Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1479321111

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:44220159 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CAMK2B : Missense 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 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
Help

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 7 NC_000007.14:g.44220159C>T
GRCh37.p13 chr 7 NC_000007.13:g.44259758C>T
CAMK2B RefSeqGene NG_029407.1:g.110473G>A
Gene: CAMK2B, calcium/calmodulin dependent protein kinase II beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CAMK2B transcript variant 1 NM_001220.5:c.1904G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 1 NP_001211.3:p.Ser635Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 8 NM_172084.3:c.1253G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 8 NP_742081.1:p.Ser418Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 2 NM_172078.3:c.1532G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 2 NP_742075.1:p.Ser511Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 7 NM_172083.3:c.1343G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 7 NP_742080.1:p.Ser448Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 5 NM_172081.3:c.1415G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 5 NP_742078.1:p.Ser472Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 9 NM_001293170.2:c.1532G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 2 NP_001280099.1:p.Ser511Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 4 NM_172080.3:c.1457G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 4 NP_742077.1:p.Ser486Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 6 NM_172082.3:c.1382G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 6 NP_742079.1:p.Ser461Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant 3 NM_172079.3:c.1460G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 3 NP_742076.1:p.Ser487Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X16 XM_011515558.3:c. N/A Genic Downstream Transcript Variant
CAMK2B transcript variant X25 XM_047420883.1:c. N/A Genic Downstream Transcript Variant
CAMK2B transcript variant X1 XM_011515547.2:c.2033G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X1 XP_011513849.1:p.Ser678Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X2 XM_011515549.2:c.1988G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X2 XP_011513851.1:p.Ser663Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X3 XM_011515550.2:c.1961G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X3 XP_011513852.1:p.Ser654Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X4 XM_011515551.2:c.1961G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X4 XP_011513853.1:p.Ser654Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X5 XM_011515552.2:c.1958G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X5 XP_011513854.1:p.Ser653Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X6 XM_011515553.2:c.1919G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X6 XP_011513855.1:p.Ser640Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X7 XM_017012660.2:c.1916G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X7 XP_016868149.1:p.Ser639Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X8 XM_011515554.2:c.1913G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X8 XP_011513856.1:p.Ser638Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X9 XM_011515555.2:c.1904G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X9 XP_011513857.1:p.Ser635Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X10 XM_011515556.2:c.1889G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X10 XP_011513858.1:p.Ser630Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X11 XM_011515557.2:c.1886G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X11 XP_011513859.1:p.Ser629Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X12 XM_017012661.2:c.1874G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X12 XP_016868150.1:p.Ser625Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X13 XM_047420880.1:c.1832G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X13 XP_047276836.1:p.Ser611Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X14 XM_024446945.2:c.1790G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X14 XP_024302713.1:p.Ser597Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X15 XM_047420881.1:c.1787G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X15 XP_047276837.1:p.Ser596Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X17 XM_017012662.2:c.1715G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X17 XP_016868151.1:p.Ser572Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X18 XM_047420882.1:c.1673G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X18 XP_047276838.1:p.Ser558Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X19 XM_011515559.3:c.1646G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X19 XP_011513861.1:p.Ser549Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X20 XM_005249862.4:c.1487G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X20 XP_005249919.1:p.Ser496Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X21 XM_006715784.3:c.1460G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X21 XP_006715847.1:p.Ser487Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X22 XM_017012664.2:c.1412G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X22 XP_016868153.1:p.Ser471Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X23 XM_005249864.4:c.1388G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X23 XP_005249921.1:p.Ser463Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X24 XM_017012665.2:c.1385G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X24 XP_016868154.1:p.Ser462Asn S (Ser) > N (Asn) Missense Variant
CAMK2B transcript variant X26 XM_006715781.3:c.1784G>A S [AGC] > N [AAC] Coding Sequence Variant
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X26 XP_006715844.1:p.Ser595Asn S (Ser) > N (Asn) Missense Variant
Help

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
Help

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= T
GRCh38.p14 chr 7 NC_000007.14:g.44220159= NC_000007.14:g.44220159C>T
GRCh37.p13 chr 7 NC_000007.13:g.44259758= NC_000007.13:g.44259758C>T
CAMK2B RefSeqGene NG_029407.1:g.110473= NG_029407.1:g.110473G>A
CAMK2B transcript variant 1 NM_001220.5:c.1904= NM_001220.5:c.1904G>A
CAMK2B transcript variant 1 NM_001220.4:c.1904= NM_001220.4:c.1904G>A
CAMK2B transcript variant 2 NM_172078.3:c.1532= NM_172078.3:c.1532G>A
CAMK2B transcript variant 2 NM_172078.2:c.1532= NM_172078.2:c.1532G>A
CAMK2B transcript variant 3 NM_172079.3:c.1460= NM_172079.3:c.1460G>A
CAMK2B transcript variant 3 NM_172079.2:c.1460= NM_172079.2:c.1460G>A
CAMK2B transcript variant 4 NM_172080.3:c.1457= NM_172080.3:c.1457G>A
CAMK2B transcript variant 4 NM_172080.2:c.1457= NM_172080.2:c.1457G>A
CAMK2B transcript variant 5 NM_172081.3:c.1415= NM_172081.3:c.1415G>A
CAMK2B transcript variant 5 NM_172081.2:c.1415= NM_172081.2:c.1415G>A
CAMK2B transcript variant 6 NM_172082.3:c.1382= NM_172082.3:c.1382G>A
CAMK2B transcript variant 6 NM_172082.2:c.1382= NM_172082.2:c.1382G>A
CAMK2B transcript variant 7 NM_172083.3:c.1343= NM_172083.3:c.1343G>A
CAMK2B transcript variant 7 NM_172083.2:c.1343= NM_172083.2:c.1343G>A
CAMK2B transcript variant 8 NM_172084.3:c.1253= NM_172084.3:c.1253G>A
CAMK2B transcript variant 8 NM_172084.2:c.1253= NM_172084.2:c.1253G>A
CAMK2B transcript variant 9 NM_001293170.2:c.1532= NM_001293170.2:c.1532G>A
CAMK2B transcript variant 9 NM_001293170.1:c.1532= NM_001293170.1:c.1532G>A
CAMK2B transcript variant X20 XM_005249862.4:c.1487= XM_005249862.4:c.1487G>A
CAMK2B transcript variant X18 XM_005249862.3:c.1487= XM_005249862.3:c.1487G>A
CAMK2B transcript variant X5 XM_005249862.2:c.1487= XM_005249862.2:c.1487G>A
CAMK2B transcript variant X5 XM_005249862.1:c.1487= XM_005249862.1:c.1487G>A
CAMK2B transcript variant X23 XM_005249864.4:c.1388= XM_005249864.4:c.1388G>A
CAMK2B transcript variant X21 XM_005249864.3:c.1388= XM_005249864.3:c.1388G>A
CAMK2B transcript variant X7 XM_005249864.2:c.1388= XM_005249864.2:c.1388G>A
CAMK2B transcript variant X7 XM_005249864.1:c.1388= XM_005249864.1:c.1388G>A
CAMK2B transcript variant X19 XM_011515559.3:c.1646= XM_011515559.3:c.1646G>A
CAMK2B transcript variant X16 XM_011515559.2:c.1646= XM_011515559.2:c.1646G>A
CAMK2B transcript variant X15 XM_011515559.1:c.1646= XM_011515559.1:c.1646G>A
CAMK2B transcript variant X26 XM_006715781.3:c.1784= XM_006715781.3:c.1784G>A
CAMK2B transcript variant X29 XM_006715781.2:c.1784= XM_006715781.2:c.1784G>A
CAMK2B transcript variant X13 XM_006715781.1:c.1784= XM_006715781.1:c.1784G>A
CAMK2B transcript variant X21 XM_006715784.3:c.1460= XM_006715784.3:c.1460G>A
CAMK2B transcript variant X19 XM_006715784.2:c.1460= XM_006715784.2:c.1460G>A
CAMK2B transcript variant X16 XM_006715784.1:c.1460= XM_006715784.1:c.1460G>A
CAMK2B transcript variant X1 XM_011515547.2:c.2033= XM_011515547.2:c.2033G>A
CAMK2B transcript variant X1 XM_011515547.1:c.2033= XM_011515547.1:c.2033G>A
CAMK2B transcript variant X2 XM_011515549.2:c.1988= XM_011515549.2:c.1988G>A
CAMK2B transcript variant X2 XM_011515549.1:c.1988= XM_011515549.1:c.1988G>A
CAMK2B transcript variant X4 XM_011515551.2:c.1961= XM_011515551.2:c.1961G>A
CAMK2B transcript variant X4 XM_011515551.1:c.1961= XM_011515551.1:c.1961G>A
CAMK2B transcript variant X3 XM_011515550.2:c.1961= XM_011515550.2:c.1961G>A
CAMK2B transcript variant X3 XM_011515550.1:c.1961= XM_011515550.1:c.1961G>A
CAMK2B transcript variant X5 XM_011515552.2:c.1958= XM_011515552.2:c.1958G>A
CAMK2B transcript variant X5 XM_011515552.1:c.1958= XM_011515552.1:c.1958G>A
CAMK2B transcript variant X6 XM_011515553.2:c.1919= XM_011515553.2:c.1919G>A
CAMK2B transcript variant X6 XM_011515553.1:c.1919= XM_011515553.1:c.1919G>A
CAMK2B transcript variant X7 XM_017012660.2:c.1916= XM_017012660.2:c.1916G>A
CAMK2B transcript variant X7 XM_017012660.1:c.1916= XM_017012660.1:c.1916G>A
CAMK2B transcript variant X8 XM_011515554.2:c.1913= XM_011515554.2:c.1913G>A
CAMK2B transcript variant X8 XM_011515554.1:c.1913= XM_011515554.1:c.1913G>A
CAMK2B transcript variant X9 XM_011515555.2:c.1904= XM_011515555.2:c.1904G>A
CAMK2B transcript variant X9 XM_011515555.1:c.1904= XM_011515555.1:c.1904G>A
CAMK2B transcript variant X10 XM_011515556.2:c.1889= XM_011515556.2:c.1889G>A
CAMK2B transcript variant X10 XM_011515556.1:c.1889= XM_011515556.1:c.1889G>A
CAMK2B transcript variant X11 XM_011515557.2:c.1886= XM_011515557.2:c.1886G>A
CAMK2B transcript variant X11 XM_011515557.1:c.1886= XM_011515557.1:c.1886G>A
CAMK2B transcript variant X12 XM_017012661.2:c.1874= XM_017012661.2:c.1874G>A
CAMK2B transcript variant X12 XM_017012661.1:c.1874= XM_017012661.1:c.1874G>A
CAMK2B transcript variant X14 XM_024446945.2:c.1790= XM_024446945.2:c.1790G>A
CAMK2B transcript variant X13 XM_024446945.1:c.1790= XM_024446945.1:c.1790G>A
CAMK2B transcript variant X17 XM_017012662.2:c.1715= XM_017012662.2:c.1715G>A
CAMK2B transcript variant X15 XM_017012662.1:c.1715= XM_017012662.1:c.1715G>A
CAMK2B transcript variant X22 XM_017012664.2:c.1412= XM_017012664.2:c.1412G>A
CAMK2B transcript variant X20 XM_017012664.1:c.1412= XM_017012664.1:c.1412G>A
CAMK2B transcript variant X24 XM_017012665.2:c.1385= XM_017012665.2:c.1385G>A
CAMK2B transcript variant X22 XM_017012665.1:c.1385= XM_017012665.1:c.1385G>A
CAMK2B transcript variant X13 XM_047420880.1:c.1832= XM_047420880.1:c.1832G>A
CAMK2B transcript variant X15 XM_047420881.1:c.1787= XM_047420881.1:c.1787G>A
CAMK2B transcript variant X18 XM_047420882.1:c.1673= XM_047420882.1:c.1673G>A
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 1 NP_001211.3:p.Ser635= NP_001211.3:p.Ser635Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 2 NP_742075.1:p.Ser511= NP_742075.1:p.Ser511Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 3 NP_742076.1:p.Ser487= NP_742076.1:p.Ser487Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 4 NP_742077.1:p.Ser486= NP_742077.1:p.Ser486Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 5 NP_742078.1:p.Ser472= NP_742078.1:p.Ser472Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 6 NP_742079.1:p.Ser461= NP_742079.1:p.Ser461Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 7 NP_742080.1:p.Ser448= NP_742080.1:p.Ser448Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 8 NP_742081.1:p.Ser418= NP_742081.1:p.Ser418Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform 2 NP_001280099.1:p.Ser511= NP_001280099.1:p.Ser511Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X20 XP_005249919.1:p.Ser496= XP_005249919.1:p.Ser496Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X23 XP_005249921.1:p.Ser463= XP_005249921.1:p.Ser463Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X19 XP_011513861.1:p.Ser549= XP_011513861.1:p.Ser549Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X26 XP_006715844.1:p.Ser595= XP_006715844.1:p.Ser595Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X21 XP_006715847.1:p.Ser487= XP_006715847.1:p.Ser487Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X1 XP_011513849.1:p.Ser678= XP_011513849.1:p.Ser678Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X2 XP_011513851.1:p.Ser663= XP_011513851.1:p.Ser663Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X4 XP_011513853.1:p.Ser654= XP_011513853.1:p.Ser654Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X3 XP_011513852.1:p.Ser654= XP_011513852.1:p.Ser654Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X5 XP_011513854.1:p.Ser653= XP_011513854.1:p.Ser653Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X6 XP_011513855.1:p.Ser640= XP_011513855.1:p.Ser640Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X7 XP_016868149.1:p.Ser639= XP_016868149.1:p.Ser639Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X8 XP_011513856.1:p.Ser638= XP_011513856.1:p.Ser638Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X9 XP_011513857.1:p.Ser635= XP_011513857.1:p.Ser635Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X10 XP_011513858.1:p.Ser630= XP_011513858.1:p.Ser630Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X11 XP_011513859.1:p.Ser629= XP_011513859.1:p.Ser629Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X12 XP_016868150.1:p.Ser625= XP_016868150.1:p.Ser625Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X14 XP_024302713.1:p.Ser597= XP_024302713.1:p.Ser597Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X17 XP_016868151.1:p.Ser572= XP_016868151.1:p.Ser572Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X22 XP_016868153.1:p.Ser471= XP_016868153.1:p.Ser471Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X24 XP_016868154.1:p.Ser462= XP_016868154.1:p.Ser462Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X13 XP_047276836.1:p.Ser611= XP_047276836.1:p.Ser611Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X15 XP_047276837.1:p.Ser596= XP_047276837.1:p.Ser596Asn
calcium/calmodulin-dependent protein kinase type II subunit beta isoform X18 XP_047276838.1:p.Ser558= XP_047276838.1:p.Ser558Asn
Help

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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4743897992 Apr 27, 2021 (155)
2 TopMed NC_000007.14 - 44220159 Apr 27, 2021 (155)
3 ALFA NC_000007.14 - 44220159 Apr 27, 2021 (155)
Help

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
581275551, 6392855492, ss4743897992 NC_000007.14:44220158:C:T NC_000007.14:44220158:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1479321111

Help

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.

Software version is: 2.0.1.post820+afb47a3d