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

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.

rs1486866970

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:32664055 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000023 (6/264690, TOPMED)
G=0.00241 (68/28256, 14KJPN)
G=0.00245 (41/16760, 8.3KJPN) (+ 2 more)
G=0.00000 (0/14050, ALFA)
G=0.0003 (1/2922, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CCDC7 : Synonymous 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 T=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 G=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 T=0.999977 G=0.000023
14KJPN JAPANESE Study-wide 28256 T=0.99759 G=0.00241
8.3KJPN JAPANESE Study-wide 16760 T=0.99755 G=0.00245
Allele Frequency Aggregator Total Global 14050 T=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 G=0.00
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9997 G=0.0003
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 10 NC_000010.11:g.32664055T>G
GRCh37.p13 chr 10 NC_000010.10:g.32952983T>G
Gene: CCDC7, coiled-coil domain containing 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CCDC7 transcript variant 7 NM_001395233.1:c.1064-219…

NM_001395233.1:c.1064-21915T>G

N/A Intron Variant
CCDC7 transcript variant 2 NM_001026383.3:c. N/A Genic Downstream Transcript Variant
CCDC7 transcript variant 1 NM_145023.6:c. N/A Genic Downstream Transcript Variant
CCDC7 transcript variant 5 NM_001321115.2:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform c NP_001308044.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant 6 NM_001395015.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform c NP_001381944.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant 3 NR_109826.2:n. N/A Genic Downstream Transcript Variant
CCDC7 transcript variant 4 NR_109827.2:n. N/A Genic Downstream Transcript Variant
CCDC7 transcript variant X23 XM_006717506.1:c.1802-219…

XM_006717506.1:c.1802-21915T>G

N/A Intron Variant
CCDC7 transcript variant X11 XM_011519670.1:c.2015-219…

XM_011519670.1:c.2015-21915T>G

N/A Intron Variant
CCDC7 transcript variant X18 XM_011519675.1:c.1913-219…

XM_011519675.1:c.1913-21915T>G

N/A Intron Variant
CCDC7 transcript variant X24 XM_047425746.1:c.1802-219…

XM_047425746.1:c.1802-21915T>G

N/A Intron Variant
CCDC7 transcript variant X19 XM_006717505.1:c.1803T>G A [GCT] > A [GCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X18 XP_006717568.1:p.Ala601= A (Ala) > A (Ala) Synonymous Variant
CCDC7 transcript variant X3 XM_011519664.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X2 XP_011517966.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X8 XM_011519666.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X7 XP_011517968.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X7 XM_011519667.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X6 XP_011517969.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X9 XM_011519668.1:c.1926T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X8 XP_011517970.1:p.Ser642= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X10 XM_011519669.1:c.1914T>G A [GCT] > A [GCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X9 XP_011517971.1:p.Ala638= A (Ala) > A (Ala) Synonymous Variant
CCDC7 transcript variant X12 XM_011519671.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X11 XP_011517973.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X13 XM_011519672.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X12 XP_011517974.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X14 XM_011519673.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X13 XP_011517975.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X16 XM_011519674.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X15 XP_011517976.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X20 XM_011519676.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X19 XP_011517978.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X21 XM_011519677.1:c.1794T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X20 XP_011517979.1:p.Ser598= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X22 XM_011519678.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X21 XP_011517980.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X25 XM_011519679.1:c.1485T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X24 XP_011517981.1:p.Ser495= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X42 XM_011519687.1:c.225T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X38 XP_011517989.1:p.Ser75= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X6 XM_017016638.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X5 XP_016872127.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X17 XM_017016640.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X16 XP_016872129.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X29 XM_017016643.1:c.1206T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X27 XP_016872132.1:p.Ser402= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X30 XM_017016644.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X28 XP_016872133.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X32 XM_017016646.1:c.1101T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X29 XP_016872135.1:p.Ser367= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X33 XM_011519683.2:c.1095T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X30 XP_011517985.1:p.Ser365= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X36 XM_017016648.1:c.960T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X33 XP_016872137.1:p.Ser320= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X40 XM_017016651.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X36 XP_016872140.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X4 XM_024448165.1:c.1995T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X3 XP_024303933.1:p.Ser665= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X5 XM_024448166.1:c.1983T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X4 XP_024303934.1:p.Ser661= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X28 XM_011519680.3:c.1356T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X26 XP_011517982.1:p.Ser452= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X43 XM_011519688.3:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X39 XP_011517990.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X1 XM_047425742.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X1 XP_047281698.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X2 XM_047425743.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X1 XP_047281699.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X15 XM_047425744.1:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X14 XP_047281700.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X26 XM_017016641.2:c.1455T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X25 XP_016872130.1:p.Ser485= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X27 XM_017016642.2:c.1356T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X26 XP_016872131.1:p.Ser452= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X31 XM_047425747.1:c.1101T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X29 XP_047281703.1:p.Ser367= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X34 XM_017016647.3:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X31 XP_016872136.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X35 XM_011519684.4:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X32 XP_011517986.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X37 XM_011519686.3:c.2016T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X34 XP_011517988.1:p.Ser672= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X38 XM_047425748.1:c.735T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X35 XP_047281704.1:p.Ser245= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X39 XM_017016649.2:c.735T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X35 XP_016872138.1:p.Ser245= S (Ser) > S (Ser) Synonymous Variant
CCDC7 transcript variant X41 XM_017016652.2:c.258T>G S [TCT] > S [TCG] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X37 XP_016872141.1:p.Ser86= S (Ser) > S (Ser) Synonymous 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 T= G
GRCh38.p14 chr 10 NC_000010.11:g.32664055= NC_000010.11:g.32664055T>G
GRCh37.p13 chr 10 NC_000010.10:g.32952983= NC_000010.10:g.32952983T>G
CCDC7 transcript variant X35 XM_011519684.4:c.2016= XM_011519684.4:c.2016T>G
CCDC7 transcript variant X34 XM_011519684.3:c.2016= XM_011519684.3:c.2016T>G
CCDC7 transcript variant X31 XM_011519684.2:c.2016= XM_011519684.2:c.2016T>G
CCDC7 transcript variant X25 XM_011519684.1:c.2016= XM_011519684.1:c.2016T>G
CCDC7 transcript variant X37 XM_011519686.3:c.2016= XM_011519686.3:c.2016T>G
CCDC7 transcript variant X37 XM_011519686.2:c.2016= XM_011519686.2:c.2016T>G
CCDC7 transcript variant X27 XM_011519686.1:c.2016= XM_011519686.1:c.2016T>G
CCDC7 transcript variant X28 XM_011519680.3:c.1356= XM_011519680.3:c.1356T>G
CCDC7 transcript variant X24 XM_011519680.2:c.1356= XM_011519680.2:c.1356T>G
CCDC7 transcript variant X21 XM_011519680.1:c.1356= XM_011519680.1:c.1356T>G
CCDC7 transcript variant X34 XM_017016647.3:c.2016= XM_017016647.3:c.2016T>G
CCDC7 transcript variant X33 XM_017016647.2:c.2016= XM_017016647.2:c.2016T>G
CCDC7 transcript variant X30 XM_017016647.1:c.2016= XM_017016647.1:c.2016T>G
CCDC7 transcript variant X43 XM_011519688.3:c.2016= XM_011519688.3:c.2016T>G
CCDC7 transcript variant X40 XM_011519688.2:c.2016= XM_011519688.2:c.2016T>G
CCDC7 transcript variant X29 XM_011519688.1:c.2016= XM_011519688.1:c.2016T>G
CCDC7 transcript variant 5 NM_001321115.2:c.2016= NM_001321115.2:c.2016T>G
CCDC7 transcript variant 5 NM_001321115.1:c.2016= NM_001321115.1:c.2016T>G
CCDC7 transcript variant X27 XM_017016642.2:c.1356= XM_017016642.2:c.1356T>G
CCDC7 transcript variant X25 XM_017016642.1:c.1356= XM_017016642.1:c.1356T>G
CCDC7 transcript variant X26 XM_017016641.2:c.1455= XM_017016641.2:c.1455T>G
CCDC7 transcript variant X24 XM_017016641.1:c.1455= XM_017016641.1:c.1455T>G
CCDC7 transcript variant X33 XM_011519683.2:c.1095= XM_011519683.2:c.1095T>G
CCDC7 transcript variant X24 XM_011519683.1:c.1095= XM_011519683.1:c.1095T>G
CCDC7 transcript variant X39 XM_017016649.2:c.735= XM_017016649.2:c.735T>G
CCDC7 transcript variant X38 XM_017016649.1:c.735= XM_017016649.1:c.735T>G
CCDC7 transcript variant X41 XM_017016652.2:c.258= XM_017016652.2:c.258T>G
CCDC7 transcript variant X41 XM_017016652.1:c.258= XM_017016652.1:c.258T>G
CCDC7 transcript variant X1 XM_047425742.1:c.2016= XM_047425742.1:c.2016T>G
CCDC7 transcript variant 6 NM_001395015.1:c.2016= NM_001395015.1:c.2016T>G
CCDC7 transcript variant X4 XM_024448165.1:c.1995= XM_024448165.1:c.1995T>G
CCDC7 transcript variant X5 XM_024448166.1:c.1983= XM_024448166.1:c.1983T>G
CCDC7 transcript variant X6 XM_017016638.1:c.2016= XM_017016638.1:c.2016T>G
CCDC7 transcript variant X7 XM_011519667.1:c.2016= XM_011519667.1:c.2016T>G
CCDC7 transcript variant X8 XM_011519666.1:c.2016= XM_011519666.1:c.2016T>G
CCDC7 transcript variant X9 XM_011519668.1:c.1926= XM_011519668.1:c.1926T>G
CCDC7 transcript variant X10 XM_011519669.1:c.1914= XM_011519669.1:c.1914T>G
CCDC7 transcript variant X12 XM_011519671.1:c.2016= XM_011519671.1:c.2016T>G
CCDC7 transcript variant X13 XM_011519672.1:c.2016= XM_011519672.1:c.2016T>G
CCDC7 transcript variant X14 XM_011519673.1:c.2016= XM_011519673.1:c.2016T>G
CCDC7 transcript variant X2 XM_047425743.1:c.2016= XM_047425743.1:c.2016T>G
CCDC7 transcript variant X15 XM_047425744.1:c.2016= XM_047425744.1:c.2016T>G
CCDC7 transcript variant X17 XM_017016640.1:c.2016= XM_017016640.1:c.2016T>G
CCDC7 transcript variant X16 XM_011519674.1:c.2016= XM_011519674.1:c.2016T>G
CCDC7 transcript variant X19 XM_006717505.1:c.1803= XM_006717505.1:c.1803T>G
CCDC7 transcript variant X21 XM_011519677.1:c.1794= XM_011519677.1:c.1794T>G
CCDC7 transcript variant X20 XM_011519676.1:c.2016= XM_011519676.1:c.2016T>G
CCDC7 transcript variant X22 XM_011519678.1:c.2016= XM_011519678.1:c.2016T>G
CCDC7 transcript variant X3 XM_011519664.1:c.2016= XM_011519664.1:c.2016T>G
CCDC7 transcript variant X25 XM_011519679.1:c.1485= XM_011519679.1:c.1485T>G
CCDC7 transcript variant X29 XM_017016643.1:c.1206= XM_017016643.1:c.1206T>G
CCDC7 transcript variant X31 XM_047425747.1:c.1101= XM_047425747.1:c.1101T>G
CCDC7 transcript variant X38 XM_047425748.1:c.735= XM_047425748.1:c.735T>G
CCDC7 transcript variant X32 XM_017016646.1:c.1101= XM_017016646.1:c.1101T>G
CCDC7 transcript variant X30 XM_017016644.1:c.2016= XM_017016644.1:c.2016T>G
CCDC7 transcript variant X36 XM_017016648.1:c.960= XM_017016648.1:c.960T>G
CCDC7 transcript variant X40 XM_017016651.1:c.2016= XM_017016651.1:c.2016T>G
CCDC7 transcript variant X42 XM_011519687.1:c.225= XM_011519687.1:c.225T>G
uncharacterized protein C10orf68 isoform X32 XP_011517986.1:p.Ser672= XP_011517986.1:p.Ser672=
uncharacterized protein C10orf68 isoform X34 XP_011517988.1:p.Ser672= XP_011517988.1:p.Ser672=
uncharacterized protein C10orf68 isoform X26 XP_011517982.1:p.Ser452= XP_011517982.1:p.Ser452=
uncharacterized protein C10orf68 isoform X31 XP_016872136.1:p.Ser672= XP_016872136.1:p.Ser672=
uncharacterized protein C10orf68 isoform X39 XP_011517990.1:p.Ser672= XP_011517990.1:p.Ser672=
uncharacterized protein C10orf68 isoform c NP_001308044.1:p.Ser672= NP_001308044.1:p.Ser672=
uncharacterized protein C10orf68 isoform X26 XP_016872131.1:p.Ser452= XP_016872131.1:p.Ser452=
uncharacterized protein C10orf68 isoform X25 XP_016872130.1:p.Ser485= XP_016872130.1:p.Ser485=
uncharacterized protein C10orf68 isoform X30 XP_011517985.1:p.Ser365= XP_011517985.1:p.Ser365=
uncharacterized protein C10orf68 isoform X35 XP_016872138.1:p.Ser245= XP_016872138.1:p.Ser245=
uncharacterized protein C10orf68 isoform X37 XP_016872141.1:p.Ser86= XP_016872141.1:p.Ser86=
uncharacterized protein C10orf68 isoform X1 XP_047281698.1:p.Ser672= XP_047281698.1:p.Ser672=
uncharacterized protein C10orf68 isoform c NP_001381944.1:p.Ser672= NP_001381944.1:p.Ser672=
uncharacterized protein C10orf68 isoform X3 XP_024303933.1:p.Ser665= XP_024303933.1:p.Ser665=
uncharacterized protein C10orf68 isoform X4 XP_024303934.1:p.Ser661= XP_024303934.1:p.Ser661=
uncharacterized protein C10orf68 isoform X5 XP_016872127.1:p.Ser672= XP_016872127.1:p.Ser672=
uncharacterized protein C10orf68 isoform X6 XP_011517969.1:p.Ser672= XP_011517969.1:p.Ser672=
uncharacterized protein C10orf68 isoform X7 XP_011517968.1:p.Ser672= XP_011517968.1:p.Ser672=
uncharacterized protein C10orf68 isoform X8 XP_011517970.1:p.Ser642= XP_011517970.1:p.Ser642=
uncharacterized protein C10orf68 isoform X9 XP_011517971.1:p.Ala638= XP_011517971.1:p.Ala638=
uncharacterized protein C10orf68 isoform X11 XP_011517973.1:p.Ser672= XP_011517973.1:p.Ser672=
uncharacterized protein C10orf68 isoform X12 XP_011517974.1:p.Ser672= XP_011517974.1:p.Ser672=
uncharacterized protein C10orf68 isoform X13 XP_011517975.1:p.Ser672= XP_011517975.1:p.Ser672=
uncharacterized protein C10orf68 isoform X1 XP_047281699.1:p.Ser672= XP_047281699.1:p.Ser672=
uncharacterized protein C10orf68 isoform X14 XP_047281700.1:p.Ser672= XP_047281700.1:p.Ser672=
uncharacterized protein C10orf68 isoform X16 XP_016872129.1:p.Ser672= XP_016872129.1:p.Ser672=
uncharacterized protein C10orf68 isoform X15 XP_011517976.1:p.Ser672= XP_011517976.1:p.Ser672=
uncharacterized protein C10orf68 isoform X18 XP_006717568.1:p.Ala601= XP_006717568.1:p.Ala601=
uncharacterized protein C10orf68 isoform X20 XP_011517979.1:p.Ser598= XP_011517979.1:p.Ser598=
uncharacterized protein C10orf68 isoform X19 XP_011517978.1:p.Ser672= XP_011517978.1:p.Ser672=
uncharacterized protein C10orf68 isoform X21 XP_011517980.1:p.Ser672= XP_011517980.1:p.Ser672=
uncharacterized protein C10orf68 isoform X2 XP_011517966.1:p.Ser672= XP_011517966.1:p.Ser672=
uncharacterized protein C10orf68 isoform X24 XP_011517981.1:p.Ser495= XP_011517981.1:p.Ser495=
uncharacterized protein C10orf68 isoform X27 XP_016872132.1:p.Ser402= XP_016872132.1:p.Ser402=
uncharacterized protein C10orf68 isoform X29 XP_047281703.1:p.Ser367= XP_047281703.1:p.Ser367=
uncharacterized protein C10orf68 isoform X35 XP_047281704.1:p.Ser245= XP_047281704.1:p.Ser245=
uncharacterized protein C10orf68 isoform X29 XP_016872135.1:p.Ser367= XP_016872135.1:p.Ser367=
uncharacterized protein C10orf68 isoform X28 XP_016872133.1:p.Ser672= XP_016872133.1:p.Ser672=
uncharacterized protein C10orf68 isoform X33 XP_016872137.1:p.Ser320= XP_016872137.1:p.Ser320=
uncharacterized protein C10orf68 isoform X36 XP_016872140.1:p.Ser672= XP_016872140.1:p.Ser672=
uncharacterized protein C10orf68 isoform X38 XP_011517989.1:p.Ser75= XP_011517989.1:p.Ser75=
CCDC7 transcript variant 7 NM_001395233.1:c.1064-21915= NM_001395233.1:c.1064-21915T>G
CCDC7 transcript variant 5 NM_024688.2:c.44-21915= NM_024688.2:c.44-21915T>G
C10orf68 transcript variant X1 XM_005252592.1:c.1382-21915= XM_005252592.1:c.1382-21915T>G
C10orf68 transcript variant X2 XM_005252593.1:c.44-21915= XM_005252593.1:c.44-21915T>G
CCDC7 transcript variant X23 XM_006717506.1:c.1802-21915= XM_006717506.1:c.1802-21915T>G
CCDC7 transcript variant X11 XM_011519670.1:c.2015-21915= XM_011519670.1:c.2015-21915T>G
CCDC7 transcript variant X18 XM_011519675.1:c.1913-21915= XM_011519675.1:c.1913-21915T>G
CCDC7 transcript variant X24 XM_047425746.1:c.1802-21915= XM_047425746.1:c.1802-21915T>G
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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 KRGDB ss3921879582 Apr 26, 2020 (154)
2 TOPMED ss4848055905 Apr 26, 2021 (155)
3 TOMMO_GENOMICS ss5197027279 Apr 26, 2021 (155)
4 EVA ss5392656545 Oct 16, 2022 (156)
5 TOMMO_GENOMICS ss5742100632 Oct 16, 2022 (156)
6 KOREAN population from KRGDB NC_000010.10 - 32952983 Apr 26, 2020 (154)
7 8.3KJPN NC_000010.10 - 32952983 Apr 26, 2021 (155)
8 14KJPN NC_000010.11 - 32664055 Oct 16, 2022 (156)
9 TopMed NC_000010.11 - 32664055 Apr 26, 2021 (155)
10 ALFA NC_000010.11 - 32664055 Apr 26, 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
29056976, 54996586, ss3921879582, ss5197027279, ss5392656545 NC_000010.10:32952982:T:G NC_000010.11:32664054:T:G (self)
75937736, 63601560, 7419864502, ss4848055905, ss5742100632 NC_000010.11:32664054:T:G NC_000010.11:32664054:T:G (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 rs1486866970

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