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.
rs1482891109
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:32846446-32846448 (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
- delAA
- Variation Type
- Indel Insertion and Deletion
- Frequency
- delAA=0.000004 (1/242172, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CCDC7 : Frameshift Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
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 - Exomes | Global | Study-wide | 242172 | AAA=0.999996 | delAA=0.000004 |
| gnomAD - Exomes | European | Sub | 132344 | AAA=1.000000 | delAA=0.000000 |
| gnomAD - Exomes | Asian | Sub | 46202 | AAA=1.00000 | delAA=0.00000 |
| gnomAD - Exomes | American | Sub | 32316 | AAA=0.99997 | delAA=0.00003 |
| gnomAD - Exomes | African | Sub | 15880 | AAA=1.00000 | delAA=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9592 | AAA=1.0000 | delAA=0.0000 |
| gnomAD - Exomes | Other | Sub | 5838 | AAA=1.0000 | delAA=0.0000 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.32846447_32846448del |
| GRCh37.p13 chr 10 | NC_000010.10:g.33135375_33135376del |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CCDC7 transcript variant 2 | NM_001026383.3:c. | N/A | Genic Downstream Transcript Variant |
| CCDC7 transcript variant 7 | NM_001395233.1: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.3676_367… NM_001321115.2:c.3676_3677del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform c | NP_001308044.1:p.Lys1226fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant 6 |
NM_001395015.1:c.3676_367… NM_001395015.1:c.3676_3677del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform c | NP_001381944.1:p.Lys1226fs | K (Lys) > E (Glu) | Frameshift 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 X35 | XM_011519684.4:c. | N/A | Genic Downstream Transcript Variant |
| CCDC7 transcript variant X37 | XM_011519686.3:c. | N/A | Genic Downstream Transcript Variant |
| CCDC7 transcript variant X43 | XM_011519688.3:c. | N/A | Genic Downstream Transcript Variant |
| CCDC7 transcript variant X30 | XM_017016644.1:c. | N/A | Genic Downstream Transcript Variant |
| CCDC7 transcript variant X34 | XM_017016647.3:c. | N/A | Genic Downstream Transcript Variant |
| CCDC7 transcript variant X40 | XM_017016651.1:c. | N/A | Genic Downstream Transcript Variant |
| CCDC7 transcript variant X19 |
XM_006717505.1:c.3463_346… XM_006717505.1:c.3463_3464del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X18 | XP_006717568.1:p.Lys1155fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X23 |
XM_006717506.1:c.3355_335… XM_006717506.1:c.3355_3356del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X22 | XP_006717569.1:p.Lys1119fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X3 |
XM_011519664.1:c.3676_367… XM_011519664.1:c.3676_3677del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X2 | XP_011517966.1:p.Lys1226fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X8 |
XM_011519666.1:c.3592_359… XM_011519666.1:c.3592_3593del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X7 | XP_011517968.1:p.Lys1198fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X7 |
XM_011519667.1:c.3592_359… XM_011519667.1:c.3592_3593del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X6 | XP_011517969.1:p.Lys1198fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X9 |
XM_011519668.1:c.3586_358… XM_011519668.1:c.3586_3587del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X8 | XP_011517970.1:p.Lys1196fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X10 |
XM_011519669.1:c.3574_357… XM_011519669.1:c.3574_3575del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X9 | XP_011517971.1:p.Lys1192fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X11 |
XM_011519670.1:c.3568_356… XM_011519670.1:c.3568_3569del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X10 | XP_011517972.1:p.Lys1190fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X12 |
XM_011519671.1:c.3568_356… XM_011519671.1:c.3568_3569del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X11 | XP_011517973.1:p.Lys1190fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X13 |
XM_011519672.1:c.3565_356… XM_011519672.1:c.3565_3566del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X12 | XP_011517974.1:p.Lys1189fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X14 |
XM_011519673.1:c.3562_356… XM_011519673.1:c.3562_3563del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X13 | XP_011517975.1:p.Lys1188fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X16 |
XM_011519674.1:c.3484_348… XM_011519674.1:c.3484_3485del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X15 | XP_011517976.1:p.Lys1162fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X18 |
XM_011519675.1:c.3466_346… XM_011519675.1:c.3466_3467del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X17 | XP_011517977.1:p.Lys1156fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X20 |
XM_011519676.1:c.3454_345… XM_011519676.1:c.3454_3455del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X19 | XP_011517978.1:p.Lys1152fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X21 |
XM_011519677.1:c.3454_345… XM_011519677.1:c.3454_3455del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X20 | XP_011517979.1:p.Lys1152fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X22 |
XM_011519678.1:c.3451_345… XM_011519678.1:c.3451_3452del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X21 | XP_011517980.1:p.Lys1151fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X25 |
XM_011519679.1:c.3145_314… XM_011519679.1:c.3145_3146del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X24 | XP_011517981.1:p.Lys1049fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X42 |
XM_011519687.1:c.1885_188… XM_011519687.1:c.1885_1886del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X38 | XP_011517989.1:p.Lys629fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X6 |
XM_017016638.1:c.3631_363… XM_017016638.1:c.3631_3632del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X5 | XP_016872127.1:p.Lys1211fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X17 |
XM_017016640.1:c.3484_348… XM_017016640.1:c.3484_3485del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X16 | XP_016872129.1:p.Lys1162fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X29 |
XM_017016643.1:c.2866_286… XM_017016643.1:c.2866_2867del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X27 | XP_016872132.1:p.Lys956fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X32 |
XM_017016646.1:c.2761_276… XM_017016646.1:c.2761_2762del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X29 | XP_016872135.1:p.Lys921fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X33 |
XM_011519683.2:c.2755_275… XM_011519683.2:c.2755_2756del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X30 | XP_011517985.1:p.Lys919fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X36 |
XM_017016648.1:c.2620_262… XM_017016648.1:c.2620_2621del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X33 | XP_016872137.1:p.Lys874fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X4 |
XM_024448165.1:c.3655_365… XM_024448165.1:c.3655_3656del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X3 | XP_024303933.1:p.Lys1219fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X5 |
XM_024448166.1:c.3643_364… XM_024448166.1:c.3643_3644del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X4 | XP_024303934.1:p.Lys1215fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X28 |
XM_011519680.3:c.3016_301… XM_011519680.3:c.3016_3017del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X26 | XP_011517982.1:p.Lys1006fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X1 |
XM_047425742.1:c.3676_367… XM_047425742.1:c.3676_3677del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X1 | XP_047281698.1:p.Lys1226fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X2 |
XM_047425743.1:c.3676_367… XM_047425743.1:c.3676_3677del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X1 | XP_047281699.1:p.Lys1226fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X15 |
XM_047425744.1:c.3508_350… XM_047425744.1:c.3508_3509del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X14 | XP_047281700.1:p.Lys1170fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X24 |
XM_047425746.1:c.3244_324… XM_047425746.1:c.3244_3245del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X23 | XP_047281702.1:p.Lys1082fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X26 |
XM_017016641.2:c.3115_311… XM_017016641.2:c.3115_3116del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X25 | XP_016872130.1:p.Lys1039fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X27 |
XM_017016642.2:c.3016_301… XM_017016642.2:c.3016_3017del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X26 | XP_016872131.1:p.Lys1006fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X31 |
XM_047425747.1:c.2761_276… XM_047425747.1:c.2761_2762del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X29 | XP_047281703.1:p.Lys921fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X38 |
XM_047425748.1:c.2395_239… XM_047425748.1:c.2395_2396del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X35 | XP_047281704.1:p.Lys799fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X39 |
XM_017016649.2:c.2395_239… XM_017016649.2:c.2395_2396del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X35 | XP_016872138.1:p.Lys799fs | K (Lys) > E (Glu) | Frameshift Variant |
| CCDC7 transcript variant X41 |
XM_017016652.2:c.1918_191… XM_017016652.2:c.1918_1919del |
K [AA] > E [G] | Coding Sequence Variant |
| uncharacterized protein C10orf68 isoform X37 | XP_016872141.1:p.Lys640fs | K (Lys) > E (Glu) | Frameshift 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.
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 | AAA= | delAA |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.32846446_32846448= | NC_000010.11:g.32846447_32846448del |
| GRCh37.p13 chr 10 | NC_000010.10:g.33135374_33135376= | NC_000010.10:g.33135375_33135376del |
| CCDC7 transcript variant X28 | XM_011519680.3:c.3015_3017= | XM_011519680.3:c.3016_3017del |
| CCDC7 transcript variant X24 | XM_011519680.2:c.3015_3017= | XM_011519680.2:c.3016_3017del |
| CCDC7 transcript variant X21 | XM_011519680.1:c.3015_3017= | XM_011519680.1:c.3016_3017del |
| CCDC7 transcript variant 5 | NM_001321115.2:c.3675_3677= | NM_001321115.2:c.3676_3677del |
| CCDC7 transcript variant 5 | NM_001321115.1:c.3675_3677= | NM_001321115.1:c.3676_3677del |
| CCDC7 transcript variant X27 | XM_017016642.2:c.3015_3017= | XM_017016642.2:c.3016_3017del |
| CCDC7 transcript variant X25 | XM_017016642.1:c.3015_3017= | XM_017016642.1:c.3016_3017del |
| CCDC7 transcript variant X26 | XM_017016641.2:c.3114_3116= | XM_017016641.2:c.3115_3116del |
| CCDC7 transcript variant X24 | XM_017016641.1:c.3114_3116= | XM_017016641.1:c.3115_3116del |
| CCDC7 transcript variant X33 | XM_011519683.2:c.2754_2756= | XM_011519683.2:c.2755_2756del |
| CCDC7 transcript variant X24 | XM_011519683.1:c.2754_2756= | XM_011519683.1:c.2755_2756del |
| CCDC7 transcript variant X39 | XM_017016649.2:c.2394_2396= | XM_017016649.2:c.2395_2396del |
| CCDC7 transcript variant X38 | XM_017016649.1:c.2394_2396= | XM_017016649.1:c.2395_2396del |
| CCDC7 transcript variant X41 | XM_017016652.2:c.1917_1919= | XM_017016652.2:c.1918_1919del |
| CCDC7 transcript variant X41 | XM_017016652.1:c.1917_1919= | XM_017016652.1:c.1918_1919del |
| CCDC7 transcript variant 5 | NM_024688.2:c.1404_1406= | NM_024688.2:c.1405_1406del |
| CCDC7 transcript variant X1 | XM_047425742.1:c.3675_3677= | XM_047425742.1:c.3676_3677del |
| CCDC7 transcript variant 6 | NM_001395015.1:c.3675_3677= | NM_001395015.1:c.3676_3677del |
| CCDC7 transcript variant X4 | XM_024448165.1:c.3654_3656= | XM_024448165.1:c.3655_3656del |
| CCDC7 transcript variant X5 | XM_024448166.1:c.3642_3644= | XM_024448166.1:c.3643_3644del |
| CCDC7 transcript variant X6 | XM_017016638.1:c.3630_3632= | XM_017016638.1:c.3631_3632del |
| CCDC7 transcript variant X7 | XM_011519667.1:c.3591_3593= | XM_011519667.1:c.3592_3593del |
| CCDC7 transcript variant X8 | XM_011519666.1:c.3591_3593= | XM_011519666.1:c.3592_3593del |
| CCDC7 transcript variant X9 | XM_011519668.1:c.3585_3587= | XM_011519668.1:c.3586_3587del |
| CCDC7 transcript variant X10 | XM_011519669.1:c.3573_3575= | XM_011519669.1:c.3574_3575del |
| CCDC7 transcript variant X12 | XM_011519671.1:c.3567_3569= | XM_011519671.1:c.3568_3569del |
| CCDC7 transcript variant X11 | XM_011519670.1:c.3567_3569= | XM_011519670.1:c.3568_3569del |
| CCDC7 transcript variant X13 | XM_011519672.1:c.3564_3566= | XM_011519672.1:c.3565_3566del |
| CCDC7 transcript variant X14 | XM_011519673.1:c.3561_3563= | XM_011519673.1:c.3562_3563del |
| CCDC7 transcript variant X2 | XM_047425743.1:c.3675_3677= | XM_047425743.1:c.3676_3677del |
| CCDC7 transcript variant X15 | XM_047425744.1:c.3507_3509= | XM_047425744.1:c.3508_3509del |
| CCDC7 transcript variant X17 | XM_017016640.1:c.3483_3485= | XM_017016640.1:c.3484_3485del |
| CCDC7 transcript variant X16 | XM_011519674.1:c.3483_3485= | XM_011519674.1:c.3484_3485del |
| CCDC7 transcript variant X18 | XM_011519675.1:c.3465_3467= | XM_011519675.1:c.3466_3467del |
| CCDC7 transcript variant X19 | XM_006717505.1:c.3462_3464= | XM_006717505.1:c.3463_3464del |
| CCDC7 transcript variant X21 | XM_011519677.1:c.3453_3455= | XM_011519677.1:c.3454_3455del |
| CCDC7 transcript variant X20 | XM_011519676.1:c.3453_3455= | XM_011519676.1:c.3454_3455del |
| CCDC7 transcript variant X22 | XM_011519678.1:c.3450_3452= | XM_011519678.1:c.3451_3452del |
| CCDC7 transcript variant X23 | XM_006717506.1:c.3354_3356= | XM_006717506.1:c.3355_3356del |
| CCDC7 transcript variant X3 | XM_011519664.1:c.3675_3677= | XM_011519664.1:c.3676_3677del |
| CCDC7 transcript variant X24 | XM_047425746.1:c.3243_3245= | XM_047425746.1:c.3244_3245del |
| CCDC7 transcript variant X25 | XM_011519679.1:c.3144_3146= | XM_011519679.1:c.3145_3146del |
| CCDC7 transcript variant X29 | XM_017016643.1:c.2865_2867= | XM_017016643.1:c.2866_2867del |
| CCDC7 transcript variant X31 | XM_047425747.1:c.2760_2762= | XM_047425747.1:c.2761_2762del |
| CCDC7 transcript variant X38 | XM_047425748.1:c.2394_2396= | XM_047425748.1:c.2395_2396del |
| CCDC7 transcript variant X32 | XM_017016646.1:c.2760_2762= | XM_017016646.1:c.2761_2762del |
| CCDC7 transcript variant X36 | XM_017016648.1:c.2619_2621= | XM_017016648.1:c.2620_2621del |
| CCDC7 transcript variant X42 | XM_011519687.1:c.1884_1886= | XM_011519687.1:c.1885_1886del |
| uncharacterized protein C10orf68 isoform X26 | XP_011517982.1:p.Leu1005_Lys1006= | XP_011517982.1:p.Lys1006fs |
| uncharacterized protein C10orf68 isoform c | NP_001308044.1:p.Leu1225_Lys1226= | NP_001308044.1:p.Lys1226fs |
| uncharacterized protein C10orf68 isoform X26 | XP_016872131.1:p.Leu1005_Lys1006= | XP_016872131.1:p.Lys1006fs |
| uncharacterized protein C10orf68 isoform X25 | XP_016872130.1:p.Leu1038_Lys1039= | XP_016872130.1:p.Lys1039fs |
| uncharacterized protein C10orf68 isoform X30 | XP_011517985.1:p.Leu918_Lys919= | XP_011517985.1:p.Lys919fs |
| uncharacterized protein C10orf68 isoform X35 | XP_016872138.1:p.Leu798_Lys799= | XP_016872138.1:p.Lys799fs |
| uncharacterized protein C10orf68 isoform X37 | XP_016872141.1:p.Leu639_Lys640= | XP_016872141.1:p.Lys640fs |
| uncharacterized protein C10orf68 isoform X1 | XP_047281698.1:p.Leu1225_Lys1226= | XP_047281698.1:p.Lys1226fs |
| uncharacterized protein C10orf68 isoform c | NP_001381944.1:p.Leu1225_Lys1226= | NP_001381944.1:p.Lys1226fs |
| uncharacterized protein C10orf68 isoform X3 | XP_024303933.1:p.Leu1218_Lys1219= | XP_024303933.1:p.Lys1219fs |
| uncharacterized protein C10orf68 isoform X4 | XP_024303934.1:p.Leu1214_Lys1215= | XP_024303934.1:p.Lys1215fs |
| uncharacterized protein C10orf68 isoform X5 | XP_016872127.1:p.Leu1210_Lys1211= | XP_016872127.1:p.Lys1211fs |
| uncharacterized protein C10orf68 isoform X6 | XP_011517969.1:p.Leu1197_Lys1198= | XP_011517969.1:p.Lys1198fs |
| uncharacterized protein C10orf68 isoform X7 | XP_011517968.1:p.Leu1197_Lys1198= | XP_011517968.1:p.Lys1198fs |
| uncharacterized protein C10orf68 isoform X8 | XP_011517970.1:p.Leu1195_Lys1196= | XP_011517970.1:p.Lys1196fs |
| uncharacterized protein C10orf68 isoform X9 | XP_011517971.1:p.Leu1191_Lys1192= | XP_011517971.1:p.Lys1192fs |
| uncharacterized protein C10orf68 isoform X11 | XP_011517973.1:p.Leu1189_Lys1190= | XP_011517973.1:p.Lys1190fs |
| uncharacterized protein C10orf68 isoform X10 | XP_011517972.1:p.Leu1189_Lys1190= | XP_011517972.1:p.Lys1190fs |
| uncharacterized protein C10orf68 isoform X12 | XP_011517974.1:p.Leu1188_Lys1189= | XP_011517974.1:p.Lys1189fs |
| uncharacterized protein C10orf68 isoform X13 | XP_011517975.1:p.Leu1187_Lys1188= | XP_011517975.1:p.Lys1188fs |
| uncharacterized protein C10orf68 isoform X1 | XP_047281699.1:p.Leu1225_Lys1226= | XP_047281699.1:p.Lys1226fs |
| uncharacterized protein C10orf68 isoform X14 | XP_047281700.1:p.Leu1169_Lys1170= | XP_047281700.1:p.Lys1170fs |
| uncharacterized protein C10orf68 isoform X16 | XP_016872129.1:p.Leu1161_Lys1162= | XP_016872129.1:p.Lys1162fs |
| uncharacterized protein C10orf68 isoform X15 | XP_011517976.1:p.Leu1161_Lys1162= | XP_011517976.1:p.Lys1162fs |
| uncharacterized protein C10orf68 isoform X17 | XP_011517977.1:p.Leu1155_Lys1156= | XP_011517977.1:p.Lys1156fs |
| uncharacterized protein C10orf68 isoform X18 | XP_006717568.1:p.Leu1154_Lys1155= | XP_006717568.1:p.Lys1155fs |
| uncharacterized protein C10orf68 isoform X20 | XP_011517979.1:p.Leu1151_Lys1152= | XP_011517979.1:p.Lys1152fs |
| uncharacterized protein C10orf68 isoform X19 | XP_011517978.1:p.Leu1151_Lys1152= | XP_011517978.1:p.Lys1152fs |
| uncharacterized protein C10orf68 isoform X21 | XP_011517980.1:p.Leu1150_Lys1151= | XP_011517980.1:p.Lys1151fs |
| uncharacterized protein C10orf68 isoform X22 | XP_006717569.1:p.Leu1118_Lys1119= | XP_006717569.1:p.Lys1119fs |
| uncharacterized protein C10orf68 isoform X2 | XP_011517966.1:p.Leu1225_Lys1226= | XP_011517966.1:p.Lys1226fs |
| uncharacterized protein C10orf68 isoform X23 | XP_047281702.1:p.Leu1081_Lys1082= | XP_047281702.1:p.Lys1082fs |
| uncharacterized protein C10orf68 isoform X24 | XP_011517981.1:p.Leu1048_Lys1049= | XP_011517981.1:p.Lys1049fs |
| uncharacterized protein C10orf68 isoform X27 | XP_016872132.1:p.Leu955_Lys956= | XP_016872132.1:p.Lys956fs |
| uncharacterized protein C10orf68 isoform X29 | XP_047281703.1:p.Leu920_Lys921= | XP_047281703.1:p.Lys921fs |
| uncharacterized protein C10orf68 isoform X35 | XP_047281704.1:p.Leu798_Lys799= | XP_047281704.1:p.Lys799fs |
| uncharacterized protein C10orf68 isoform X29 | XP_016872135.1:p.Leu920_Lys921= | XP_016872135.1:p.Lys921fs |
| uncharacterized protein C10orf68 isoform X33 | XP_016872137.1:p.Leu873_Lys874= | XP_016872137.1:p.Lys874fs |
| uncharacterized protein C10orf68 isoform X38 | XP_011517989.1:p.Leu628_Lys629= | XP_011517989.1:p.Lys629fs |
| uncharacterized protein C10orf68 isoform b | NP_078964.2:p.Leu468_Lys469= | NP_078964.2:p.Lys469fs |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2738193387 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000010.10 - 33135374 | Jul 13, 2019 (153) |
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).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1482891109
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.