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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.

rs1473668004

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:47595994 (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
A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/245606, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SPIDR : Synonymous 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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 245606 A=0.999996 T=0.000004
gnomAD - Exomes European Sub 133702 A=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 47410 A=1.00000 T=0.00000
gnomAD - Exomes American Sub 33254 A=1.00000 T=0.00000
gnomAD - Exomes African Sub 15380 A=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9888 A=1.0000 T=0.0000
gnomAD - Exomes Other Sub 5972 A=1.0000 T=0.0000
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 8 NC_000008.11:g.47595994A>T
GRCh37.p13 chr 8 NC_000008.10:g.48508556A>T
Gene: SPIDR, scaffold protein involved in DNA repair (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SPIDR transcript variant 33 NM_001352959.1:c. N/A Genic Upstream Transcript Variant
SPIDR transcript variant 34 NM_001352960.1:c. N/A Genic Upstream Transcript Variant
SPIDR transcript variant 2 NM_001282916.1:c.1071A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 2 NP_001269845.1:p.Ser357= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 3 NM_001282919.1:c.1101A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 3 NP_001269848.1:p.Ser367= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 22 NM_001352947.1:c.531A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 18 NP_001339876.1:p.Ser177= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 6 NM_001352932.1:c.1161A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 5 NP_001339861.1:p.Ser387= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 12 NM_001352937.1:c.1101A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 11 NP_001339866.1:p.Ser367= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 26 NM_001352951.1:c.531A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 21 NP_001339880.1:p.Ser177= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 7 NM_001352933.1:c.1101A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 6 NP_001339862.1:p.Ser367= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 29 NM_001352955.1:c.348A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 22 NP_001339884.1:p.Ser116= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 8 NM_001352961.1:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 7 NP_001339890.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 9 NM_001352934.1:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 8 NP_001339863.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 28 NM_001352953.1:c.348A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 22 NP_001339882.1:p.Ser116= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 31 NM_001352957.1:c.348A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 23 NP_001339886.1:p.Ser116= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 14 NM_001352939.1:c.789A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 12 NP_001339868.1:p.Ser263= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 16 NM_001352941.1:c.765A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 13 NP_001339870.1:p.Ser255= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 30 NM_001352956.1:c.348A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 22 NP_001339885.1:p.Ser116= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 25 NM_001352950.1:c.789A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 20 NP_001339879.1:p.Ser263= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 13 NM_001352938.1:c.789A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 12 NP_001339867.1:p.Ser263= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 24 NM_001352949.1:c.624A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 19 NP_001339878.1:p.Ser208= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 27 NM_001352952.1:c.348A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 22 NP_001339881.1:p.Ser116= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 32 NM_001352958.1:c.33A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 24 NP_001339887.1:p.Ser11= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 15 NM_001352940.1:c.789A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 12 NP_001339869.1:p.Ser263= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 11 NM_001352936.1:c.1071A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 10 NP_001339865.1:p.Ser357= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 10 NM_001352935.1:c.1071A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 9 NP_001339864.1:p.Ser357= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 19 NM_001352944.1:c.765A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 16 NP_001339873.1:p.Ser255= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 21 NM_001352946.1:c.531A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 18 NP_001339875.1:p.Ser177= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 5 NM_001352931.1:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 4 NP_001339860.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 18 NM_001352943.1:c.789A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 15 NP_001339872.1:p.Ser263= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 23 NM_001352948.1:c.531A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 18 NP_001339877.1:p.Ser177= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 17 NM_001352942.1:c.624A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 14 NP_001339871.1:p.Ser208= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 20 NM_001352945.1:c.555A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 17 NP_001339874.1:p.Ser185= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 1 NM_001080394.4:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform 1 NP_001073863.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant 4 NR_104581.1:n.1010A>T N/A Non Coding Transcript Variant
SPIDR transcript variant 35 NR_148202.1:n.1362A>T N/A Non Coding Transcript Variant
SPIDR transcript variant 36 NR_148203.1:n.1325A>T N/A Non Coding Transcript Variant
SPIDR transcript variant 38 NR_148205.1:n.1362A>T N/A Non Coding Transcript Variant
SPIDR transcript variant 37 NR_148204.1:n.1362A>T N/A Non Coding Transcript Variant
SPIDR transcript variant X1 XM_017013268.3:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X1 XP_016868757.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X2 XM_017013269.3:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X2 XP_016868758.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X3 XM_017013270.3:c.1161A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X3 XP_016868759.1:p.Ser387= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X4 XM_047421638.1:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X4 XP_047277594.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X5 XM_011517497.4:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X5 XP_011515799.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X6 XM_047421639.1:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X6 XP_047277595.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X7 XM_017013271.3:c.1101A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X7 XP_016868760.1:p.Ser367= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X8 XM_047421640.1:c.1101A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X8 XP_047277596.1:p.Ser367= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X9 XM_047421641.1:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X9 XP_047277597.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X10 XM_047421642.1:c.1161A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X10 XP_047277598.1:p.Ser387= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X11 XM_047421643.1:c.1281A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X11 XP_047277599.1:p.Ser427= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X12 XM_017013273.2:c.810A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X12 XP_016868762.1:p.Ser270= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X13 XM_047421644.1:c.1161A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X13 XP_047277600.1:p.Ser387= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X14 XM_047421645.1:c.789A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X14 XP_047277601.1:p.Ser263= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X15 XM_047421646.1:c.783A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X15 XP_047277602.1:p.Ser261= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X16 XM_047421647.1:c.624A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X16 XP_047277603.1:p.Ser208= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X17 XM_047421648.1:c.531A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X17 XP_047277604.1:p.Ser177= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X18 XM_047421649.1:c.348A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X18 XP_047277605.1:p.Ser116= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X19 XM_047421650.1:c.789A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X19 XP_047277606.1:p.Ser263= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X20 XM_047421651.1:c.33A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X20 XP_047277607.1:p.Ser11= S (Ser) > S (Ser) Synonymous Variant
SPIDR transcript variant X21 XM_047421652.1:c.33A>T S [TCA] > S [TCT] Coding Sequence Variant
DNA repair-scaffolding protein isoform X20 XP_047277608.1:p.Ser11= S (Ser) > S (Ser) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= T
GRCh38.p14 chr 8 NC_000008.11:g.47595994= NC_000008.11:g.47595994A>T
GRCh37.p13 chr 8 NC_000008.10:g.48508556= NC_000008.10:g.48508556A>T
SPIDR transcript variant X5 XM_011517497.4:c.1281= XM_011517497.4:c.1281A>T
SPIDR transcript variant X4 XM_011517497.3:c.1281= XM_011517497.3:c.1281A>T
SPIDR transcript variant X4 XM_011517497.2:c.1281= XM_011517497.2:c.1281A>T
SPIDR transcript variant X1 XM_011517497.1:c.1281= XM_011517497.1:c.1281A>T
SPIDR transcript variant 1 NM_001080394.4:c.1281= NM_001080394.4:c.1281A>T
SPIDR transcript variant 1 NM_001080394.3:c.1281= NM_001080394.3:c.1281A>T
SPIDR transcript NM_001080394.2:c.1281= NM_001080394.2:c.1281A>T
SPIDR transcript variant X7 XM_017013271.3:c.1101= XM_017013271.3:c.1101A>T
SPIDR transcript variant X5 XM_017013271.2:c.1101= XM_017013271.2:c.1101A>T
SPIDR transcript variant X6 XM_017013271.1:c.1101= XM_017013271.1:c.1101A>T
SPIDR transcript variant X1 XM_017013268.3:c.1281= XM_017013268.3:c.1281A>T
SPIDR transcript variant X1 XM_017013268.2:c.1281= XM_017013268.2:c.1281A>T
SPIDR transcript variant X1 XM_017013268.1:c.1281= XM_017013268.1:c.1281A>T
SPIDR transcript variant X2 XM_017013269.3:c.1281= XM_017013269.3:c.1281A>T
SPIDR transcript variant X2 XM_017013269.2:c.1281= XM_017013269.2:c.1281A>T
SPIDR transcript variant X2 XM_017013269.1:c.1281= XM_017013269.1:c.1281A>T
SPIDR transcript variant X3 XM_017013270.3:c.1161= XM_017013270.3:c.1161A>T
SPIDR transcript variant X3 XM_017013270.2:c.1161= XM_017013270.2:c.1161A>T
SPIDR transcript variant X3 XM_017013270.1:c.1161= XM_017013270.1:c.1161A>T
SPIDR transcript variant X12 XM_017013273.2:c.810= XM_017013273.2:c.810A>T
SPIDR transcript variant X6 XM_017013273.1:c.810= XM_017013273.1:c.810A>T
SPIDR transcript variant X8 XM_047421640.1:c.1101= XM_047421640.1:c.1101A>T
SPIDR transcript variant X4 XM_047421638.1:c.1281= XM_047421638.1:c.1281A>T
SPIDR transcript variant 35 NR_148202.1:n.1362= NR_148202.1:n.1362A>T
SPIDR transcript variant 24 NM_001352949.1:c.624= NM_001352949.1:c.624A>T
SPIDR transcript variant 32 NM_001352958.1:c.33= NM_001352958.1:c.33A>T
SPIDR transcript variant X11 XM_047421643.1:c.1281= XM_047421643.1:c.1281A>T
SPIDR transcript variant 5 NM_001352931.1:c.1281= NM_001352931.1:c.1281A>T
SPIDR transcript variant X13 XM_047421644.1:c.1161= XM_047421644.1:c.1161A>T
SPIDR transcript variant 37 NR_148204.1:n.1362= NR_148204.1:n.1362A>T
SPIDR transcript variant 10 NM_001352935.1:c.1071= NM_001352935.1:c.1071A>T
SPIDR transcript variant X9 XM_047421641.1:c.1281= XM_047421641.1:c.1281A>T
SPIDR transcript variant 3 NM_001282919.1:c.1101= NM_001282919.1:c.1101A>T
SPIDR transcript variant 7 NM_001352933.1:c.1101= NM_001352933.1:c.1101A>T
SPIDR transcript variant 2 NM_001282916.1:c.1071= NM_001282916.1:c.1071A>T
SPIDR transcript variant X10 XM_047421642.1:c.1161= XM_047421642.1:c.1161A>T
SPIDR transcript variant 38 NR_148205.1:n.1362= NR_148205.1:n.1362A>T
SPIDR transcript variant X15 XM_047421646.1:c.783= XM_047421646.1:c.783A>T
SPIDR transcript variant 6 NM_001352932.1:c.1161= NM_001352932.1:c.1161A>T
SPIDR transcript variant X14 XM_047421645.1:c.789= XM_047421645.1:c.789A>T
SPIDR transcript variant 36 NR_148203.1:n.1325= NR_148203.1:n.1325A>T
SPIDR transcript variant X16 XM_047421647.1:c.624= XM_047421647.1:c.624A>T
SPIDR transcript variant 15 NM_001352940.1:c.789= NM_001352940.1:c.789A>T
SPIDR transcript variant 9 NM_001352934.1:c.1281= NM_001352934.1:c.1281A>T
SPIDR transcript variant 26 NM_001352951.1:c.531= NM_001352951.1:c.531A>T
SPIDR transcript variant 13 NM_001352938.1:c.789= NM_001352938.1:c.789A>T
SPIDR transcript variant 12 NM_001352937.1:c.1101= NM_001352937.1:c.1101A>T
SPIDR transcript variant 17 NM_001352942.1:c.624= NM_001352942.1:c.624A>T
SPIDR transcript variant 14 NM_001352939.1:c.789= NM_001352939.1:c.789A>T
SPIDR transcript variant 22 NM_001352947.1:c.531= NM_001352947.1:c.531A>T
SPIDR transcript variant 23 NM_001352948.1:c.531= NM_001352948.1:c.531A>T
SPIDR transcript variant 8 NM_001352961.1:c.1281= NM_001352961.1:c.1281A>T
SPIDR transcript variant 21 NM_001352946.1:c.531= NM_001352946.1:c.531A>T
SPIDR transcript variant 11 NM_001352936.1:c.1071= NM_001352936.1:c.1071A>T
SPIDR transcript variant 25 NM_001352950.1:c.789= NM_001352950.1:c.789A>T
SPIDR transcript variant 29 NM_001352955.1:c.348= NM_001352955.1:c.348A>T
SPIDR transcript variant X17 XM_047421648.1:c.531= XM_047421648.1:c.531A>T
SPIDR transcript variant 27 NM_001352952.1:c.348= NM_001352952.1:c.348A>T
SPIDR transcript variant 28 NM_001352953.1:c.348= NM_001352953.1:c.348A>T
SPIDR transcript variant 18 NM_001352943.1:c.789= NM_001352943.1:c.789A>T
SPIDR transcript variant 30 NM_001352956.1:c.348= NM_001352956.1:c.348A>T
SPIDR transcript variant 16 NM_001352941.1:c.765= NM_001352941.1:c.765A>T
SPIDR transcript variant 31 NM_001352957.1:c.348= NM_001352957.1:c.348A>T
SPIDR transcript variant 20 NM_001352945.1:c.555= NM_001352945.1:c.555A>T
SPIDR transcript variant X18 XM_047421649.1:c.348= XM_047421649.1:c.348A>T
SPIDR transcript variant 4 NR_104581.1:n.1010= NR_104581.1:n.1010A>T
SPIDR transcript variant X6 XM_047421639.1:c.1281= XM_047421639.1:c.1281A>T
SPIDR transcript variant X20 XM_047421651.1:c.33= XM_047421651.1:c.33A>T
SPIDR transcript variant 19 NM_001352944.1:c.765= NM_001352944.1:c.765A>T
SPIDR transcript variant X19 XM_047421650.1:c.789= XM_047421650.1:c.789A>T
SPIDR transcript variant X21 XM_047421652.1:c.33= XM_047421652.1:c.33A>T
DNA repair-scaffolding protein isoform X5 XP_011515799.1:p.Ser427= XP_011515799.1:p.Ser427=
DNA repair-scaffolding protein isoform 1 NP_001073863.1:p.Ser427= NP_001073863.1:p.Ser427=
DNA repair-scaffolding protein isoform X7 XP_016868760.1:p.Ser367= XP_016868760.1:p.Ser367=
DNA repair-scaffolding protein isoform X1 XP_016868757.1:p.Ser427= XP_016868757.1:p.Ser427=
DNA repair-scaffolding protein isoform X2 XP_016868758.1:p.Ser427= XP_016868758.1:p.Ser427=
DNA repair-scaffolding protein isoform X3 XP_016868759.1:p.Ser387= XP_016868759.1:p.Ser387=
DNA repair-scaffolding protein isoform X12 XP_016868762.1:p.Ser270= XP_016868762.1:p.Ser270=
DNA repair-scaffolding protein isoform X8 XP_047277596.1:p.Ser367= XP_047277596.1:p.Ser367=
DNA repair-scaffolding protein isoform X4 XP_047277594.1:p.Ser427= XP_047277594.1:p.Ser427=
DNA repair-scaffolding protein isoform 19 NP_001339878.1:p.Ser208= NP_001339878.1:p.Ser208=
DNA repair-scaffolding protein isoform 24 NP_001339887.1:p.Ser11= NP_001339887.1:p.Ser11=
DNA repair-scaffolding protein isoform X11 XP_047277599.1:p.Ser427= XP_047277599.1:p.Ser427=
DNA repair-scaffolding protein isoform 4 NP_001339860.1:p.Ser427= NP_001339860.1:p.Ser427=
DNA repair-scaffolding protein isoform X13 XP_047277600.1:p.Ser387= XP_047277600.1:p.Ser387=
DNA repair-scaffolding protein isoform 9 NP_001339864.1:p.Ser357= NP_001339864.1:p.Ser357=
DNA repair-scaffolding protein isoform X9 XP_047277597.1:p.Ser427= XP_047277597.1:p.Ser427=
DNA repair-scaffolding protein isoform 3 NP_001269848.1:p.Ser367= NP_001269848.1:p.Ser367=
DNA repair-scaffolding protein isoform 6 NP_001339862.1:p.Ser367= NP_001339862.1:p.Ser367=
DNA repair-scaffolding protein isoform 2 NP_001269845.1:p.Ser357= NP_001269845.1:p.Ser357=
DNA repair-scaffolding protein isoform X10 XP_047277598.1:p.Ser387= XP_047277598.1:p.Ser387=
DNA repair-scaffolding protein isoform X15 XP_047277602.1:p.Ser261= XP_047277602.1:p.Ser261=
DNA repair-scaffolding protein isoform 5 NP_001339861.1:p.Ser387= NP_001339861.1:p.Ser387=
DNA repair-scaffolding protein isoform X14 XP_047277601.1:p.Ser263= XP_047277601.1:p.Ser263=
DNA repair-scaffolding protein isoform X16 XP_047277603.1:p.Ser208= XP_047277603.1:p.Ser208=
DNA repair-scaffolding protein isoform 12 NP_001339869.1:p.Ser263= NP_001339869.1:p.Ser263=
DNA repair-scaffolding protein isoform 8 NP_001339863.1:p.Ser427= NP_001339863.1:p.Ser427=
DNA repair-scaffolding protein isoform 21 NP_001339880.1:p.Ser177= NP_001339880.1:p.Ser177=
DNA repair-scaffolding protein isoform 12 NP_001339867.1:p.Ser263= NP_001339867.1:p.Ser263=
DNA repair-scaffolding protein isoform 11 NP_001339866.1:p.Ser367= NP_001339866.1:p.Ser367=
DNA repair-scaffolding protein isoform 14 NP_001339871.1:p.Ser208= NP_001339871.1:p.Ser208=
DNA repair-scaffolding protein isoform 12 NP_001339868.1:p.Ser263= NP_001339868.1:p.Ser263=
DNA repair-scaffolding protein isoform 18 NP_001339876.1:p.Ser177= NP_001339876.1:p.Ser177=
DNA repair-scaffolding protein isoform 18 NP_001339877.1:p.Ser177= NP_001339877.1:p.Ser177=
DNA repair-scaffolding protein isoform 7 NP_001339890.1:p.Ser427= NP_001339890.1:p.Ser427=
DNA repair-scaffolding protein isoform 18 NP_001339875.1:p.Ser177= NP_001339875.1:p.Ser177=
DNA repair-scaffolding protein isoform 10 NP_001339865.1:p.Ser357= NP_001339865.1:p.Ser357=
DNA repair-scaffolding protein isoform 20 NP_001339879.1:p.Ser263= NP_001339879.1:p.Ser263=
DNA repair-scaffolding protein isoform 22 NP_001339884.1:p.Ser116= NP_001339884.1:p.Ser116=
DNA repair-scaffolding protein isoform X17 XP_047277604.1:p.Ser177= XP_047277604.1:p.Ser177=
DNA repair-scaffolding protein isoform 22 NP_001339881.1:p.Ser116= NP_001339881.1:p.Ser116=
DNA repair-scaffolding protein isoform 22 NP_001339882.1:p.Ser116= NP_001339882.1:p.Ser116=
DNA repair-scaffolding protein isoform 15 NP_001339872.1:p.Ser263= NP_001339872.1:p.Ser263=
DNA repair-scaffolding protein isoform 22 NP_001339885.1:p.Ser116= NP_001339885.1:p.Ser116=
DNA repair-scaffolding protein isoform 13 NP_001339870.1:p.Ser255= NP_001339870.1:p.Ser255=
DNA repair-scaffolding protein isoform 23 NP_001339886.1:p.Ser116= NP_001339886.1:p.Ser116=
DNA repair-scaffolding protein isoform 17 NP_001339874.1:p.Ser185= NP_001339874.1:p.Ser185=
DNA repair-scaffolding protein isoform X18 XP_047277605.1:p.Ser116= XP_047277605.1:p.Ser116=
DNA repair-scaffolding protein isoform X6 XP_047277595.1:p.Ser427= XP_047277595.1:p.Ser427=
DNA repair-scaffolding protein isoform X20 XP_047277607.1:p.Ser11= XP_047277607.1:p.Ser11=
DNA repair-scaffolding protein isoform 16 NP_001339873.1:p.Ser255= NP_001339873.1:p.Ser255=
DNA repair-scaffolding protein isoform X19 XP_047277606.1:p.Ser263= XP_047277606.1:p.Ser263=
DNA repair-scaffolding protein isoform X20 XP_047277608.1:p.Ser11= XP_047277608.1:p.Ser11=
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2737142976 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000008.10 - 48508556 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
6314590, ss2737142976 NC_000008.10:48508555:A:T NC_000008.11:47595993:A:T (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 rs1473668004

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