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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.

rs1479961086

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:32664138 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000007 (1/139996, GnomAD)
A=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CCDC7 : 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=0.99993 A=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 C=0.9999 A=0.0001 0.999794 0.0 0.000206 0
African Sub 2898 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=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
gnomAD - Genomes Global Study-wide 139996 C=0.999993 A=0.000007
gnomAD - Genomes European Sub 75788 C=0.99999 A=0.00001
gnomAD - Genomes African Sub 42006 C=1.00000 A=0.00000
gnomAD - Genomes American Sub 13604 C=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3128 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2146 C=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 C=0.99993 A=0.00007
Allele Frequency Aggregator European Sub 9690 C=0.9999 A=0.0001
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=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 10 NC_000010.11:g.32664138C>A
GRCh37.p13 chr 10 NC_000010.10:g.32953066C>A
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.1064-218…

NM_001395233.1:c.1064-21832C>A

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.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform c NP_001308044.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant 6 NM_001395015.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform c NP_001381944.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense 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.1802-218…

XM_006717506.1:c.1802-21832C>A

N/A Intron Variant
CCDC7 transcript variant X11 XM_011519670.1:c.2015-218…

XM_011519670.1:c.2015-21832C>A

N/A Intron Variant
CCDC7 transcript variant X18 XM_011519675.1:c.1913-218…

XM_011519675.1:c.1913-21832C>A

N/A Intron Variant
CCDC7 transcript variant X24 XM_047425746.1:c.1802-218…

XM_047425746.1:c.1802-21832C>A

N/A Intron Variant
CCDC7 transcript variant X19 XM_006717505.1:c.1886C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X18 XP_006717568.1:p.Ser629Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X3 XM_011519664.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X2 XP_011517966.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X8 XM_011519666.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X7 XP_011517968.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X7 XM_011519667.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X6 XP_011517969.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X9 XM_011519668.1:c.2009C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X8 XP_011517970.1:p.Ser670Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X10 XM_011519669.1:c.1997C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X9 XP_011517971.1:p.Ser666Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X12 XM_011519671.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X11 XP_011517973.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X13 XM_011519672.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X12 XP_011517974.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X14 XM_011519673.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X13 XP_011517975.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X16 XM_011519674.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X15 XP_011517976.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X20 XM_011519676.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X19 XP_011517978.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X21 XM_011519677.1:c.1877C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X20 XP_011517979.1:p.Ser626Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X22 XM_011519678.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X21 XP_011517980.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X25 XM_011519679.1:c.1568C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X24 XP_011517981.1:p.Ser523Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X42 XM_011519687.1:c.308C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X38 XP_011517989.1:p.Ser103Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X6 XM_017016638.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X5 XP_016872127.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X17 XM_017016640.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X16 XP_016872129.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X29 XM_017016643.1:c.1289C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X27 XP_016872132.1:p.Ser430Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X30 XM_017016644.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X28 XP_016872133.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X32 XM_017016646.1:c.1184C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X29 XP_016872135.1:p.Ser395Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X33 XM_011519683.2:c.1178C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X30 XP_011517985.1:p.Ser393Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X36 XM_017016648.1:c.1043C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X33 XP_016872137.1:p.Ser348Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X40 XM_017016651.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X36 XP_016872140.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X4 XM_024448165.1:c.2078C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X3 XP_024303933.1:p.Ser693Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X5 XM_024448166.1:c.2066C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X4 XP_024303934.1:p.Ser689Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X28 XM_011519680.3:c.1439C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X26 XP_011517982.1:p.Ser480Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X43 XM_011519688.3:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X39 XP_011517990.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X1 XM_047425742.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X1 XP_047281698.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X2 XM_047425743.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X1 XP_047281699.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X15 XM_047425744.1:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X14 XP_047281700.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X26 XM_017016641.2:c.1538C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X25 XP_016872130.1:p.Ser513Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X27 XM_017016642.2:c.1439C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X26 XP_016872131.1:p.Ser480Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X31 XM_047425747.1:c.1184C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X29 XP_047281703.1:p.Ser395Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X34 XM_017016647.3:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X31 XP_016872136.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X35 XM_011519684.4:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X32 XP_011517986.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X37 XM_011519686.3:c.2099C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X34 XP_011517988.1:p.Ser700Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X38 XM_047425748.1:c.818C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X35 XP_047281704.1:p.Ser273Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X39 XM_017016649.2:c.818C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X35 XP_016872138.1:p.Ser273Tyr S (Ser) > Y (Tyr) Missense Variant
CCDC7 transcript variant X41 XM_017016652.2:c.341C>A S [TCT] > Y [TAT] Coding Sequence Variant
uncharacterized protein C10orf68 isoform X37 XP_016872141.1:p.Ser114Tyr S (Ser) > Y (Tyr) 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= A
GRCh38.p14 chr 10 NC_000010.11:g.32664138= NC_000010.11:g.32664138C>A
GRCh37.p13 chr 10 NC_000010.10:g.32953066= NC_000010.10:g.32953066C>A
CCDC7 transcript variant X35 XM_011519684.4:c.2099= XM_011519684.4:c.2099C>A
CCDC7 transcript variant X34 XM_011519684.3:c.2099= XM_011519684.3:c.2099C>A
CCDC7 transcript variant X31 XM_011519684.2:c.2099= XM_011519684.2:c.2099C>A
CCDC7 transcript variant X25 XM_011519684.1:c.2099= XM_011519684.1:c.2099C>A
CCDC7 transcript variant X37 XM_011519686.3:c.2099= XM_011519686.3:c.2099C>A
CCDC7 transcript variant X37 XM_011519686.2:c.2099= XM_011519686.2:c.2099C>A
CCDC7 transcript variant X27 XM_011519686.1:c.2099= XM_011519686.1:c.2099C>A
CCDC7 transcript variant X28 XM_011519680.3:c.1439= XM_011519680.3:c.1439C>A
CCDC7 transcript variant X24 XM_011519680.2:c.1439= XM_011519680.2:c.1439C>A
CCDC7 transcript variant X21 XM_011519680.1:c.1439= XM_011519680.1:c.1439C>A
CCDC7 transcript variant X34 XM_017016647.3:c.2099= XM_017016647.3:c.2099C>A
CCDC7 transcript variant X33 XM_017016647.2:c.2099= XM_017016647.2:c.2099C>A
CCDC7 transcript variant X30 XM_017016647.1:c.2099= XM_017016647.1:c.2099C>A
CCDC7 transcript variant X43 XM_011519688.3:c.2099= XM_011519688.3:c.2099C>A
CCDC7 transcript variant X40 XM_011519688.2:c.2099= XM_011519688.2:c.2099C>A
CCDC7 transcript variant X29 XM_011519688.1:c.2099= XM_011519688.1:c.2099C>A
CCDC7 transcript variant 5 NM_001321115.2:c.2099= NM_001321115.2:c.2099C>A
CCDC7 transcript variant 5 NM_001321115.1:c.2099= NM_001321115.1:c.2099C>A
CCDC7 transcript variant X27 XM_017016642.2:c.1439= XM_017016642.2:c.1439C>A
CCDC7 transcript variant X25 XM_017016642.1:c.1439= XM_017016642.1:c.1439C>A
CCDC7 transcript variant X26 XM_017016641.2:c.1538= XM_017016641.2:c.1538C>A
CCDC7 transcript variant X24 XM_017016641.1:c.1538= XM_017016641.1:c.1538C>A
CCDC7 transcript variant X33 XM_011519683.2:c.1178= XM_011519683.2:c.1178C>A
CCDC7 transcript variant X24 XM_011519683.1:c.1178= XM_011519683.1:c.1178C>A
CCDC7 transcript variant X39 XM_017016649.2:c.818= XM_017016649.2:c.818C>A
CCDC7 transcript variant X38 XM_017016649.1:c.818= XM_017016649.1:c.818C>A
CCDC7 transcript variant X41 XM_017016652.2:c.341= XM_017016652.2:c.341C>A
CCDC7 transcript variant X41 XM_017016652.1:c.341= XM_017016652.1:c.341C>A
CCDC7 transcript variant X1 XM_047425742.1:c.2099= XM_047425742.1:c.2099C>A
CCDC7 transcript variant 6 NM_001395015.1:c.2099= NM_001395015.1:c.2099C>A
CCDC7 transcript variant X4 XM_024448165.1:c.2078= XM_024448165.1:c.2078C>A
CCDC7 transcript variant X5 XM_024448166.1:c.2066= XM_024448166.1:c.2066C>A
CCDC7 transcript variant X6 XM_017016638.1:c.2099= XM_017016638.1:c.2099C>A
CCDC7 transcript variant X7 XM_011519667.1:c.2099= XM_011519667.1:c.2099C>A
CCDC7 transcript variant X8 XM_011519666.1:c.2099= XM_011519666.1:c.2099C>A
CCDC7 transcript variant X9 XM_011519668.1:c.2009= XM_011519668.1:c.2009C>A
CCDC7 transcript variant X10 XM_011519669.1:c.1997= XM_011519669.1:c.1997C>A
CCDC7 transcript variant X12 XM_011519671.1:c.2099= XM_011519671.1:c.2099C>A
CCDC7 transcript variant X13 XM_011519672.1:c.2099= XM_011519672.1:c.2099C>A
CCDC7 transcript variant X14 XM_011519673.1:c.2099= XM_011519673.1:c.2099C>A
CCDC7 transcript variant X2 XM_047425743.1:c.2099= XM_047425743.1:c.2099C>A
CCDC7 transcript variant X15 XM_047425744.1:c.2099= XM_047425744.1:c.2099C>A
CCDC7 transcript variant X17 XM_017016640.1:c.2099= XM_017016640.1:c.2099C>A
CCDC7 transcript variant X16 XM_011519674.1:c.2099= XM_011519674.1:c.2099C>A
CCDC7 transcript variant X19 XM_006717505.1:c.1886= XM_006717505.1:c.1886C>A
CCDC7 transcript variant X21 XM_011519677.1:c.1877= XM_011519677.1:c.1877C>A
CCDC7 transcript variant X20 XM_011519676.1:c.2099= XM_011519676.1:c.2099C>A
CCDC7 transcript variant X22 XM_011519678.1:c.2099= XM_011519678.1:c.2099C>A
CCDC7 transcript variant X3 XM_011519664.1:c.2099= XM_011519664.1:c.2099C>A
CCDC7 transcript variant X25 XM_011519679.1:c.1568= XM_011519679.1:c.1568C>A
CCDC7 transcript variant X29 XM_017016643.1:c.1289= XM_017016643.1:c.1289C>A
CCDC7 transcript variant X31 XM_047425747.1:c.1184= XM_047425747.1:c.1184C>A
CCDC7 transcript variant X38 XM_047425748.1:c.818= XM_047425748.1:c.818C>A
CCDC7 transcript variant X32 XM_017016646.1:c.1184= XM_017016646.1:c.1184C>A
CCDC7 transcript variant X30 XM_017016644.1:c.2099= XM_017016644.1:c.2099C>A
CCDC7 transcript variant X36 XM_017016648.1:c.1043= XM_017016648.1:c.1043C>A
CCDC7 transcript variant X40 XM_017016651.1:c.2099= XM_017016651.1:c.2099C>A
CCDC7 transcript variant X42 XM_011519687.1:c.308= XM_011519687.1:c.308C>A
uncharacterized protein C10orf68 isoform X32 XP_011517986.1:p.Ser700= XP_011517986.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X34 XP_011517988.1:p.Ser700= XP_011517988.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X26 XP_011517982.1:p.Ser480= XP_011517982.1:p.Ser480Tyr
uncharacterized protein C10orf68 isoform X31 XP_016872136.1:p.Ser700= XP_016872136.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X39 XP_011517990.1:p.Ser700= XP_011517990.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform c NP_001308044.1:p.Ser700= NP_001308044.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X26 XP_016872131.1:p.Ser480= XP_016872131.1:p.Ser480Tyr
uncharacterized protein C10orf68 isoform X25 XP_016872130.1:p.Ser513= XP_016872130.1:p.Ser513Tyr
uncharacterized protein C10orf68 isoform X30 XP_011517985.1:p.Ser393= XP_011517985.1:p.Ser393Tyr
uncharacterized protein C10orf68 isoform X35 XP_016872138.1:p.Ser273= XP_016872138.1:p.Ser273Tyr
uncharacterized protein C10orf68 isoform X37 XP_016872141.1:p.Ser114= XP_016872141.1:p.Ser114Tyr
uncharacterized protein C10orf68 isoform X1 XP_047281698.1:p.Ser700= XP_047281698.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform c NP_001381944.1:p.Ser700= NP_001381944.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X3 XP_024303933.1:p.Ser693= XP_024303933.1:p.Ser693Tyr
uncharacterized protein C10orf68 isoform X4 XP_024303934.1:p.Ser689= XP_024303934.1:p.Ser689Tyr
uncharacterized protein C10orf68 isoform X5 XP_016872127.1:p.Ser700= XP_016872127.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X6 XP_011517969.1:p.Ser700= XP_011517969.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X7 XP_011517968.1:p.Ser700= XP_011517968.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X8 XP_011517970.1:p.Ser670= XP_011517970.1:p.Ser670Tyr
uncharacterized protein C10orf68 isoform X9 XP_011517971.1:p.Ser666= XP_011517971.1:p.Ser666Tyr
uncharacterized protein C10orf68 isoform X11 XP_011517973.1:p.Ser700= XP_011517973.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X12 XP_011517974.1:p.Ser700= XP_011517974.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X13 XP_011517975.1:p.Ser700= XP_011517975.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X1 XP_047281699.1:p.Ser700= XP_047281699.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X14 XP_047281700.1:p.Ser700= XP_047281700.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X16 XP_016872129.1:p.Ser700= XP_016872129.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X15 XP_011517976.1:p.Ser700= XP_011517976.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X18 XP_006717568.1:p.Ser629= XP_006717568.1:p.Ser629Tyr
uncharacterized protein C10orf68 isoform X20 XP_011517979.1:p.Ser626= XP_011517979.1:p.Ser626Tyr
uncharacterized protein C10orf68 isoform X19 XP_011517978.1:p.Ser700= XP_011517978.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X21 XP_011517980.1:p.Ser700= XP_011517980.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X2 XP_011517966.1:p.Ser700= XP_011517966.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X24 XP_011517981.1:p.Ser523= XP_011517981.1:p.Ser523Tyr
uncharacterized protein C10orf68 isoform X27 XP_016872132.1:p.Ser430= XP_016872132.1:p.Ser430Tyr
uncharacterized protein C10orf68 isoform X29 XP_047281703.1:p.Ser395= XP_047281703.1:p.Ser395Tyr
uncharacterized protein C10orf68 isoform X35 XP_047281704.1:p.Ser273= XP_047281704.1:p.Ser273Tyr
uncharacterized protein C10orf68 isoform X29 XP_016872135.1:p.Ser395= XP_016872135.1:p.Ser395Tyr
uncharacterized protein C10orf68 isoform X28 XP_016872133.1:p.Ser700= XP_016872133.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X33 XP_016872137.1:p.Ser348= XP_016872137.1:p.Ser348Tyr
uncharacterized protein C10orf68 isoform X36 XP_016872140.1:p.Ser700= XP_016872140.1:p.Ser700Tyr
uncharacterized protein C10orf68 isoform X38 XP_011517989.1:p.Ser103= XP_011517989.1:p.Ser103Tyr
CCDC7 transcript variant 7 NM_001395233.1:c.1064-21832= NM_001395233.1:c.1064-21832C>A
CCDC7 transcript variant 5 NM_024688.2:c.44-21832= NM_024688.2:c.44-21832C>A
C10orf68 transcript variant X1 XM_005252592.1:c.1382-21832= XM_005252592.1:c.1382-21832C>A
C10orf68 transcript variant X2 XM_005252593.1:c.44-21832= XM_005252593.1:c.44-21832C>A
CCDC7 transcript variant X23 XM_006717506.1:c.1802-21832= XM_006717506.1:c.1802-21832C>A
CCDC7 transcript variant X11 XM_011519670.1:c.2015-21832= XM_011519670.1:c.2015-21832C>A
CCDC7 transcript variant X18 XM_011519675.1:c.1913-21832= XM_011519675.1:c.1913-21832C>A
CCDC7 transcript variant X24 XM_047425746.1:c.1802-21832= XM_047425746.1:c.1802-21832C>A
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 GNOMAD ss4215779547 Apr 26, 2021 (155)
2 gnomAD - Genomes NC_000010.11 - 32664138 Apr 26, 2021 (155)
3 ALFA NC_000010.11 - 32664138 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
348202672, 3986477977, ss4215779547 NC_000010.11:32664137:C:A NC_000010.11:32664137:C:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1479961086

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