Name: rs142233067
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.

rs142233067

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:50564650 (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: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.00004 (1/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN)
A=0.00000 (0/14044, ALFA) (+ 5 more)
T=0.00000 (0/14044, ALFA)
A=0.0006 (4/6404, 1000G_30x)
A=0.0012 (6/5008, 1000G)
C=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CACNA1G : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	14044	C=1.00000	A=0.00000, T=0.00000
European	Sub	9690	C=1.0000	A=0.0000, T=0.0000
African	Sub	2892	C=1.0000	A=0.0000, T=0.0000
African Others	Sub	114	C=1.000	A=0.000, T=0.000
African American	Sub	2778	C=1.0000	A=0.0000, T=0.0000
Asian	Sub	112	C=1.000	A=0.000, T=0.000
East Asian	Sub	86	C=1.00	A=0.00, T=0.00
Other Asian	Sub	26	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	146	C=1.000	A=0.000, T=0.000
Latin American 2	Sub	610	C=1.000	A=0.000, T=0.000
South Asian	Sub	98	C=1.00	A=0.00, T=0.00
Other	Sub	496	C=1.000	A=0.000, T=0.000

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
14KJPN	JAPANESE	Study-wide	28258	C=0.99996	T=0.00004
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99994	T=0.00006
Allele Frequency Aggregator	Total	Global	14044	C=1.00000	A=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	9690	C=1.0000	A=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	2892	C=1.0000	A=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Other	Sub	496	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	A=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.9989	A=0.0006, T=0.0005
1000Genomes_30x	African	Sub	1786	C=0.9972	A=0.0011, T=0.0017
1000Genomes_30x	Europe	Sub	1266	C=0.9984	A=0.0016, T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	A=0.0000, T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	A=0.0000, T=0.0000
1000Genomes_30x	American	Sub	980	C=1.000	A=0.000, T=0.000
1000Genomes	Global	Study-wide	5008	C=0.9978	A=0.0012, T=0.0010
1000Genomes	African	Sub	1322	C=0.9970	A=0.0015, T=0.0015
1000Genomes	East Asian	Sub	1008	C=1.0000	A=0.0000, T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9970	A=0.0030, T=0.0000
1000Genomes	South Asian	Sub	978	C=0.999	A=0.000, T=0.001
1000Genomes	American	Sub	694	C=0.996	A=0.001, T=0.003
SGDP_PRJ	Global	Study-wide	2	C=0.5	A=0.5

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 17	NC_000017.11:g.50564650C>A
GRCh38.p14 chr 17	NC_000017.11:g.50564650C>T
GRCh37.p13 chr 17	NC_000017.10:g.48642011C>A
GRCh37.p13 chr 17	NC_000017.10:g.48642011C>T
CACNA1G RefSeqGene	NG_032024.1:g.8583C>A
CACNA1G RefSeqGene	NG_032024.1:g.8583C>T

Gene: CACNA1G, calcium voltage-gated channel subunit alpha1 G (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNA1G transcript variant 16	NM_001256324.2:c.242+2949… NM_001256324.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 17	NM_001256325.2:c.242+2949… NM_001256325.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 18	NM_001256326.2:c.242+2949… NM_001256326.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 19	NM_001256327.2:c.242+2949… NM_001256327.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 20	NM_001256328.2:c.242+2949… NM_001256328.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 21	NM_001256329.2:c.242+2949… NM_001256329.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 22	NM_001256330.2:c.242+2949… NM_001256330.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 23	NM_001256331.2:c.242+2949… NM_001256331.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 24	NM_001256332.2:c.242+2949… NM_001256332.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 25	NM_001256333.2:c.242+2949… NM_001256333.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 26	NM_001256334.2:c.242+2949… NM_001256334.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 27	NM_001256359.2:c.242+2949… NM_001256359.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 28	NM_001256360.2:c.242+2949… NM_001256360.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 29	NM_001256361.2:c.242+2949… NM_001256361.2:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 1	NM_018896.5:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 14	NM_198376.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 2	NM_198377.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 9	NM_198378.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 7	NM_198379.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 5	NM_198380.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 11	NM_198382.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 6	NM_198383.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 8	NM_198384.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 4	NM_198385.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 10	NM_198386.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 12	NM_198387.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 13	NM_198388.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 3	NM_198396.3:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant 30	NR_046054.2:n.	N/A	Intron Variant
CACNA1G transcript variant 31	NR_046055.2:n.	N/A	Intron Variant
CACNA1G transcript variant 32	NR_046056.2:n.	N/A	Intron Variant
CACNA1G transcript variant 33	NR_046057.2:n.	N/A	Intron Variant
CACNA1G transcript variant 34	NR_046058.2:n.	N/A	Intron Variant
CACNA1G transcript variant X1	XM_006722160.5:c.242+2949… XM_006722160.5:c.242+2949C>A	N/A	Intron Variant
CACNA1G transcript variant X2	XM_006722161.5:c.242+2949… XM_006722161.5:c.242+2949C>A	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	C=	A	T
GRCh38.p14 chr 17	NC_000017.11:g.50564650=	NC_000017.11:g.50564650C>A	NC_000017.11:g.50564650C>T
GRCh37.p13 chr 17	NC_000017.10:g.48642011=	NC_000017.10:g.48642011C>A	NC_000017.10:g.48642011C>T
CACNA1G RefSeqGene	NG_032024.1:g.8583=	NG_032024.1:g.8583C>A	NG_032024.1:g.8583C>T
CACNA1G transcript variant 16	NM_001256324.1:c.242+2949=	NM_001256324.1:c.242+2949C>A	NM_001256324.1:c.242+2949C>T
CACNA1G transcript variant 16	NM_001256324.2:c.242+2949=	NM_001256324.2:c.242+2949C>A	NM_001256324.2:c.242+2949C>T
CACNA1G transcript variant 17	NM_001256325.1:c.242+2949=	NM_001256325.1:c.242+2949C>A	NM_001256325.1:c.242+2949C>T
CACNA1G transcript variant 17	NM_001256325.2:c.242+2949=	NM_001256325.2:c.242+2949C>A	NM_001256325.2:c.242+2949C>T
CACNA1G transcript variant 18	NM_001256326.1:c.242+2949=	NM_001256326.1:c.242+2949C>A	NM_001256326.1:c.242+2949C>T
CACNA1G transcript variant 18	NM_001256326.2:c.242+2949=	NM_001256326.2:c.242+2949C>A	NM_001256326.2:c.242+2949C>T
CACNA1G transcript variant 19	NM_001256327.1:c.242+2949=	NM_001256327.1:c.242+2949C>A	NM_001256327.1:c.242+2949C>T
CACNA1G transcript variant 19	NM_001256327.2:c.242+2949=	NM_001256327.2:c.242+2949C>A	NM_001256327.2:c.242+2949C>T
CACNA1G transcript variant 20	NM_001256328.1:c.242+2949=	NM_001256328.1:c.242+2949C>A	NM_001256328.1:c.242+2949C>T
CACNA1G transcript variant 20	NM_001256328.2:c.242+2949=	NM_001256328.2:c.242+2949C>A	NM_001256328.2:c.242+2949C>T
CACNA1G transcript variant 21	NM_001256329.1:c.242+2949=	NM_001256329.1:c.242+2949C>A	NM_001256329.1:c.242+2949C>T
CACNA1G transcript variant 21	NM_001256329.2:c.242+2949=	NM_001256329.2:c.242+2949C>A	NM_001256329.2:c.242+2949C>T
CACNA1G transcript variant 22	NM_001256330.1:c.242+2949=	NM_001256330.1:c.242+2949C>A	NM_001256330.1:c.242+2949C>T
CACNA1G transcript variant 22	NM_001256330.2:c.242+2949=	NM_001256330.2:c.242+2949C>A	NM_001256330.2:c.242+2949C>T
CACNA1G transcript variant 23	NM_001256331.1:c.242+2949=	NM_001256331.1:c.242+2949C>A	NM_001256331.1:c.242+2949C>T
CACNA1G transcript variant 23	NM_001256331.2:c.242+2949=	NM_001256331.2:c.242+2949C>A	NM_001256331.2:c.242+2949C>T
CACNA1G transcript variant 24	NM_001256332.1:c.242+2949=	NM_001256332.1:c.242+2949C>A	NM_001256332.1:c.242+2949C>T
CACNA1G transcript variant 24	NM_001256332.2:c.242+2949=	NM_001256332.2:c.242+2949C>A	NM_001256332.2:c.242+2949C>T
CACNA1G transcript variant 25	NM_001256333.1:c.242+2949=	NM_001256333.1:c.242+2949C>A	NM_001256333.1:c.242+2949C>T
CACNA1G transcript variant 25	NM_001256333.2:c.242+2949=	NM_001256333.2:c.242+2949C>A	NM_001256333.2:c.242+2949C>T
CACNA1G transcript variant 26	NM_001256334.1:c.242+2949=	NM_001256334.1:c.242+2949C>A	NM_001256334.1:c.242+2949C>T
CACNA1G transcript variant 26	NM_001256334.2:c.242+2949=	NM_001256334.2:c.242+2949C>A	NM_001256334.2:c.242+2949C>T
CACNA1G transcript variant 27	NM_001256359.1:c.242+2949=	NM_001256359.1:c.242+2949C>A	NM_001256359.1:c.242+2949C>T
CACNA1G transcript variant 27	NM_001256359.2:c.242+2949=	NM_001256359.2:c.242+2949C>A	NM_001256359.2:c.242+2949C>T
CACNA1G transcript variant 28	NM_001256360.1:c.242+2949=	NM_001256360.1:c.242+2949C>A	NM_001256360.1:c.242+2949C>T
CACNA1G transcript variant 28	NM_001256360.2:c.242+2949=	NM_001256360.2:c.242+2949C>A	NM_001256360.2:c.242+2949C>T
CACNA1G transcript variant 29	NM_001256361.1:c.242+2949=	NM_001256361.1:c.242+2949C>A	NM_001256361.1:c.242+2949C>T
CACNA1G transcript variant 29	NM_001256361.2:c.242+2949=	NM_001256361.2:c.242+2949C>A	NM_001256361.2:c.242+2949C>T
CACNA1G transcript variant 1	NM_018896.4:c.242+2949=	NM_018896.4:c.242+2949C>A	NM_018896.4:c.242+2949C>T
CACNA1G transcript variant 1	NM_018896.5:c.242+2949=	NM_018896.5:c.242+2949C>A	NM_018896.5:c.242+2949C>T
CACNA1G transcript variant 14	NM_198376.2:c.242+2949=	NM_198376.2:c.242+2949C>A	NM_198376.2:c.242+2949C>T
CACNA1G transcript variant 14	NM_198376.3:c.242+2949=	NM_198376.3:c.242+2949C>A	NM_198376.3:c.242+2949C>T
CACNA1G transcript variant 2	NM_198377.2:c.242+2949=	NM_198377.2:c.242+2949C>A	NM_198377.2:c.242+2949C>T
CACNA1G transcript variant 2	NM_198377.3:c.242+2949=	NM_198377.3:c.242+2949C>A	NM_198377.3:c.242+2949C>T
CACNA1G transcript variant 9	NM_198378.2:c.242+2949=	NM_198378.2:c.242+2949C>A	NM_198378.2:c.242+2949C>T
CACNA1G transcript variant 9	NM_198378.3:c.242+2949=	NM_198378.3:c.242+2949C>A	NM_198378.3:c.242+2949C>T
CACNA1G transcript variant 7	NM_198379.2:c.242+2949=	NM_198379.2:c.242+2949C>A	NM_198379.2:c.242+2949C>T
CACNA1G transcript variant 7	NM_198379.3:c.242+2949=	NM_198379.3:c.242+2949C>A	NM_198379.3:c.242+2949C>T
CACNA1G transcript variant 5	NM_198380.2:c.242+2949=	NM_198380.2:c.242+2949C>A	NM_198380.2:c.242+2949C>T
CACNA1G transcript variant 5	NM_198380.3:c.242+2949=	NM_198380.3:c.242+2949C>A	NM_198380.3:c.242+2949C>T
CACNA1G transcript variant 11	NM_198382.2:c.242+2949=	NM_198382.2:c.242+2949C>A	NM_198382.2:c.242+2949C>T
CACNA1G transcript variant 11	NM_198382.3:c.242+2949=	NM_198382.3:c.242+2949C>A	NM_198382.3:c.242+2949C>T
CACNA1G transcript variant 6	NM_198383.2:c.242+2949=	NM_198383.2:c.242+2949C>A	NM_198383.2:c.242+2949C>T
CACNA1G transcript variant 6	NM_198383.3:c.242+2949=	NM_198383.3:c.242+2949C>A	NM_198383.3:c.242+2949C>T
CACNA1G transcript variant 8	NM_198384.2:c.242+2949=	NM_198384.2:c.242+2949C>A	NM_198384.2:c.242+2949C>T
CACNA1G transcript variant 8	NM_198384.3:c.242+2949=	NM_198384.3:c.242+2949C>A	NM_198384.3:c.242+2949C>T
CACNA1G transcript variant 4	NM_198385.2:c.242+2949=	NM_198385.2:c.242+2949C>A	NM_198385.2:c.242+2949C>T
CACNA1G transcript variant 4	NM_198385.3:c.242+2949=	NM_198385.3:c.242+2949C>A	NM_198385.3:c.242+2949C>T
CACNA1G transcript variant 10	NM_198386.2:c.242+2949=	NM_198386.2:c.242+2949C>A	NM_198386.2:c.242+2949C>T
CACNA1G transcript variant 10	NM_198386.3:c.242+2949=	NM_198386.3:c.242+2949C>A	NM_198386.3:c.242+2949C>T
CACNA1G transcript variant 12	NM_198387.2:c.242+2949=	NM_198387.2:c.242+2949C>A	NM_198387.2:c.242+2949C>T
CACNA1G transcript variant 12	NM_198387.3:c.242+2949=	NM_198387.3:c.242+2949C>A	NM_198387.3:c.242+2949C>T
CACNA1G transcript variant 13	NM_198388.2:c.242+2949=	NM_198388.2:c.242+2949C>A	NM_198388.2:c.242+2949C>T
CACNA1G transcript variant 13	NM_198388.3:c.242+2949=	NM_198388.3:c.242+2949C>A	NM_198388.3:c.242+2949C>T
CACNA1G transcript variant 3	NM_198396.2:c.242+2949=	NM_198396.2:c.242+2949C>A	NM_198396.2:c.242+2949C>T
CACNA1G transcript variant 3	NM_198396.3:c.242+2949=	NM_198396.3:c.242+2949C>A	NM_198396.3:c.242+2949C>T
CACNA1G transcript variant X1	XM_006722160.5:c.242+2949=	XM_006722160.5:c.242+2949C>A	XM_006722160.5:c.242+2949C>T
CACNA1G transcript variant X2	XM_006722161.5:c.242+2949=	XM_006722161.5:c.242+2949C>A	XM_006722161.5:c.242+2949C>T

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#.

16 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss339731713	May 09, 2011 (134)
2	1000GENOMES	ss1358859842	Aug 21, 2014 (142)
3	1000GENOMES	ss1358859843	Aug 21, 2014 (142)
4	HUMAN_LONGEVITY	ss2217242539	Dec 20, 2016 (150)
5	GNOMAD	ss2950497572	Nov 08, 2017 (151)
6	SGDP_PRJ	ss3885861172	Apr 27, 2020 (154)
7	TOPMED	ss5037813517	Apr 26, 2021 (155)
8	TOPMED	ss5037813518	Apr 26, 2021 (155)
9	TOMMO_GENOMICS	ss5222682688	Apr 26, 2021 (155)
10	1000G_HIGH_COVERAGE	ss5303322286	Oct 16, 2022 (156)
11	1000G_HIGH_COVERAGE	ss5303322287	Oct 16, 2022 (156)
12	HUGCELL_USP	ss5496349961	Oct 16, 2022 (156)
13	1000G_HIGH_COVERAGE	ss5607130184	Oct 16, 2022 (156)
14	SANFORD_IMAGENETICS	ss5660206249	Oct 16, 2022 (156)
15	TOMMO_GENOMICS	ss5778979296	Oct 16, 2022 (156)
16	EVA	ss5951595582	Oct 16, 2022 (156)
17	1000Genomes	NC_000017.10 - 48642011	Oct 12, 2018 (152)
18	1000Genomes_30x	NC_000017.11 - 50564650	Oct 16, 2022 (156)
19	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508834112 (NC_000017.11:50564649:C:A 15/140114) Row 508834113 (NC_000017.11:50564649:C:T 67/140114)	-	Apr 26, 2021 (155)
20	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508834112 (NC_000017.11:50564649:C:A 15/140114) Row 508834113 (NC_000017.11:50564649:C:T 67/140114)	-	Apr 26, 2021 (155)
21	SGDP_PRJ	NC_000017.10 - 48642011	Apr 27, 2020 (154)
22	8.3KJPN	NC_000017.10 - 48642011	Apr 26, 2021 (155)
23	14KJPN	NC_000017.11 - 50564650	Oct 16, 2022 (156)
24	TopMed Submission ignored due to conflicting rows: Row 253359179 (NC_000017.11:50564649:C:A 40/264690) Row 253359180 (NC_000017.11:50564649:C:T 139/264690)	-	Apr 26, 2021 (155)
25	TopMed Submission ignored due to conflicting rows: Row 253359179 (NC_000017.11:50564649:C:A 40/264690) Row 253359180 (NC_000017.11:50564649:C:T 139/264690)	-	Apr 26, 2021 (155)
26	ALFA	NC_000017.11 - 50564650	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
72109582, 37878152, ss339731713, ss1358859842, ss2950497572, ss3885861172, ss5660206249, ss5951595582	NC_000017.10:48642010:C:A	NC_000017.11:50564649:C:A	(self)
94656119, 740000190, ss2217242539, ss5037813517, ss5303322286, ss5607130184	NC_000017.11:50564649:C:A	NC_000017.11:50564649:C:A	(self)
72109582, 80651995, ss1358859843, ss2950497572, ss5222682688	NC_000017.10:48642010:C:T	NC_000017.11:50564649:C:T	(self)
94656119, 112816400, 740000190, ss2217242539, ss5037813518, ss5303322287, ss5496349961, ss5607130184, ss5778979296	NC_000017.11:50564649:C:T	NC_000017.11:50564649:C:T	(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 rs142233067

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

rs142233067