC_000010.10:18831809:TTTT: 239/3708)	-	Apr 26, 2020 (154)
91	UK 10K study - Twins Submission ignored due to conflicting rows: Row 27160429 (NC_000010.10:18831810:TT: 1043/3708) Row 27160431 (NC_000010.10:18831809:TTTT: 239/3708)	-	Oct 12, 2018 (152)
92	ALFA	NC_000010.11 - 18542881	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)
rs79892401	Oct 26, 2010 (133)
rs139056140	Jul 01, 2015 (144)
rs147767804	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5283142044	NC_000010.11:18542880:TTTTTTTTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT
ss5196543115	NC_000010.10:18831809:TTTTTTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4213983843	NC_000010.11:18542880:TTTTTTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4213983842	NC_000010.11:18542880:TTTTTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4213983841	NC_000010.11:18542880:TTTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss1706659489, ss1706659527, ss5824064484	NC_000010.10:18831809:TTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3689408954, ss4213983840, ss5283142043, ss5478897831	NC_000010.11:18542880:TTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss103505392	NT_008705.16:18771825:TTTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3006039835, ss3737118339, ss5196543112, ss5824064483	NC_000010.10:18831809:TTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1710456859, ss1710456922	NC_000010.10:18831810:TTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4213983839, ss5283142042, ss5478897827, ss5741473195	NC_000010.11:18542880:TTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3689408955	NC_000010.11:18542881:TTT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss81106392	NC_000010.8:18871833:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss289000417, ss294645420	NC_000010.9:18871815:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss294645421	NC_000010.9:18871833:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
48876918, ss1369195250, ss3737118340, ss3791791603, ss3796673516, ss3839533329, ss5196543111, ss5509922030, ss5824064482	NC_000010.10:18831809:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
	NC_000010.10:18831810:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1710456861, ss1710456923	NC_000010.10:18831811:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3063643262, ss3064463015, ss3065370531, ss3813186578, ss3845000241, ss4213983838, ss5283142039, ss5478897828, ss5741473194	NC_000010.11:18542880:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3689408956	NC_000010.11:18542882:TT:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5196543114	NC_000010.10:18831809:T:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5283142040, ss5478897829, ss5741473197	NC_000010.11:18542880:T:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3689408957	NC_000010.11:18542883:T:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss95534821	NT_008705.16:18771828:T:	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5196543113	NC_000010.10:18831809::T	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4213983834, ss5283142041, ss5478897830, ss5741473196	NC_000010.11:18542880::T	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3689408958	NC_000010.11:18542884::T	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss95534821	NT_008705.16:18771828:T:TT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4213983835	NC_000010.11:18542880::TT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
12254167418	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4213983836	NC_000010.11:18542880::TTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4213983837	NC_000010.11:18542880::TTTTT	NC_000010.11:18542880:TTTTTTTTTTTT… NC_000010.11:18542880:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs60917790

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

Placement	(T)₂₀=	del(T)₁₀	del(T)₈	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅
GRCh38.p14 chr 10	NC_000010.11:g.18542881_18542900=	NC_000010.11:g.18542891_18542900del	NC_000010.11:g.18542893_18542900del	NC_000010.11:g.18542894_18542900del	NC_000010.11:g.18542896_18542900del	NC_000010.11:g.18542897_18542900del	NC_000010.11:g.18542898_18542900del	NC_000010.11:g.18542899_18542900del	NC_000010.11:g.18542900del	NC_000010.11:g.18542900dup	NC_000010.11:g.18542899_18542900dup	NC_000010.11:g.18542898_18542900dup	NC_000010.11:g.18542896_18542900dup
GRCh37.p13 chr 10	NC_000010.10:g.18831810_18831829=	NC_000010.10:g.18831820_18831829del	NC_000010.10:g.18831822_18831829del	NC_000010.10:g.18831823_18831829del	NC_000010.10:g.18831825_18831829del	NC_000010.10:g.18831826_18831829del	NC_000010.10:g.18831827_18831829del	NC_000010.10:g.18831828_18831829del	NC_000010.10:g.18831829del	NC_000010.10:g.18831829dup	NC_000010.10:g.18831828_18831829dup	NC_000010.10:g.18831827_18831829dup	NC_000010.10:g.18831825_18831829dup
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.407205_407224=	NG_016195.1:g.407215_407224del	NG_016195.1:g.407217_407224del	NG_016195.1:g.407218_407224del	NG_016195.1:g.407220_407224del	NG_016195.1:g.407221_407224del	NG_016195.1:g.407222_407224del	NG_016195.1:g.407223_407224del	NG_016195.1:g.407224del	NG_016195.1:g.407224dup	NG_016195.1:g.407223_407224dup	NG_016195.1:g.407222_407224dup	NG_016195.1:g.407220_407224dup
CACNB2 transcript variant 6	NM_201571.4:c.3157_3176=	NM_201571.4:c.3167_3176del	NM_201571.4:c.3169_3176del	NM_201571.4:c.3170_3176del	NM_201571.4:c.3172_3176del	NM_201571.4:c.3173_3176del	NM_201571.4:c.3174_3176del	NM_201571.4:c.3175_3176del	NM_201571.4:c.*3176del	NM_201571.4:c.*3176dup	NM_201571.4:c.3175_3176dup	NM_201571.4:c.3174_3176dup	NM_201571.4:c.3172_3176dup
CACNB2 transcript variant 8	NM_201572.4:c.3157_3176=	NM_201572.4:c.3167_3176del	NM_201572.4:c.3169_3176del	NM_201572.4:c.3170_3176del	NM_201572.4:c.3172_3176del	NM_201572.4:c.3173_3176del	NM_201572.4:c.3174_3176del	NM_201572.4:c.3175_3176del	NM_201572.4:c.*3176del	NM_201572.4:c.*3176dup	NM_201572.4:c.3175_3176dup	NM_201572.4:c.3174_3176dup	NM_201572.4:c.3172_3176dup
CACNB2 transcript variant 1	NM_000724.4:c.3157_3176=	NM_000724.4:c.3167_3176del	NM_000724.4:c.3169_3176del	NM_000724.4:c.3170_3176del	NM_000724.4:c.3172_3176del	NM_000724.4:c.3173_3176del	NM_000724.4:c.3174_3176del	NM_000724.4:c.3175_3176del	NM_000724.4:c.*3176del	NM_000724.4:c.*3176dup	NM_000724.4:c.3175_3176dup	NM_000724.4:c.3174_3176dup	NM_000724.4:c.3172_3176dup
CACNB2 transcript variant 2	NM_201596.3:c.3157_3176=	NM_201596.3:c.3167_3176del	NM_201596.3:c.3169_3176del	NM_201596.3:c.3170_3176del	NM_201596.3:c.3172_3176del	NM_201596.3:c.3173_3176del	NM_201596.3:c.3174_3176del	NM_201596.3:c.3175_3176del	NM_201596.3:c.*3176del	NM_201596.3:c.*3176dup	NM_201596.3:c.3175_3176dup	NM_201596.3:c.3174_3176dup	NM_201596.3:c.3172_3176dup
CACNB2 transcript variant 7	NM_201570.3:c.3157_3176=	NM_201570.3:c.3167_3176del	NM_201570.3:c.3169_3176del	NM_201570.3:c.3170_3176del	NM_201570.3:c.3172_3176del	NM_201570.3:c.3173_3176del	NM_201570.3:c.3174_3176del	NM_201570.3:c.3175_3176del	NM_201570.3:c.*3176del	NM_201570.3:c.*3176dup	NM_201570.3:c.3175_3176dup	NM_201570.3:c.3174_3176dup	NM_201570.3:c.3172_3176dup
CACNB2 transcript variant 4	NM_201597.3:c.3157_3176=	NM_201597.3:c.3167_3176del	NM_201597.3:c.3169_3176del	NM_201597.3:c.3170_3176del	NM_201597.3:c.3172_3176del	NM_201597.3:c.3173_3176del	NM_201597.3:c.3174_3176del	NM_201597.3:c.3175_3176del	NM_201597.3:c.*3176del	NM_201597.3:c.*3176dup	NM_201597.3:c.3175_3176dup	NM_201597.3:c.3174_3176dup	NM_201597.3:c.3172_3176dup
CACNB2 transcript variant 5	NM_201593.3:c.3157_3176=	NM_201593.3:c.3167_3176del	NM_201593.3:c.3169_3176del	NM_201593.3:c.3170_3176del	NM_201593.3:c.3172_3176del	NM_201593.3:c.3173_3176del	NM_201593.3:c.3174_3176del	NM_201593.3:c.3175_3176del	NM_201593.3:c.*3176del	NM_201593.3:c.*3176dup	NM_201593.3:c.3175_3176dup	NM_201593.3:c.3174_3176dup	NM_201593.3:c.3172_3176dup
CACNB2 transcript variant 3	NM_201590.3:c.3157_3176=	NM_201590.3:c.3167_3176del	NM_201590.3:c.3169_3176del	NM_201590.3:c.3170_3176del	NM_201590.3:c.3172_3176del	NM_201590.3:c.3173_3176del	NM_201590.3:c.3174_3176del	NM_201590.3:c.3175_3176del	NM_201590.3:c.*3176del	NM_201590.3:c.*3176dup	NM_201590.3:c.3175_3176dup	NM_201590.3:c.3174_3176dup	NM_201590.3:c.3172_3176dup
CACNB2 transcript variant 9	NM_001167945.2:c.3157_3176=	NM_001167945.2:c.3167_3176del	NM_001167945.2:c.3169_3176del	NM_001167945.2:c.3170_3176del	NM_001167945.2:c.3172_3176del	NM_001167945.2:c.3173_3176del	NM_001167945.2:c.3174_3176del	NM_001167945.2:c.3175_3176del	NM_001167945.2:c.*3176del	NM_001167945.2:c.*3176dup	NM_001167945.2:c.3175_3176dup	NM_001167945.2:c.3174_3176dup	NM_001167945.2:c.3172_3176dup
CACNB2 transcript variant 10	NM_001330060.2:c.3157_3176=	NM_001330060.2:c.3167_3176del	NM_001330060.2:c.3169_3176del	NM_001330060.2:c.3170_3176del	NM_001330060.2:c.3172_3176del	NM_001330060.2:c.3173_3176del	NM_001330060.2:c.3174_3176del	NM_001330060.2:c.3175_3176del	NM_001330060.2:c.*3176del	NM_001330060.2:c.*3176dup	NM_001330060.2:c.3175_3176dup	NM_001330060.2:c.3174_3176dup	NM_001330060.2:c.3172_3176dup
CACNB2 transcript variant 11	NM_001410882.1:c.3157_3176=	NM_001410882.1:c.3167_3176del	NM_001410882.1:c.3169_3176del	NM_001410882.1:c.3170_3176del	NM_001410882.1:c.3172_3176del	NM_001410882.1:c.3173_3176del	NM_001410882.1:c.3174_3176del	NM_001410882.1:c.3175_3176del	NM_001410882.1:c.*3176del	NM_001410882.1:c.*3176dup	NM_001410882.1:c.3175_3176dup	NM_001410882.1:c.3174_3176dup	NM_001410882.1:c.3172_3176dup
CACNB2 transcript variant X3	XM_005252588.5:c.3157_3176=	XM_005252588.5:c.3167_3176del	XM_005252588.5:c.3169_3176del	XM_005252588.5:c.3170_3176del	XM_005252588.5:c.3172_3176del	XM_005252588.5:c.3173_3176del	XM_005252588.5:c.3174_3176del	XM_005252588.5:c.3175_3176del	XM_005252588.5:c.*3176del	XM_005252588.5:c.*3176dup	XM_005252588.5:c.3175_3176dup	XM_005252588.5:c.3174_3176dup	XM_005252588.5:c.3172_3176dup
CACNB2 transcript variant X1	XM_006717502.4:c.3157_3176=	XM_006717502.4:c.3167_3176del	XM_006717502.4:c.3169_3176del	XM_006717502.4:c.3170_3176del	XM_006717502.4:c.3172_3176del	XM_006717502.4:c.3173_3176del	XM_006717502.4:c.3174_3176del	XM_006717502.4:c.3175_3176del	XM_006717502.4:c.*3176del	XM_006717502.4:c.*3176dup	XM_006717502.4:c.3175_3176dup	XM_006717502.4:c.3174_3176dup	XM_006717502.4:c.3172_3176dup
CACNB2 transcript variant X1	XM_006717502.3:c.3157_3176=	XM_006717502.3:c.3167_3176del	XM_006717502.3:c.3169_3176del	XM_006717502.3:c.3170_3176del	XM_006717502.3:c.3172_3176del	XM_006717502.3:c.3173_3176del	XM_006717502.3:c.3174_3176del	XM_006717502.3:c.3175_3176del	XM_006717502.3:c.*3176del	XM_006717502.3:c.*3176dup	XM_006717502.3:c.3175_3176dup	XM_006717502.3:c.3174_3176dup	XM_006717502.3:c.3172_3176dup
CACNB2 transcript variant X3	XM_005252591.4:c.3157_3176=	XM_005252591.4:c.3167_3176del	XM_005252591.4:c.3169_3176del	XM_005252591.4:c.3170_3176del	XM_005252591.4:c.3172_3176del	XM_005252591.4:c.3173_3176del	XM_005252591.4:c.3174_3176del	XM_005252591.4:c.3175_3176del	XM_005252591.4:c.*3176del	XM_005252591.4:c.*3176dup	XM_005252591.4:c.3175_3176dup	XM_005252591.4:c.3174_3176dup	XM_005252591.4:c.3172_3176dup
CACNB2 transcript variant X5	XM_005252591.3:c.3157_3176=	XM_005252591.3:c.3167_3176del	XM_005252591.3:c.3169_3176del	XM_005252591.3:c.3170_3176del	XM_005252591.3:c.3172_3176del	XM_005252591.3:c.3173_3176del	XM_005252591.3:c.3174_3176del	XM_005252591.3:c.3175_3176del	XM_005252591.3:c.*3176del	XM_005252591.3:c.*3176dup	XM_005252591.3:c.3175_3176dup	XM_005252591.3:c.3174_3176dup	XM_005252591.3:c.3172_3176dup
CACNB2 transcript variant X2	XM_011519659.3:c.3157_3176=	XM_011519659.3:c.3167_3176del	XM_011519659.3:c.3169_3176del	XM_011519659.3:c.3170_3176del	XM_011519659.3:c.3172_3176del	XM_011519659.3:c.3173_3176del	XM_011519659.3:c.3174_3176del	XM_011519659.3:c.3175_3176del	XM_011519659.3:c.*3176del	XM_011519659.3:c.*3176dup	XM_011519659.3:c.3175_3176dup	XM_011519659.3:c.3174_3176dup	XM_011519659.3:c.3172_3176dup
CACNB2 transcript variant X2	XM_011519659.2:c.3157_3176=	XM_011519659.2:c.3167_3176del	XM_011519659.2:c.3169_3176del	XM_011519659.2:c.3170_3176del	XM_011519659.2:c.3172_3176del	XM_011519659.2:c.3173_3176del	XM_011519659.2:c.3174_3176del	XM_011519659.2:c.3175_3176del	XM_011519659.2:c.*3176del	XM_011519659.2:c.*3176dup	XM_011519659.2:c.3175_3176dup	XM_011519659.2:c.3174_3176dup	XM_011519659.2:c.3172_3176dup

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs60917790