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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.

rs1468295387

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:69282925 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CCDC125 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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").

None
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 5 NC_000005.10:g.69282925G>A
GRCh38.p14 chr 5 NC_000005.10:g.69282925G>C
GRCh37.p13 chr 5 NC_000005.9:g.68578752G>A
GRCh37.p13 chr 5 NC_000005.9:g.68578752G>C
GRCh38.p14 chr 5 alt locus HSCHR5_2_CTG1_1 NW_003315917.2:g.66101G>A
GRCh38.p14 chr 5 alt locus HSCHR5_2_CTG1_1 NW_003315917.2:g.66101G>C
Gene: CCDC125, coiled-coil domain containing 125 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CCDC125 transcript variant 2 NM_001297696.2:c.*115= N/A 3 Prime UTR Variant
CCDC125 transcript variant 1 NM_176816.5:c.1340C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform 1 NP_789786.2:p.Pro447Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant 1 NM_176816.5:c.1340C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform 1 NP_789786.2:p.Pro447Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant 3 NM_001297697.2:c.965C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform 3 NP_001284626.1:p.Pro322Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant 3 NM_001297697.2:c.965C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform 3 NP_001284626.1:p.Pro322Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X29 XM_011543260.3:c. N/A Genic Downstream Transcript Variant
CCDC125 transcript variant X1 XM_005248458.6:c.1340C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X1 XP_005248515.1:p.Pro447Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X1 XM_005248458.6:c.1340C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X1 XP_005248515.1:p.Pro447Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X2 XM_011543255.4:c.1340C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X1 XP_011541557.1:p.Pro447Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X2 XM_011543255.4:c.1340C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X1 XP_011541557.1:p.Pro447Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X3 XM_011543256.4:c.1340C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X1 XP_011541558.1:p.Pro447Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X3 XM_011543256.4:c.1340C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X1 XP_011541558.1:p.Pro447Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X4 XM_017009206.3:c.1337C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X2 XP_016864695.1:p.Pro446Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X4 XM_017009206.3:c.1337C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X2 XP_016864695.1:p.Pro446Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X5 XM_005248459.6:c.1337C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X2 XP_005248516.1:p.Pro446Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X5 XM_005248459.6:c.1337C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X2 XP_005248516.1:p.Pro446Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X6 XM_024454396.2:c.1337C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X2 XP_024310164.1:p.Pro446Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X6 XM_024454396.2:c.1337C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X2 XP_024310164.1:p.Pro446Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X7 XM_047416893.1:c.1325C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X3 XP_047272849.1:p.Pro442Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X7 XM_047416893.1:c.1325C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X3 XP_047272849.1:p.Pro442Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X8 XM_047416894.1:c.1322C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X4 XP_047272850.1:p.Pro441Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X8 XM_047416894.1:c.1322C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X4 XP_047272850.1:p.Pro441Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X9 XM_047416895.1:c.1322C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X4 XP_047272851.1:p.Pro441Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X9 XM_047416895.1:c.1322C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X4 XP_047272851.1:p.Pro441Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X10 XM_047416896.1:c.1232C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X5 XP_047272852.1:p.Pro411Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X10 XM_047416896.1:c.1232C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X5 XP_047272852.1:p.Pro411Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X11 XM_047416897.1:c.1229C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X6 XP_047272853.1:p.Pro410Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X11 XM_047416897.1:c.1229C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X6 XP_047272853.1:p.Pro410Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X12 XM_011543258.3:c.1340C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X7 XP_011541560.1:p.Pro447Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X12 XM_011543258.3:c.1340C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X7 XP_011541560.1:p.Pro447Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X13 XM_011543259.3:c.1340C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X8 XP_011541561.1:p.Pro447Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X13 XM_011543259.3:c.1340C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X8 XP_011541561.1:p.Pro447Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X14 XM_047416898.1:c.1337C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X9 XP_047272854.1:p.Pro446Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X14 XM_047416898.1:c.1337C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X9 XP_047272854.1:p.Pro446Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X15 XM_047416899.1:c.1337C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X9 XP_047272855.1:p.Pro446Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X15 XM_047416899.1:c.1337C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X9 XP_047272855.1:p.Pro446Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X16 XM_017009207.2:c.1325C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X10 XP_016864696.1:p.Pro442Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X16 XM_017009207.2:c.1325C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X10 XP_016864696.1:p.Pro442Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X17 XM_047416900.1:c.1322C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X11 XP_047272856.1:p.Pro441Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X17 XM_047416900.1:c.1322C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X11 XP_047272856.1:p.Pro441Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X18 XM_047416901.1:c.1322C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X11 XP_047272857.1:p.Pro441Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X18 XM_047416901.1:c.1322C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X11 XP_047272857.1:p.Pro441Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X19 XM_047416902.1:c.1121C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X12 XP_047272858.1:p.Pro374Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X19 XM_047416902.1:c.1121C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X12 XP_047272858.1:p.Pro374Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X20 XM_047416903.1:c.1121C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X12 XP_047272859.1:p.Pro374Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X20 XM_047416903.1:c.1121C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X12 XP_047272859.1:p.Pro374Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X21 XM_047416904.1:c.1109C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X13 XP_047272860.1:p.Pro370Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X21 XM_047416904.1:c.1109C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X13 XP_047272860.1:p.Pro370Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X22 XM_006714570.5:c.1109C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X13 XP_006714633.1:p.Pro370Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X22 XM_006714570.5:c.1109C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X13 XP_006714633.1:p.Pro370Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X23 XM_047416905.1:c.1106C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X14 XP_047272861.1:p.Pro369Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X23 XM_047416905.1:c.1106C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X14 XP_047272861.1:p.Pro369Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X24 XM_047416906.1:c.1106C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X14 XP_047272862.1:p.Pro369Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X24 XM_047416906.1:c.1106C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X14 XP_047272862.1:p.Pro369Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X25 XM_047416907.1:c.1094C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X15 XP_047272863.1:p.Pro365Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X25 XM_047416907.1:c.1094C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X15 XP_047272863.1:p.Pro365Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X26 XM_005248461.5:c.1070C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X16 XP_005248518.1:p.Pro357Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X26 XM_005248461.5:c.1070C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X16 XP_005248518.1:p.Pro357Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X27 XM_047416908.1:c.1121C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X17 XP_047272864.1:p.Pro374Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X27 XM_047416908.1:c.1121C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X17 XP_047272864.1:p.Pro374Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X28 XM_005248463.5:c.965C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X18 XP_005248520.1:p.Pro322Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X28 XM_005248463.5:c.965C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X18 XP_005248520.1:p.Pro322Arg P (Pro) > R (Arg) Missense Variant
CCDC125 transcript variant X30 XM_017009211.3:c.647C>T P [CCT] > L [CTT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X20 XP_016864700.1:p.Pro216Leu P (Pro) > L (Leu) Missense Variant
CCDC125 transcript variant X30 XM_017009211.3:c.647C>G P [CCT] > R [CGT] Coding Sequence Variant
coiled-coil domain-containing protein 125 isoform X20 XP_016864700.1:p.Pro216Arg P (Pro) > R (Arg) 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 G= A C
GRCh38.p14 chr 5 NC_000005.10:g.69282925= NC_000005.10:g.69282925G>A NC_000005.10:g.69282925G>C
GRCh37.p13 chr 5 NC_000005.9:g.68578752= NC_000005.9:g.68578752G>A NC_000005.9:g.68578752G>C
GRCh38.p14 chr 5 alt locus HSCHR5_2_CTG1_1 NW_003315917.2:g.66101= NW_003315917.2:g.66101G>A NW_003315917.2:g.66101G>C
CCDC125 transcript variant X5 XM_005248459.6:c.1337= XM_005248459.6:c.1337C>T XM_005248459.6:c.1337C>G
CCDC125 transcript variant X5 XM_005248459.5:c.1337= XM_005248459.5:c.1337C>T XM_005248459.5:c.1337C>G
CCDC125 transcript variant X4 XM_005248459.4:c.1337= XM_005248459.4:c.1337C>T XM_005248459.4:c.1337C>G
CCDC125 transcript variant X4 XM_005248459.3:c.1337= XM_005248459.3:c.1337C>T XM_005248459.3:c.1337C>G
CCDC125 transcript variant X3 XM_005248459.2:c.1337= XM_005248459.2:c.1337C>T XM_005248459.2:c.1337C>G
CCDC125 transcript variant X3 XM_005248459.1:c.1337= XM_005248459.1:c.1337C>T XM_005248459.1:c.1337C>G
CCDC125 transcript variant X1 XM_005248458.6:c.1340= XM_005248458.6:c.1340C>T XM_005248458.6:c.1340C>G
CCDC125 transcript variant X1 XM_005248458.5:c.1340= XM_005248458.5:c.1340C>T XM_005248458.5:c.1340C>G
CCDC125 transcript variant X1 XM_005248458.4:c.1340= XM_005248458.4:c.1340C>T XM_005248458.4:c.1340C>G
CCDC125 transcript variant X1 XM_005248458.3:c.1340= XM_005248458.3:c.1340C>T XM_005248458.3:c.1340C>G
CCDC125 transcript variant X2 XM_005248458.2:c.1340= XM_005248458.2:c.1340C>T XM_005248458.2:c.1340C>G
CCDC125 transcript variant X2 XM_005248458.1:c.1340= XM_005248458.1:c.1340C>T XM_005248458.1:c.1340C>G
CCDC125 transcript variant 1 NM_176816.5:c.1340= NM_176816.5:c.1340C>T NM_176816.5:c.1340C>G
CCDC125 transcript variant 1 NM_176816.4:c.1340= NM_176816.4:c.1340C>T NM_176816.4:c.1340C>G
CCDC125 transcript NM_176816.3:c.1340= NM_176816.3:c.1340C>T NM_176816.3:c.1340C>G
CCDC125 transcript variant X22 XM_006714570.5:c.1109= XM_006714570.5:c.1109C>T XM_006714570.5:c.1109C>G
CCDC125 transcript variant X13 XM_006714570.4:c.1109= XM_006714570.4:c.1109C>T XM_006714570.4:c.1109C>G
CCDC125 transcript variant X12 XM_006714570.3:c.1109= XM_006714570.3:c.1109C>T XM_006714570.3:c.1109C>G
CCDC125 transcript variant X9 XM_006714570.2:c.1109= XM_006714570.2:c.1109C>T XM_006714570.2:c.1109C>G
CCDC125 transcript variant X11 XM_006714570.1:c.1109= XM_006714570.1:c.1109C>T XM_006714570.1:c.1109C>G
CCDC125 transcript variant X26 XM_005248461.5:c.1070= XM_005248461.5:c.1070C>T XM_005248461.5:c.1070C>G
CCDC125 transcript variant X14 XM_005248461.4:c.1070= XM_005248461.4:c.1070C>T XM_005248461.4:c.1070C>G
CCDC125 transcript variant X13 XM_005248461.3:c.1070= XM_005248461.3:c.1070C>T XM_005248461.3:c.1070C>G
CCDC125 transcript variant X10 XM_005248461.2:c.1070= XM_005248461.2:c.1070C>T XM_005248461.2:c.1070C>G
CCDC125 transcript variant X5 XM_005248461.1:c.1070= XM_005248461.1:c.1070C>T XM_005248461.1:c.1070C>G
CCDC125 transcript variant X28 XM_005248463.5:c.965= XM_005248463.5:c.965C>T XM_005248463.5:c.965C>G
CCDC125 transcript variant X15 XM_005248463.4:c.965= XM_005248463.4:c.965C>T XM_005248463.4:c.965C>G
CCDC125 transcript variant X14 XM_005248463.3:c.965= XM_005248463.3:c.965C>T XM_005248463.3:c.965C>G
CCDC125 transcript variant X11 XM_005248463.2:c.965= XM_005248463.2:c.965C>T XM_005248463.2:c.965C>G
CCDC125 transcript variant X7 XM_005248463.1:c.965= XM_005248463.1:c.965C>T XM_005248463.1:c.965C>G
CCDC125 transcript variant X2 XM_011543255.4:c.1340= XM_011543255.4:c.1340C>T XM_011543255.4:c.1340C>G
CCDC125 transcript variant X2 XM_011543255.3:c.1340= XM_011543255.3:c.1340C>T XM_011543255.3:c.1340C>G
CCDC125 transcript variant X2 XM_011543255.2:c.1340= XM_011543255.2:c.1340C>T XM_011543255.2:c.1340C>G
CCDC125 transcript variant X2 XM_011543255.1:c.1340= XM_011543255.1:c.1340C>T XM_011543255.1:c.1340C>G
CCDC125 transcript variant X3 XM_011543256.4:c.1340= XM_011543256.4:c.1340C>T XM_011543256.4:c.1340C>G
CCDC125 transcript variant X3 XM_011543256.3:c.1340= XM_011543256.3:c.1340C>T XM_011543256.3:c.1340C>G
CCDC125 transcript variant X3 XM_011543256.2:c.1340= XM_011543256.2:c.1340C>T XM_011543256.2:c.1340C>G
CCDC125 transcript variant X3 XM_011543256.1:c.1340= XM_011543256.1:c.1340C>T XM_011543256.1:c.1340C>G
CCDC125 transcript variant X4 XM_017009206.3:c.1337= XM_017009206.3:c.1337C>T XM_017009206.3:c.1337C>G
CCDC125 transcript variant X4 XM_017009206.2:c.1337= XM_017009206.2:c.1337C>T XM_017009206.2:c.1337C>G
CCDC125 transcript variant X5 XM_017009206.1:c.1337= XM_017009206.1:c.1337C>T XM_017009206.1:c.1337C>G
CCDC125 transcript variant X30 XM_017009211.3:c.647= XM_017009211.3:c.647C>T XM_017009211.3:c.647C>G
CCDC125 transcript variant X22 XM_017009211.2:c.647= XM_017009211.2:c.647C>T XM_017009211.2:c.647C>G
CCDC125 transcript variant X20 XM_017009211.1:c.647= XM_017009211.1:c.647C>T XM_017009211.1:c.647C>G
CCDC125 transcript variant X13 XM_011543259.3:c.1340= XM_011543259.3:c.1340C>T XM_011543259.3:c.1340C>G
CCDC125 transcript variant X10 XM_011543259.2:c.1340= XM_011543259.2:c.1340C>T XM_011543259.2:c.1340C>G
CCDC125 transcript variant X8 XM_011543259.1:c.1340= XM_011543259.1:c.1340C>T XM_011543259.1:c.1340C>G
CCDC125 transcript variant X12 XM_011543258.3:c.1340= XM_011543258.3:c.1340C>T XM_011543258.3:c.1340C>G
CCDC125 transcript variant X9 XM_011543258.2:c.1340= XM_011543258.2:c.1340C>T XM_011543258.2:c.1340C>G
CCDC125 transcript variant X7 XM_011543258.1:c.1340= XM_011543258.1:c.1340C>T XM_011543258.1:c.1340C>G
CCDC125 transcript variant X6 XM_024454396.2:c.1337= XM_024454396.2:c.1337C>T XM_024454396.2:c.1337C>G
CCDC125 transcript variant X6 XM_024454396.1:c.1337= XM_024454396.1:c.1337C>T XM_024454396.1:c.1337C>G
CCDC125 transcript variant 3 NM_001297697.2:c.965= NM_001297697.2:c.965C>T NM_001297697.2:c.965C>G
CCDC125 transcript variant 3 NM_001297697.1:c.965= NM_001297697.1:c.965C>T NM_001297697.1:c.965C>G
CCDC125 transcript variant 2 NM_001297696.2:c.*115= NM_001297696.2:c.*115C>T NM_001297696.2:c.*115C>G
CCDC125 transcript variant 2 NM_001297696.1:c.*115= NM_001297696.1:c.*115C>T NM_001297696.1:c.*115C>G
CCDC125 transcript variant X16 XM_017009207.2:c.1325= XM_017009207.2:c.1325C>T XM_017009207.2:c.1325C>G
CCDC125 transcript variant X11 XM_017009207.1:c.1325= XM_017009207.1:c.1325C>T XM_017009207.1:c.1325C>G
CCDC125 transcript variant X20 XM_047416903.1:c.1121= XM_047416903.1:c.1121C>T XM_047416903.1:c.1121C>G
CCDC125 transcript variant X23 XM_047416905.1:c.1106= XM_047416905.1:c.1106C>T XM_047416905.1:c.1106C>G
CCDC125 transcript variant X7 XM_047416893.1:c.1325= XM_047416893.1:c.1325C>T XM_047416893.1:c.1325C>G
CCDC125 transcript variant X9 XM_047416895.1:c.1322= XM_047416895.1:c.1322C>T XM_047416895.1:c.1322C>G
CCDC125 transcript variant X19 XM_047416902.1:c.1121= XM_047416902.1:c.1121C>T XM_047416902.1:c.1121C>G
CCDC125 transcript variant X24 XM_047416906.1:c.1106= XM_047416906.1:c.1106C>T XM_047416906.1:c.1106C>G
CCDC125 transcript variant X10 XM_047416896.1:c.1232= XM_047416896.1:c.1232C>T XM_047416896.1:c.1232C>G
CCDC125 transcript variant X11 XM_047416897.1:c.1229= XM_047416897.1:c.1229C>T XM_047416897.1:c.1229C>G
CCDC125 transcript variant X21 XM_047416904.1:c.1109= XM_047416904.1:c.1109C>T XM_047416904.1:c.1109C>G
CCDC125 transcript variant X25 XM_047416907.1:c.1094= XM_047416907.1:c.1094C>T XM_047416907.1:c.1094C>G
CCDC125 transcript variant X14 XM_047416898.1:c.1337= XM_047416898.1:c.1337C>T XM_047416898.1:c.1337C>G
CCDC125 transcript variant X17 XM_047416900.1:c.1322= XM_047416900.1:c.1322C>T XM_047416900.1:c.1322C>G
CCDC125 transcript variant X15 XM_047416899.1:c.1337= XM_047416899.1:c.1337C>T XM_047416899.1:c.1337C>G
CCDC125 transcript variant X18 XM_047416901.1:c.1322= XM_047416901.1:c.1322C>T XM_047416901.1:c.1322C>G
CCDC125 transcript variant X27 XM_047416908.1:c.1121= XM_047416908.1:c.1121C>T XM_047416908.1:c.1121C>G
CCDC125 transcript variant X8 XM_047416894.1:c.1322= XM_047416894.1:c.1322C>T XM_047416894.1:c.1322C>G
coiled-coil domain-containing protein 125 isoform X2 XP_005248516.1:p.Pro446= XP_005248516.1:p.Pro446Leu XP_005248516.1:p.Pro446Arg
coiled-coil domain-containing protein 125 isoform X1 XP_005248515.1:p.Pro447= XP_005248515.1:p.Pro447Leu XP_005248515.1:p.Pro447Arg
coiled-coil domain-containing protein 125 isoform 1 NP_789786.2:p.Pro447= NP_789786.2:p.Pro447Leu NP_789786.2:p.Pro447Arg
coiled-coil domain-containing protein 125 isoform X13 XP_006714633.1:p.Pro370= XP_006714633.1:p.Pro370Leu XP_006714633.1:p.Pro370Arg
coiled-coil domain-containing protein 125 isoform X16 XP_005248518.1:p.Pro357= XP_005248518.1:p.Pro357Leu XP_005248518.1:p.Pro357Arg
coiled-coil domain-containing protein 125 isoform X18 XP_005248520.1:p.Pro322= XP_005248520.1:p.Pro322Leu XP_005248520.1:p.Pro322Arg
coiled-coil domain-containing protein 125 isoform X1 XP_011541557.1:p.Pro447= XP_011541557.1:p.Pro447Leu XP_011541557.1:p.Pro447Arg
coiled-coil domain-containing protein 125 isoform X1 XP_011541558.1:p.Pro447= XP_011541558.1:p.Pro447Leu XP_011541558.1:p.Pro447Arg
coiled-coil domain-containing protein 125 isoform X2 XP_016864695.1:p.Pro446= XP_016864695.1:p.Pro446Leu XP_016864695.1:p.Pro446Arg
coiled-coil domain-containing protein 125 isoform X20 XP_016864700.1:p.Pro216= XP_016864700.1:p.Pro216Leu XP_016864700.1:p.Pro216Arg
coiled-coil domain-containing protein 125 isoform X8 XP_011541561.1:p.Pro447= XP_011541561.1:p.Pro447Leu XP_011541561.1:p.Pro447Arg
coiled-coil domain-containing protein 125 isoform X7 XP_011541560.1:p.Pro447= XP_011541560.1:p.Pro447Leu XP_011541560.1:p.Pro447Arg
coiled-coil domain-containing protein 125 isoform X2 XP_024310164.1:p.Pro446= XP_024310164.1:p.Pro446Leu XP_024310164.1:p.Pro446Arg
coiled-coil domain-containing protein 125 isoform 3 NP_001284626.1:p.Pro322= NP_001284626.1:p.Pro322Leu NP_001284626.1:p.Pro322Arg
coiled-coil domain-containing protein 125 isoform X10 XP_016864696.1:p.Pro442= XP_016864696.1:p.Pro442Leu XP_016864696.1:p.Pro442Arg
coiled-coil domain-containing protein 125 isoform X12 XP_047272859.1:p.Pro374= XP_047272859.1:p.Pro374Leu XP_047272859.1:p.Pro374Arg
coiled-coil domain-containing protein 125 isoform X14 XP_047272861.1:p.Pro369= XP_047272861.1:p.Pro369Leu XP_047272861.1:p.Pro369Arg
coiled-coil domain-containing protein 125 isoform X3 XP_047272849.1:p.Pro442= XP_047272849.1:p.Pro442Leu XP_047272849.1:p.Pro442Arg
coiled-coil domain-containing protein 125 isoform X4 XP_047272851.1:p.Pro441= XP_047272851.1:p.Pro441Leu XP_047272851.1:p.Pro441Arg
coiled-coil domain-containing protein 125 isoform X12 XP_047272858.1:p.Pro374= XP_047272858.1:p.Pro374Leu XP_047272858.1:p.Pro374Arg
coiled-coil domain-containing protein 125 isoform X14 XP_047272862.1:p.Pro369= XP_047272862.1:p.Pro369Leu XP_047272862.1:p.Pro369Arg
coiled-coil domain-containing protein 125 isoform X5 XP_047272852.1:p.Pro411= XP_047272852.1:p.Pro411Leu XP_047272852.1:p.Pro411Arg
coiled-coil domain-containing protein 125 isoform X6 XP_047272853.1:p.Pro410= XP_047272853.1:p.Pro410Leu XP_047272853.1:p.Pro410Arg
coiled-coil domain-containing protein 125 isoform X13 XP_047272860.1:p.Pro370= XP_047272860.1:p.Pro370Leu XP_047272860.1:p.Pro370Arg
coiled-coil domain-containing protein 125 isoform X15 XP_047272863.1:p.Pro365= XP_047272863.1:p.Pro365Leu XP_047272863.1:p.Pro365Arg
coiled-coil domain-containing protein 125 isoform X9 XP_047272854.1:p.Pro446= XP_047272854.1:p.Pro446Leu XP_047272854.1:p.Pro446Arg
coiled-coil domain-containing protein 125 isoform X11 XP_047272856.1:p.Pro441= XP_047272856.1:p.Pro441Leu XP_047272856.1:p.Pro441Arg
coiled-coil domain-containing protein 125 isoform X9 XP_047272855.1:p.Pro446= XP_047272855.1:p.Pro446Leu XP_047272855.1:p.Pro446Arg
coiled-coil domain-containing protein 125 isoform X11 XP_047272857.1:p.Pro441= XP_047272857.1:p.Pro441Leu XP_047272857.1:p.Pro441Arg
coiled-coil domain-containing protein 125 isoform X17 XP_047272864.1:p.Pro374= XP_047272864.1:p.Pro374Leu XP_047272864.1:p.Pro374Arg
coiled-coil domain-containing protein 125 isoform X4 XP_047272850.1:p.Pro441= XP_047272850.1:p.Pro441Leu XP_047272850.1:p.Pro441Arg
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 ss2735042248 Nov 08, 2017 (151)
2 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4161416 (NC_000005.9:68578751:G:G 251289/251290, NC_000005.9:68578751:G:A 1/251290)
Row 4161417 (NC_000005.9:68578751:G:G 251289/251290, NC_000005.9:68578751:G:C 1/251290)

- Jul 13, 2019 (153)
3 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4161416 (NC_000005.9:68578751:G:G 251289/251290, NC_000005.9:68578751:G:A 1/251290)
Row 4161417 (NC_000005.9:68578751:G:G 251289/251290, NC_000005.9:68578751:G:C 1/251290)

- Jul 13, 2019 (153)
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
ss2735042248 NC_000005.9:68578751:G:A NC_000005.10:69282924:G:A (self)
ss2735042248 NC_000005.9:68578751:G:C NC_000005.10:69282924:G:C (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 rs1468295387

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