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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.

rs1485554948

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:56593617 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000007 (1/139974, GnomAD)
A=0.00000 (0/14038, ALFA)
G=0.00000 (0/14038, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CCDC66 : 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 14038 C=1.00000 A=0.00000, G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 A=0.0000, G=0.0000 1.0 0.0 0.0 N/A
African Sub 2886 C=1.0000 A=0.0000, G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
African American Sub 2772 C=1.0000 A=0.0000, G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000, G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=0.000, 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
gnomAD - Genomes Global Study-wide 139974 C=0.999993 A=0.000007
gnomAD - Genomes European Sub 75940 C=1.00000 A=0.00000
gnomAD - Genomes African Sub 41776 C=0.99998 A=0.00002
gnomAD - Genomes American Sub 13652 C=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14038 C=1.00000 A=0.00000, G=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000, G=0.0000
Allele Frequency Aggregator African Sub 2886 C=1.0000 A=0.0000, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, G=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 3 NC_000003.12:g.56593617C>A
GRCh38.p14 chr 3 NC_000003.12:g.56593617C>G
GRCh37.p13 chr 3 NC_000003.11:g.56627645C>A
GRCh37.p13 chr 3 NC_000003.11:g.56627645C>G
Gene: CCDC66, coiled-coil domain containing 66 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CCDC66 transcript variant 11 NM_001353154.1:c.1069-3C>A N/A Intron Variant
CCDC66 transcript variant 12 NM_001353155.1:c.1048-3C>A N/A Intron Variant
CCDC66 transcript variant 14 NM_001353158.1:c.172-3C>A N/A Intron Variant
CCDC66 transcript variant 4 NM_001353147.1:c.1195C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 3 NP_001340076.1:p.Gln399Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 4 NM_001353147.1:c.1195C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 3 NP_001340076.1:p.Gln399Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 5 NM_001353148.1:c.1195C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 4 NP_001340077.1:p.Gln399Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 5 NM_001353148.1:c.1195C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 4 NP_001340077.1:p.Gln399Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 6 NM_001353149.1:c.1174C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 5 NP_001340078.1:p.Gln392Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 6 NM_001353149.1:c.1174C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 5 NP_001340078.1:p.Gln392Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 7 NM_001353150.1:c.1126C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 6 NP_001340079.1:p.Gln376Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 7 NM_001353150.1:c.1126C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 6 NP_001340079.1:p.Gln376Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 8 NM_001353151.1:c.1096C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 7 NP_001340080.1:p.Gln366Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 8 NM_001353151.1:c.1096C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 7 NP_001340080.1:p.Gln366Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 2 NM_001012506.5:c.1093C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 2 NP_001012524.4:p.Gln365Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 2 NM_001012506.5:c.1093C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 2 NP_001012524.4:p.Gln365Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 9 NM_001353152.1:c.1093C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 2 NP_001340081.1:p.Gln365Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 9 NM_001353152.1:c.1093C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 2 NP_001340081.1:p.Gln365Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 10 NM_001353153.1:c.1093C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 2 NP_001340082.1:p.Gln365Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 10 NM_001353153.1:c.1093C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 2 NP_001340082.1:p.Gln365Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 13 NM_001353156.1:c.298C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 10 NP_001340085.1:p.Gln100Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 13 NM_001353156.1:c.298C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 10 NP_001340085.1:p.Gln100Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 15 NM_001353160.1:c.103C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 12 NP_001340089.1:p.Gln35Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 15 NM_001353160.1:c.103C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 12 NP_001340089.1:p.Gln35Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 1 NM_001141947.3:c.1195C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 1 NP_001135419.1:p.Gln399Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant 1 NM_001141947.3:c.1195C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform 1 NP_001135419.1:p.Gln399Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant 3 NR_024460.2:n.1263C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 3 NR_024460.2:n.1263C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 16 NR_148366.1:n.1282C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 16 NR_148366.1:n.1282C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 17 NR_148367.1:n.1282C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 17 NR_148367.1:n.1282C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 18 NR_148368.1:n.1282C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 18 NR_148368.1:n.1282C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 19 NR_148369.1:n.1261C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 19 NR_148369.1:n.1261C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 20 NR_148370.1:n.1263C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 20 NR_148370.1:n.1263C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 21 NR_148371.1:n.1472C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 21 NR_148371.1:n.1472C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 22 NR_148372.1:n.1334C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 22 NR_148372.1:n.1334C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 23 NR_148373.1:n.1353C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 23 NR_148373.1:n.1353C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 24 NR_148374.1:n.1355C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 24 NR_148374.1:n.1355C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 25 NR_148375.1:n.1329C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 25 NR_148375.1:n.1329C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 26 NR_148376.1:n.1235C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 26 NR_148376.1:n.1235C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 27 NR_148377.1:n.1263C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 27 NR_148377.1:n.1263C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant 28 NR_148378.1:n.1160C>A N/A Non Coding Transcript Variant
CCDC66 transcript variant 28 NR_148378.1:n.1160C>G N/A Non Coding Transcript Variant
CCDC66 transcript variant X6 XM_005265083.5:c.1069-3C>A N/A Intron Variant
CCDC66 transcript variant X7 XM_047448019.1:c.1048-3C>A N/A Intron Variant
CCDC66 transcript variant X11 XM_047448020.1:c.172-3C>A N/A Intron Variant
CCDC66 transcript variant X1 XM_005265082.5:c.1174C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X1 XP_005265139.1:p.Gln392Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X1 XM_005265082.5:c.1174C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X1 XP_005265139.1:p.Gln392Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X2 XM_011533615.3:c.1096C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X2 XP_011531917.1:p.Gln366Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X2 XM_011533615.3:c.1096C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X2 XP_011531917.1:p.Gln366Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X3 XM_011533616.4:c.1093C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X3 XP_011531918.1:p.Gln365Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X3 XM_011533616.4:c.1093C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X3 XP_011531918.1:p.Gln365Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X4 XM_047448017.1:c.1093C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X3 XP_047303973.1:p.Gln365Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X4 XM_047448017.1:c.1093C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X3 XP_047303973.1:p.Gln365Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X5 XM_047448018.1:c.1072C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X4 XP_047303974.1:p.Gln358Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X5 XM_047448018.1:c.1072C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X4 XP_047303974.1:p.Gln358Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X8 XM_024453462.2:c.1093C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X3 XP_024309230.1:p.Gln365Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X8 XM_024453462.2:c.1093C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X3 XP_024309230.1:p.Gln365Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X9 XM_024453464.2:c.595C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X7 XP_024309232.1:p.Gln199Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X9 XM_024453464.2:c.595C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X7 XP_024309232.1:p.Gln199Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X10 XM_017006239.2:c.298C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X8 XP_016861728.1:p.Gln100Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X10 XM_017006239.2:c.298C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X8 XP_016861728.1:p.Gln100Glu Q (Gln) > E (Glu) Missense Variant
CCDC66 transcript variant X12 XM_047448021.1:c.1195C>A Q [CAG] > K [AAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X10 XP_047303977.1:p.Gln399Lys Q (Gln) > K (Lys) Missense Variant
CCDC66 transcript variant X12 XM_047448021.1:c.1195C>G Q [CAG] > E [GAG] Coding Sequence Variant
coiled-coil domain-containing protein 66 isoform X10 XP_047303977.1:p.Gln399Glu Q (Gln) > E (Glu) 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 G
GRCh38.p14 chr 3 NC_000003.12:g.56593617= NC_000003.12:g.56593617C>A NC_000003.12:g.56593617C>G
GRCh37.p13 chr 3 NC_000003.11:g.56627645= NC_000003.11:g.56627645C>A NC_000003.11:g.56627645C>G
CCDC66 transcript variant X1 XM_005265082.5:c.1174= XM_005265082.5:c.1174C>A XM_005265082.5:c.1174C>G
CCDC66 transcript variant X1 XM_005265082.4:c.1174= XM_005265082.4:c.1174C>A XM_005265082.4:c.1174C>G
CCDC66 transcript variant X2 XM_005265082.3:c.1174= XM_005265082.3:c.1174C>A XM_005265082.3:c.1174C>G
CCDC66 transcript variant X2 XM_005265082.2:c.1174= XM_005265082.2:c.1174C>A XM_005265082.2:c.1174C>G
CCDC66 transcript variant X2 XM_005265082.1:c.1174= XM_005265082.1:c.1174C>A XM_005265082.1:c.1174C>G
CCDC66 transcript variant 2 NM_001012506.5:c.1093= NM_001012506.5:c.1093C>A NM_001012506.5:c.1093C>G
CCDC66 transcript variant 2 NM_001012506.4:c.1093= NM_001012506.4:c.1093C>A NM_001012506.4:c.1093C>G
CCDC66 transcript variant X3 XM_011533616.4:c.1093= XM_011533616.4:c.1093C>A XM_011533616.4:c.1093C>G
CCDC66 transcript variant X5 XM_011533616.3:c.1093= XM_011533616.3:c.1093C>A XM_011533616.3:c.1093C>G
CCDC66 transcript variant X7 XM_011533616.2:c.1093= XM_011533616.2:c.1093C>A XM_011533616.2:c.1093C>G
CCDC66 transcript variant X9 XM_011533616.1:c.1093= XM_011533616.1:c.1093C>A XM_011533616.1:c.1093C>G
CCDC66 transcript variant X2 XM_011533615.3:c.1096= XM_011533615.3:c.1096C>A XM_011533615.3:c.1096C>G
CCDC66 transcript variant X3 XM_011533615.2:c.1096= XM_011533615.2:c.1096C>A XM_011533615.2:c.1096C>G
CCDC66 transcript variant X8 XM_011533615.1:c.1096= XM_011533615.1:c.1096C>A XM_011533615.1:c.1096C>G
CCDC66 transcript variant 1 NM_001141947.3:c.1195= NM_001141947.3:c.1195C>A NM_001141947.3:c.1195C>G
CCDC66 transcript variant 1 NM_001141947.2:c.1195= NM_001141947.2:c.1195C>A NM_001141947.2:c.1195C>G
CCDC66 transcript variant 1 NM_001141947.1:c.1195= NM_001141947.1:c.1195C>A NM_001141947.1:c.1195C>G
CCDC66 transcript variant X8 XM_024453462.2:c.1093= XM_024453462.2:c.1093C>A XM_024453462.2:c.1093C>G
CCDC66 transcript variant X6 XM_024453462.1:c.1093= XM_024453462.1:c.1093C>A XM_024453462.1:c.1093C>G
CCDC66 transcript variant 3 NR_024460.2:n.1263= NR_024460.2:n.1263C>A NR_024460.2:n.1263C>G
CCDC66 transcript variant 3 NR_024460.1:n.1263= NR_024460.1:n.1263C>A NR_024460.1:n.1263C>G
CCDC66 transcript variant X9 XM_024453464.2:c.595= XM_024453464.2:c.595C>A XM_024453464.2:c.595C>G
CCDC66 transcript variant X11 XM_024453464.1:c.595= XM_024453464.1:c.595C>A XM_024453464.1:c.595C>G
CCDC66 transcript variant X10 XM_017006239.2:c.298= XM_017006239.2:c.298C>A XM_017006239.2:c.298C>G
CCDC66 transcript variant X18 XM_017006239.1:c.298= XM_017006239.1:c.298C>A XM_017006239.1:c.298C>G
CCDC66 transcript variant 21 NR_148371.1:n.1472= NR_148371.1:n.1472C>A NR_148371.1:n.1472C>G
CCDC66 transcript variant 24 NR_148374.1:n.1355= NR_148374.1:n.1355C>A NR_148374.1:n.1355C>G
CCDC66 transcript variant 23 NR_148373.1:n.1353= NR_148373.1:n.1353C>A NR_148373.1:n.1353C>G
CCDC66 transcript variant X4 XM_047448017.1:c.1093= XM_047448017.1:c.1093C>A XM_047448017.1:c.1093C>G
CCDC66 transcript variant 15 NM_001353160.1:c.103= NM_001353160.1:c.103C>A NM_001353160.1:c.103C>G
CCDC66 transcript variant 22 NR_148372.1:n.1334= NR_148372.1:n.1334C>A NR_148372.1:n.1334C>G
CCDC66 transcript variant X5 XM_047448018.1:c.1072= XM_047448018.1:c.1072C>A XM_047448018.1:c.1072C>G
CCDC66 transcript variant 9 NM_001353152.1:c.1093= NM_001353152.1:c.1093C>A NM_001353152.1:c.1093C>G
CCDC66 transcript variant 17 NR_148367.1:n.1282= NR_148367.1:n.1282C>A NR_148367.1:n.1282C>G
CCDC66 transcript variant 16 NR_148366.1:n.1282= NR_148366.1:n.1282C>A NR_148366.1:n.1282C>G
CCDC66 transcript variant 13 NM_001353156.1:c.298= NM_001353156.1:c.298C>A NM_001353156.1:c.298C>G
CCDC66 transcript variant 26 NR_148376.1:n.1235= NR_148376.1:n.1235C>A NR_148376.1:n.1235C>G
CCDC66 transcript variant 25 NR_148375.1:n.1329= NR_148375.1:n.1329C>A NR_148375.1:n.1329C>G
CCDC66 transcript variant 18 NR_148368.1:n.1282= NR_148368.1:n.1282C>A NR_148368.1:n.1282C>G
CCDC66 transcript variant 4 NM_001353147.1:c.1195= NM_001353147.1:c.1195C>A NM_001353147.1:c.1195C>G
CCDC66 transcript variant 27 NR_148377.1:n.1263= NR_148377.1:n.1263C>A NR_148377.1:n.1263C>G
CCDC66 transcript variant 10 NM_001353153.1:c.1093= NM_001353153.1:c.1093C>A NM_001353153.1:c.1093C>G
CCDC66 transcript variant 20 NR_148370.1:n.1263= NR_148370.1:n.1263C>A NR_148370.1:n.1263C>G
CCDC66 transcript variant 19 NR_148369.1:n.1261= NR_148369.1:n.1261C>A NR_148369.1:n.1261C>G
CCDC66 transcript variant 5 NM_001353148.1:c.1195= NM_001353148.1:c.1195C>A NM_001353148.1:c.1195C>G
CCDC66 transcript variant 2 NM_001139489.1:c.1093= NM_001139489.1:c.1093C>A NM_001139489.1:c.1093C>G
CCDC66 transcript variant 6 NM_001353149.1:c.1174= NM_001353149.1:c.1174C>A NM_001353149.1:c.1174C>G
CCDC66 transcript variant 8 NM_001353151.1:c.1096= NM_001353151.1:c.1096C>A NM_001353151.1:c.1096C>G
CCDC66 transcript variant 7 NM_001353150.1:c.1126= NM_001353150.1:c.1126C>A NM_001353150.1:c.1126C>G
CCDC66 transcript variant 28 NR_148378.1:n.1160= NR_148378.1:n.1160C>A NR_148378.1:n.1160C>G
CCDC66 transcript variant X12 XM_047448021.1:c.1195= XM_047448021.1:c.1195C>A XM_047448021.1:c.1195C>G
coiled-coil domain-containing protein 66 isoform X1 XP_005265139.1:p.Gln392= XP_005265139.1:p.Gln392Lys XP_005265139.1:p.Gln392Glu
coiled-coil domain-containing protein 66 isoform 2 NP_001012524.4:p.Gln365= NP_001012524.4:p.Gln365Lys NP_001012524.4:p.Gln365Glu
coiled-coil domain-containing protein 66 isoform X3 XP_011531918.1:p.Gln365= XP_011531918.1:p.Gln365Lys XP_011531918.1:p.Gln365Glu
coiled-coil domain-containing protein 66 isoform X2 XP_011531917.1:p.Gln366= XP_011531917.1:p.Gln366Lys XP_011531917.1:p.Gln366Glu
coiled-coil domain-containing protein 66 isoform 1 NP_001135419.1:p.Gln399= NP_001135419.1:p.Gln399Lys NP_001135419.1:p.Gln399Glu
coiled-coil domain-containing protein 66 isoform X3 XP_024309230.1:p.Gln365= XP_024309230.1:p.Gln365Lys XP_024309230.1:p.Gln365Glu
coiled-coil domain-containing protein 66 isoform X7 XP_024309232.1:p.Gln199= XP_024309232.1:p.Gln199Lys XP_024309232.1:p.Gln199Glu
coiled-coil domain-containing protein 66 isoform X8 XP_016861728.1:p.Gln100= XP_016861728.1:p.Gln100Lys XP_016861728.1:p.Gln100Glu
coiled-coil domain-containing protein 66 isoform X3 XP_047303973.1:p.Gln365= XP_047303973.1:p.Gln365Lys XP_047303973.1:p.Gln365Glu
coiled-coil domain-containing protein 66 isoform 12 NP_001340089.1:p.Gln35= NP_001340089.1:p.Gln35Lys NP_001340089.1:p.Gln35Glu
coiled-coil domain-containing protein 66 isoform X4 XP_047303974.1:p.Gln358= XP_047303974.1:p.Gln358Lys XP_047303974.1:p.Gln358Glu
coiled-coil domain-containing protein 66 isoform 2 NP_001340081.1:p.Gln365= NP_001340081.1:p.Gln365Lys NP_001340081.1:p.Gln365Glu
coiled-coil domain-containing protein 66 isoform 10 NP_001340085.1:p.Gln100= NP_001340085.1:p.Gln100Lys NP_001340085.1:p.Gln100Glu
coiled-coil domain-containing protein 66 isoform 3 NP_001340076.1:p.Gln399= NP_001340076.1:p.Gln399Lys NP_001340076.1:p.Gln399Glu
coiled-coil domain-containing protein 66 isoform 2 NP_001340082.1:p.Gln365= NP_001340082.1:p.Gln365Lys NP_001340082.1:p.Gln365Glu
coiled-coil domain-containing protein 66 isoform 4 NP_001340077.1:p.Gln399= NP_001340077.1:p.Gln399Lys NP_001340077.1:p.Gln399Glu
coiled-coil domain-containing protein 66 isoform 5 NP_001340078.1:p.Gln392= NP_001340078.1:p.Gln392Lys NP_001340078.1:p.Gln392Glu
coiled-coil domain-containing protein 66 isoform 7 NP_001340080.1:p.Gln366= NP_001340080.1:p.Gln366Lys NP_001340080.1:p.Gln366Glu
coiled-coil domain-containing protein 66 isoform 6 NP_001340079.1:p.Gln376= NP_001340079.1:p.Gln376Lys NP_001340079.1:p.Gln376Glu
coiled-coil domain-containing protein 66 isoform X10 XP_047303977.1:p.Gln399= XP_047303977.1:p.Gln399Lys XP_047303977.1:p.Gln399Glu
CCDC66 transcript variant 11 NM_001353154.1:c.1069-3= NM_001353154.1:c.1069-3C>A NM_001353154.1:c.1069-3C>G
CCDC66 transcript variant 12 NM_001353155.1:c.1048-3= NM_001353155.1:c.1048-3C>A NM_001353155.1:c.1048-3C>G
CCDC66 transcript variant 14 NM_001353158.1:c.172-3= NM_001353158.1:c.172-3C>A NM_001353158.1:c.172-3C>G
CCDC66 transcript variant X3 XM_005265083.1:c.1069-3= XM_005265083.1:c.1069-3C>A XM_005265083.1:c.1069-3C>G
CCDC66 transcript variant X6 XM_005265083.5:c.1069-3= XM_005265083.5:c.1069-3C>A XM_005265083.5:c.1069-3C>G
CCDC66 transcript variant X7 XM_047448019.1:c.1048-3= XM_047448019.1:c.1048-3C>A XM_047448019.1:c.1048-3C>G
CCDC66 transcript variant X11 XM_047448020.1:c.172-3= XM_047448020.1:c.172-3C>A XM_047448020.1:c.172-3C>G
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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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2747034463 Nov 08, 2017 (151)
2 GNOMAD ss2793217045 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000003.12 - 56593617 Apr 27, 2021 (155)
4 ALFA NC_000003.12 - 56593617 Apr 27, 2021 (155)
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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
ss2747034463, ss2793217045 NC_000003.11:56627644:C:A NC_000003.12:56593616:C:A (self)
108472469, 11561074935 NC_000003.12:56593616:C:A NC_000003.12:56593616:C:A (self)
11561074935 NC_000003.12:56593616:C:G NC_000003.12:56593616:C:G (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 rs1485554948

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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
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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