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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.

rs5841203

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:35373688-35373707 (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
del(A)6 / del(A)4 / delAAA / delAA…

del(A)6 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7

Variation Type
Indel Insertion and Deletion
Frequency
(A)20=0.2588 (1296/5008, 1000G)
delAA=0.2823 (1088/3854, ALSPAC)
del(A)6=0.0000 (0/1232, ALFA) (+ 6 more)
delAAA=0.0000 (0/1232, ALFA)
delAA=0.0000 (0/1232, ALFA)
delA=0.0000 (0/1232, ALFA)
dupA=0.0000 (0/1232, ALFA)
dupAA=0.0000 (0/1232, ALFA)
delA=0.45 (18/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UQCC1 : Intron 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 1232 AAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1008 AAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 128 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 4 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 124 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 4 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 8 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 34 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 8 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 42 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 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
1000Genomes Global Study-wide 5008 (A)20=0.2588 delA=0.7412
1000Genomes African Sub 1322 (A)20=0.3018 delA=0.6982
1000Genomes East Asian Sub 1008 (A)20=0.1687 delA=0.8313
1000Genomes Europe Sub 1006 (A)20=0.3141 delA=0.6859
1000Genomes South Asian Sub 978 (A)20=0.271 delA=0.729
1000Genomes American Sub 694 (A)20=0.210 delA=0.790
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (A)20=0.7177 delAA=0.2823
Allele Frequency Aggregator Total Global 1232 (A)20=1.0000 del(A)6=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator European Sub 1008 (A)20=1.0000 del(A)6=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator African Sub 128 (A)20=1.000 del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 42 (A)20=1.00 del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 2 Sub 34 (A)20=1.00 del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 8 (A)20=1.0 del(A)6=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator South Asian Sub 8 (A)20=1.0 del(A)6=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator Asian Sub 4 (A)20=1.0 del(A)6=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
The Danish reference pan genome Danish Study-wide 40 (A)20=0.55 delA=0.45
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 20 NC_000020.11:g.35373702_35373707del
GRCh38.p14 chr 20 NC_000020.11:g.35373704_35373707del
GRCh38.p14 chr 20 NC_000020.11:g.35373705_35373707del
GRCh38.p14 chr 20 NC_000020.11:g.35373706_35373707del
GRCh38.p14 chr 20 NC_000020.11:g.35373707del
GRCh38.p14 chr 20 NC_000020.11:g.35373707dup
GRCh38.p14 chr 20 NC_000020.11:g.35373706_35373707dup
GRCh38.p14 chr 20 NC_000020.11:g.35373705_35373707dup
GRCh38.p14 chr 20 NC_000020.11:g.35373704_35373707dup
GRCh38.p14 chr 20 NC_000020.11:g.35373703_35373707dup
GRCh38.p14 chr 20 NC_000020.11:g.35373702_35373707dup
GRCh38.p14 chr 20 NC_000020.11:g.35373701_35373707dup
GRCh37.p13 chr 20 NC_000020.10:g.33961505_33961510del
GRCh37.p13 chr 20 NC_000020.10:g.33961507_33961510del
GRCh37.p13 chr 20 NC_000020.10:g.33961508_33961510del
GRCh37.p13 chr 20 NC_000020.10:g.33961509_33961510del
GRCh37.p13 chr 20 NC_000020.10:g.33961510del
GRCh37.p13 chr 20 NC_000020.10:g.33961510dup
GRCh37.p13 chr 20 NC_000020.10:g.33961509_33961510dup
GRCh37.p13 chr 20 NC_000020.10:g.33961508_33961510dup
GRCh37.p13 chr 20 NC_000020.10:g.33961507_33961510dup
GRCh37.p13 chr 20 NC_000020.10:g.33961506_33961510dup
GRCh37.p13 chr 20 NC_000020.10:g.33961505_33961510dup
GRCh37.p13 chr 20 NC_000020.10:g.33961504_33961510dup
UQCC1 RefSeqGene NG_021421.1:g.43450_43455del
UQCC1 RefSeqGene NG_021421.1:g.43452_43455del
UQCC1 RefSeqGene NG_021421.1:g.43453_43455del
UQCC1 RefSeqGene NG_021421.1:g.43454_43455del
UQCC1 RefSeqGene NG_021421.1:g.43455del
UQCC1 RefSeqGene NG_021421.1:g.43455dup
UQCC1 RefSeqGene NG_021421.1:g.43454_43455dup
UQCC1 RefSeqGene NG_021421.1:g.43453_43455dup
UQCC1 RefSeqGene NG_021421.1:g.43452_43455dup
UQCC1 RefSeqGene NG_021421.1:g.43451_43455dup
UQCC1 RefSeqGene NG_021421.1:g.43450_43455dup
UQCC1 RefSeqGene NG_021421.1:g.43449_43455dup
Gene: UQCC1, ubiquinol-cytochrome c reductase complex assembly factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UQCC1 transcript variant 3 NM_001184977.2:c.202+491_…

NM_001184977.2:c.202+491_202+496del

N/A Intron Variant
UQCC1 transcript variant 1 NM_018244.5:c.406+491_406…

NM_018244.5:c.406+491_406+496del

N/A Intron Variant
UQCC1 transcript variant 2 NM_199487.3:c.406+491_406…

NM_199487.3:c.406+491_406+496del

N/A Intron Variant
UQCC1 transcript variant X1 XM_011528877.2:c.448+491_…

XM_011528877.2:c.448+491_448+496del

N/A Intron Variant
UQCC1 transcript variant X2 XM_011528878.3:c.310+491_…

XM_011528878.3:c.310+491_310+496del

N/A Intron Variant
UQCC1 transcript variant X4 XM_011528879.2:c.268+491_…

XM_011528879.2:c.268+491_268+496del

N/A Intron Variant
UQCC1 transcript variant X3 XM_011528880.3:c.268+491_…

XM_011528880.3:c.268+491_268+496del

N/A Intron Variant
UQCC1 transcript variant X5 XM_011528881.4:c.109+491_…

XM_011528881.4:c.109+491_109+496del

N/A Intron Variant
UQCC1 transcript variant X6 XM_047440254.1:c.5-7079_5…

XM_047440254.1:c.5-7079_5-7074del

N/A Intron 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)20= del(A)6 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7
GRCh38.p14 chr 20 NC_000020.11:g.35373688_35373707= NC_000020.11:g.35373702_35373707del NC_000020.11:g.35373704_35373707del NC_000020.11:g.35373705_35373707del NC_000020.11:g.35373706_35373707del NC_000020.11:g.35373707del NC_000020.11:g.35373707dup NC_000020.11:g.35373706_35373707dup NC_000020.11:g.35373705_35373707dup NC_000020.11:g.35373704_35373707dup NC_000020.11:g.35373703_35373707dup NC_000020.11:g.35373702_35373707dup NC_000020.11:g.35373701_35373707dup
GRCh37.p13 chr 20 NC_000020.10:g.33961491_33961510= NC_000020.10:g.33961505_33961510del NC_000020.10:g.33961507_33961510del NC_000020.10:g.33961508_33961510del NC_000020.10:g.33961509_33961510del NC_000020.10:g.33961510del NC_000020.10:g.33961510dup NC_000020.10:g.33961509_33961510dup NC_000020.10:g.33961508_33961510dup NC_000020.10:g.33961507_33961510dup NC_000020.10:g.33961506_33961510dup NC_000020.10:g.33961505_33961510dup NC_000020.10:g.33961504_33961510dup
UQCC1 RefSeqGene NG_021421.1:g.43436_43455= NG_021421.1:g.43450_43455del NG_021421.1:g.43452_43455del NG_021421.1:g.43453_43455del NG_021421.1:g.43454_43455del NG_021421.1:g.43455del NG_021421.1:g.43455dup NG_021421.1:g.43454_43455dup NG_021421.1:g.43453_43455dup NG_021421.1:g.43452_43455dup NG_021421.1:g.43451_43455dup NG_021421.1:g.43450_43455dup NG_021421.1:g.43449_43455dup
UQCC1 transcript variant 3 NM_001184977.1:c.202+496= NM_001184977.1:c.202+491_202+496del NM_001184977.1:c.202+493_202+496del NM_001184977.1:c.202+494_202+496del NM_001184977.1:c.202+495_202+496del NM_001184977.1:c.202+496del NM_001184977.1:c.202+496dup NM_001184977.1:c.202+495_202+496dup NM_001184977.1:c.202+494_202+496dup NM_001184977.1:c.202+493_202+496dup NM_001184977.1:c.202+492_202+496dup NM_001184977.1:c.202+491_202+496dup NM_001184977.1:c.202+490_202+496dup
UQCC1 transcript variant 3 NM_001184977.2:c.202+496= NM_001184977.2:c.202+491_202+496del NM_001184977.2:c.202+493_202+496del NM_001184977.2:c.202+494_202+496del NM_001184977.2:c.202+495_202+496del NM_001184977.2:c.202+496del NM_001184977.2:c.202+496dup NM_001184977.2:c.202+495_202+496dup NM_001184977.2:c.202+494_202+496dup NM_001184977.2:c.202+493_202+496dup NM_001184977.2:c.202+492_202+496dup NM_001184977.2:c.202+491_202+496dup NM_001184977.2:c.202+490_202+496dup
UQCC1 transcript variant 1 NM_018244.4:c.406+496= NM_018244.4:c.406+491_406+496del NM_018244.4:c.406+493_406+496del NM_018244.4:c.406+494_406+496del NM_018244.4:c.406+495_406+496del NM_018244.4:c.406+496del NM_018244.4:c.406+496dup NM_018244.4:c.406+495_406+496dup NM_018244.4:c.406+494_406+496dup NM_018244.4:c.406+493_406+496dup NM_018244.4:c.406+492_406+496dup NM_018244.4:c.406+491_406+496dup NM_018244.4:c.406+490_406+496dup
UQCC1 transcript variant 1 NM_018244.5:c.406+496= NM_018244.5:c.406+491_406+496del NM_018244.5:c.406+493_406+496del NM_018244.5:c.406+494_406+496del NM_018244.5:c.406+495_406+496del NM_018244.5:c.406+496del NM_018244.5:c.406+496dup NM_018244.5:c.406+495_406+496dup NM_018244.5:c.406+494_406+496dup NM_018244.5:c.406+493_406+496dup NM_018244.5:c.406+492_406+496dup NM_018244.5:c.406+491_406+496dup NM_018244.5:c.406+490_406+496dup
UQCC1 transcript variant 2 NM_199487.2:c.406+496= NM_199487.2:c.406+491_406+496del NM_199487.2:c.406+493_406+496del NM_199487.2:c.406+494_406+496del NM_199487.2:c.406+495_406+496del NM_199487.2:c.406+496del NM_199487.2:c.406+496dup NM_199487.2:c.406+495_406+496dup NM_199487.2:c.406+494_406+496dup NM_199487.2:c.406+493_406+496dup NM_199487.2:c.406+492_406+496dup NM_199487.2:c.406+491_406+496dup NM_199487.2:c.406+490_406+496dup
UQCC1 transcript variant 2 NM_199487.3:c.406+496= NM_199487.3:c.406+491_406+496del NM_199487.3:c.406+493_406+496del NM_199487.3:c.406+494_406+496del NM_199487.3:c.406+495_406+496del NM_199487.3:c.406+496del NM_199487.3:c.406+496dup NM_199487.3:c.406+495_406+496dup NM_199487.3:c.406+494_406+496dup NM_199487.3:c.406+493_406+496dup NM_199487.3:c.406+492_406+496dup NM_199487.3:c.406+491_406+496dup NM_199487.3:c.406+490_406+496dup
UQCC transcript variant X1 XM_005260440.1:c.448+496= XM_005260440.1:c.448+491_448+496del XM_005260440.1:c.448+493_448+496del XM_005260440.1:c.448+494_448+496del XM_005260440.1:c.448+495_448+496del XM_005260440.1:c.448+496del XM_005260440.1:c.448+496dup XM_005260440.1:c.448+495_448+496dup XM_005260440.1:c.448+494_448+496dup XM_005260440.1:c.448+493_448+496dup XM_005260440.1:c.448+492_448+496dup XM_005260440.1:c.448+491_448+496dup XM_005260440.1:c.448+490_448+496dup
UQCC transcript variant X2 XM_005260441.1:c.310+496= XM_005260441.1:c.310+491_310+496del XM_005260441.1:c.310+493_310+496del XM_005260441.1:c.310+494_310+496del XM_005260441.1:c.310+495_310+496del XM_005260441.1:c.310+496del XM_005260441.1:c.310+496dup XM_005260441.1:c.310+495_310+496dup XM_005260441.1:c.310+494_310+496dup XM_005260441.1:c.310+493_310+496dup XM_005260441.1:c.310+492_310+496dup XM_005260441.1:c.310+491_310+496dup XM_005260441.1:c.310+490_310+496dup
UQCC transcript variant X3 XM_005260442.1:c.71-7074= XM_005260442.1:c.71-7079_71-7074del XM_005260442.1:c.71-7077_71-7074del XM_005260442.1:c.71-7076_71-7074del XM_005260442.1:c.71-7075_71-7074del XM_005260442.1:c.71-7074del XM_005260442.1:c.71-7074dup XM_005260442.1:c.71-7075_71-7074dup XM_005260442.1:c.71-7076_71-7074dup XM_005260442.1:c.71-7077_71-7074dup XM_005260442.1:c.71-7078_71-7074dup XM_005260442.1:c.71-7079_71-7074dup XM_005260442.1:c.71-7080_71-7074dup
UQCC transcript variant X4 XM_005260443.1:c.5-7074= XM_005260443.1:c.5-7079_5-7074del XM_005260443.1:c.5-7077_5-7074del XM_005260443.1:c.5-7076_5-7074del XM_005260443.1:c.5-7075_5-7074del XM_005260443.1:c.5-7074del XM_005260443.1:c.5-7074dup XM_005260443.1:c.5-7075_5-7074dup XM_005260443.1:c.5-7076_5-7074dup XM_005260443.1:c.5-7077_5-7074dup XM_005260443.1:c.5-7078_5-7074dup XM_005260443.1:c.5-7079_5-7074dup XM_005260443.1:c.5-7080_5-7074dup
UQCC transcript variant X5 XM_005260444.1:c.220+10355= XM_005260444.1:c.220+10350_220+10355del XM_005260444.1:c.220+10352_220+10355del XM_005260444.1:c.220+10353_220+10355del XM_005260444.1:c.220+10354_220+10355del XM_005260444.1:c.220+10355del XM_005260444.1:c.220+10355dup XM_005260444.1:c.220+10354_220+10355dup XM_005260444.1:c.220+10353_220+10355dup XM_005260444.1:c.220+10352_220+10355dup XM_005260444.1:c.220+10351_220+10355dup XM_005260444.1:c.220+10350_220+10355dup XM_005260444.1:c.220+10349_220+10355dup
UQCC1 transcript variant X1 XM_011528877.2:c.448+496= XM_011528877.2:c.448+491_448+496del XM_011528877.2:c.448+493_448+496del XM_011528877.2:c.448+494_448+496del XM_011528877.2:c.448+495_448+496del XM_011528877.2:c.448+496del XM_011528877.2:c.448+496dup XM_011528877.2:c.448+495_448+496dup XM_011528877.2:c.448+494_448+496dup XM_011528877.2:c.448+493_448+496dup XM_011528877.2:c.448+492_448+496dup XM_011528877.2:c.448+491_448+496dup XM_011528877.2:c.448+490_448+496dup
UQCC1 transcript variant X2 XM_011528878.3:c.310+496= XM_011528878.3:c.310+491_310+496del XM_011528878.3:c.310+493_310+496del XM_011528878.3:c.310+494_310+496del XM_011528878.3:c.310+495_310+496del XM_011528878.3:c.310+496del XM_011528878.3:c.310+496dup XM_011528878.3:c.310+495_310+496dup XM_011528878.3:c.310+494_310+496dup XM_011528878.3:c.310+493_310+496dup XM_011528878.3:c.310+492_310+496dup XM_011528878.3:c.310+491_310+496dup XM_011528878.3:c.310+490_310+496dup
UQCC1 transcript variant X4 XM_011528879.2:c.268+496= XM_011528879.2:c.268+491_268+496del XM_011528879.2:c.268+493_268+496del XM_011528879.2:c.268+494_268+496del XM_011528879.2:c.268+495_268+496del XM_011528879.2:c.268+496del XM_011528879.2:c.268+496dup XM_011528879.2:c.268+495_268+496dup XM_011528879.2:c.268+494_268+496dup XM_011528879.2:c.268+493_268+496dup XM_011528879.2:c.268+492_268+496dup XM_011528879.2:c.268+491_268+496dup XM_011528879.2:c.268+490_268+496dup
UQCC1 transcript variant X3 XM_011528880.3:c.268+496= XM_011528880.3:c.268+491_268+496del XM_011528880.3:c.268+493_268+496del XM_011528880.3:c.268+494_268+496del XM_011528880.3:c.268+495_268+496del XM_011528880.3:c.268+496del XM_011528880.3:c.268+496dup XM_011528880.3:c.268+495_268+496dup XM_011528880.3:c.268+494_268+496dup XM_011528880.3:c.268+493_268+496dup XM_011528880.3:c.268+492_268+496dup XM_011528880.3:c.268+491_268+496dup XM_011528880.3:c.268+490_268+496dup
UQCC1 transcript variant X5 XM_011528881.4:c.109+496= XM_011528881.4:c.109+491_109+496del XM_011528881.4:c.109+493_109+496del XM_011528881.4:c.109+494_109+496del XM_011528881.4:c.109+495_109+496del XM_011528881.4:c.109+496del XM_011528881.4:c.109+496dup XM_011528881.4:c.109+495_109+496dup XM_011528881.4:c.109+494_109+496dup XM_011528881.4:c.109+493_109+496dup XM_011528881.4:c.109+492_109+496dup XM_011528881.4:c.109+491_109+496dup XM_011528881.4:c.109+490_109+496dup
UQCC1 transcript variant X6 XM_047440254.1:c.5-7074= XM_047440254.1:c.5-7079_5-7074del XM_047440254.1:c.5-7077_5-7074del XM_047440254.1:c.5-7076_5-7074del XM_047440254.1:c.5-7075_5-7074del XM_047440254.1:c.5-7074del XM_047440254.1:c.5-7074dup XM_047440254.1:c.5-7075_5-7074dup XM_047440254.1:c.5-7076_5-7074dup XM_047440254.1:c.5-7077_5-7074dup XM_047440254.1:c.5-7078_5-7074dup XM_047440254.1:c.5-7079_5-7074dup XM_047440254.1:c.5-7080_5-7074dup
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#.

52 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 DEVINE_LAB ss15224450 Mar 15, 2016 (147)
2 HUMANGENOME_JCVI ss95739546 Dec 05, 2013 (144)
3 HUMANGENOME_JCVI ss96245018 Dec 03, 2013 (144)
4 PJP ss295046799 May 09, 2011 (137)
5 PJP ss295046800 May 09, 2011 (137)
6 1000GENOMES ss1378476631 Aug 21, 2014 (142)
7 EVA_GENOME_DK ss1575701464 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1709347667 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1709348144 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710812242 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710812245 Apr 01, 2015 (144)
12 ILLUMINA ss2136298026 Dec 20, 2016 (150)
13 SWEGEN ss3018138495 Nov 08, 2017 (151)
14 ILLUMINA ss3022116163 Nov 08, 2017 (151)
15 MCHAISSO ss3063997153 Nov 08, 2017 (151)
16 URBANLAB ss3651015723 Oct 12, 2018 (152)
17 ILLUMINA ss3652571220 Oct 12, 2018 (152)
18 EVA_DECODE ss3706888925 Jul 13, 2019 (153)
19 EVA_DECODE ss3706888926 Jul 13, 2019 (153)
20 EVA_DECODE ss3706888927 Jul 13, 2019 (153)
21 EVA_DECODE ss3706888928 Jul 13, 2019 (153)
22 EVA_DECODE ss3706888929 Jul 13, 2019 (153)
23 PACBIO ss3798421094 Jul 13, 2019 (153)
24 KHV_HUMAN_GENOMES ss3821773212 Jul 13, 2019 (153)
25 EVA ss3835658959 Apr 27, 2020 (154)
26 GNOMAD ss4352890079 Apr 27, 2021 (155)
27 GNOMAD ss4352890080 Apr 27, 2021 (155)
28 GNOMAD ss4352890081 Apr 27, 2021 (155)
29 GNOMAD ss4352890082 Apr 27, 2021 (155)
30 GNOMAD ss4352890083 Apr 27, 2021 (155)
31 GNOMAD ss4352890084 Apr 27, 2021 (155)
32 GNOMAD ss4352890085 Apr 27, 2021 (155)
33 GNOMAD ss4352890087 Apr 27, 2021 (155)
34 GNOMAD ss4352890088 Apr 27, 2021 (155)
35 TOMMO_GENOMICS ss5229512769 Apr 27, 2021 (155)
36 TOMMO_GENOMICS ss5229512770 Apr 27, 2021 (155)
37 TOMMO_GENOMICS ss5229512771 Apr 27, 2021 (155)
38 TOMMO_GENOMICS ss5229512772 Apr 27, 2021 (155)
39 1000G_HIGH_COVERAGE ss5308696349 Oct 16, 2022 (156)
40 1000G_HIGH_COVERAGE ss5308696350 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5308696351 Oct 16, 2022 (156)
42 HUGCELL_USP ss5500983805 Oct 16, 2022 (156)
43 HUGCELL_USP ss5500983806 Oct 16, 2022 (156)
44 HUGCELL_USP ss5500983807 Oct 16, 2022 (156)
45 TOMMO_GENOMICS ss5789270847 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5789270848 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5789270849 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5789270851 Oct 16, 2022 (156)
49 YY_MCH ss5818021683 Oct 16, 2022 (156)
50 EVA ss5845655145 Oct 16, 2022 (156)
51 EVA ss5845655146 Oct 16, 2022 (156)
52 EVA ss5845655147 Oct 16, 2022 (156)
53 1000Genomes NC_000020.10 - 33961491 Oct 12, 2018 (152)
54 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 33961491 Oct 12, 2018 (152)
55 The Danish reference pan genome NC_000020.10 - 33961491 Apr 27, 2020 (154)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 551007245 (NC_000020.11:35373687::A 2168/78280)
Row 551007246 (NC_000020.11:35373687::AA 26/78394)
Row 551007247 (NC_000020.11:35373687::AAA 7/78408)...

- Apr 27, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 87482076 (NC_000020.10:33961490:A: 12741/16524)
Row 87482077 (NC_000020.10:33961490:AA: 7/16524)
Row 87482078 (NC_000020.10:33961490:AAAA: 1/16524)...

- Apr 27, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 87482076 (NC_000020.10:33961490:A: 12741/16524)
Row 87482077 (NC_000020.10:33961490:AA: 7/16524)
Row 87482078 (NC_000020.10:33961490:AAAA: 1/16524)...

- Apr 27, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 87482076 (NC_000020.10:33961490:A: 12741/16524)
Row 87482077 (NC_000020.10:33961490:AA: 7/16524)
Row 87482078 (NC_000020.10:33961490:AAAA: 1/16524)...

- Apr 27, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 87482076 (NC_000020.10:33961490:A: 12741/16524)
Row 87482077 (NC_000020.10:33961490:AA: 7/16524)
Row 87482078 (NC_000020.10:33961490:AAAA: 1/16524)...

- Apr 27, 2021 (155)
69 14KJPN

Submission ignored due to conflicting rows:
Row 123107951 (NC_000020.11:35373687:A: 23604/28208)
Row 123107952 (NC_000020.11:35373687:AA: 17/28208)
Row 123107953 (NC_000020.11:35373687::A 6/28208)...

- Oct 16, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 123107951 (NC_000020.11:35373687:A: 23604/28208)
Row 123107952 (NC_000020.11:35373687:AA: 17/28208)
Row 123107953 (NC_000020.11:35373687::A 6/28208)...

- Oct 16, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 123107951 (NC_000020.11:35373687:A: 23604/28208)
Row 123107952 (NC_000020.11:35373687:AA: 17/28208)
Row 123107953 (NC_000020.11:35373687::A 6/28208)...

- Oct 16, 2022 (156)
72 14KJPN

Submission ignored due to conflicting rows:
Row 123107951 (NC_000020.11:35373687:A: 23604/28208)
Row 123107952 (NC_000020.11:35373687:AA: 17/28208)
Row 123107953 (NC_000020.11:35373687::A 6/28208)...

- Oct 16, 2022 (156)
73 UK 10K study - Twins - Oct 12, 2018 (152)
74 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 43238654 (NC_000020.10:33961490:AA: 996/3708)
Row 43238655 (NC_000020.10:33961491:A: 2201/3708)

- Apr 27, 2020 (154)
75 ALFA NC_000020.11 - 35373688 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs11301692 May 11, 2012 (137)
rs11338357 May 11, 2012 (137)
rs11344519 May 11, 2012 (137)
rs11475647 May 11, 2012 (137)
rs11476282 May 11, 2012 (137)
rs33991549 May 23, 2006 (127)
rs397694096 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
379540918 NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss5229512771 NC_000020.10:33961490:AAAA: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5845655147 NC_000020.10:33961490:AAA: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

ss3706888929, ss4352890088 NC_000020.11:35373687:AAA: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
379540918 NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
43238654, ss1709347667, ss1709348144, ss3018138495, ss5229512770, ss5845655146 NC_000020.10:33961490:AA: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4352890087, ss5308696351, ss5500983806, ss5789270848 NC_000020.11:35373687:AA: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
379540918 NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3706888928 NC_000020.11:35373688:AA: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss295046799 NC_000020.9:33424904:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss295046800 NC_000020.9:33424923:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
78113145, 757039, ss1378476631, ss1575701464, ss2136298026, ss3022116163, ss3652571220, ss3798421094, ss3835658959, ss5229512769, ss5845655145 NC_000020.10:33961490:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1710812242, ss1710812245 NC_000020.10:33961491:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3063997153, ss3651015723, ss3821773212, ss5308696349, ss5500983805, ss5789270847, ss5818021683 NC_000020.11:35373687:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
379540918 NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3706888927 NC_000020.11:35373689:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss15224450 NT_011362.10:4157592:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss95739546, ss96245018 NT_011362.10:4157601:A: NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5229512772 NC_000020.10:33961490::A NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4352890079, ss5308696350, ss5500983807, ss5789270849 NC_000020.11:35373687::A NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
379540918 NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3706888926 NC_000020.11:35373690::A NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4352890080, ss5789270851 NC_000020.11:35373687::AA NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
379540918 NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4352890081 NC_000020.11:35373687::AAA NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4352890082 NC_000020.11:35373687::AAAA NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4352890083 NC_000020.11:35373687::AAAAA NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4352890084 NC_000020.11:35373687::AAAAAA NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4352890085 NC_000020.11:35373687::AAAAAAA NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3706888925 NC_000020.11:35373690::AAAAAAA NC_000020.11:35373687:AAAAAAAAAAAA…

NC_000020.11:35373687:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs5841203

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