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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.

rs143433547

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:151458250-151458262 (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
delTA / dupTA / dupTATA
Variation Type
Indel Insertion and Deletion
Frequency
dupTA=0.08921 (2521/28258, 14KJPN)
dupTA=0.08980 (1505/16760, 8.3KJPN)
dupTA=0.12734 (1521/11944, ALFA) (+ 4 more)
dupTA=0.1400 (701/5008, 1000G)
dupTA=0.0666 (122/1832, Korea1K)
dupTA=0.288 (173/600, NorthernSweden)
dupTA=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC36A1 : 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 11944 ATATATATATATA=0.87266 ATATATATATA=0.00000, ATATATATATATATA=0.12734, ATATATATATATATATA=0.00000 0.789015 0.043704 0.167281 32
European Sub 8804 ATATATATATATA=0.8275 ATATATATATA=0.0000, ATATATATATATATA=0.1725, ATATATATATATATATA=0.0000 0.713994 0.059064 0.226942 32
African Sub 2116 ATATATATATATA=1.0000 ATATATATATA=0.0000, ATATATATATATATA=0.0000, ATATATATATATATATA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 86 ATATATATATATA=1.00 ATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATA=0.00 1.0 0.0 0.0 N/A
African American Sub 2030 ATATATATATATA=1.0000 ATATATATATA=0.0000, ATATATATATATATA=0.0000, ATATATATATATATATA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 104 ATATATATATATA=1.000 ATATATATATA=0.000, ATATATATATATATA=0.000, ATATATATATATATATA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 80 ATATATATATATA=1.00 ATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 ATATATATATATA=1.00 ATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 96 ATATATATATATA=1.00 ATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 436 ATATATATATATA=1.000 ATATATATATA=0.000, ATATATATATATATA=0.000, ATATATATATATATATA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 64 ATATATATATATA=1.00 ATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATA=0.00 1.0 0.0 0.0 N/A
Other Sub 324 ATATATATATATA=0.994 ATATATATATA=0.000, ATATATATATATATA=0.006, ATATATATATATATATA=0.000 0.993827 0.006173 0.0 32


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
14KJPN JAPANESE Study-wide 28258 -

No frequency provided

dupTA=0.08921
8.3KJPN JAPANESE Study-wide 16760 -

No frequency provided

dupTA=0.08980
Allele Frequency Aggregator Total Global 11944 (AT)6A=0.87266 delTA=0.00000, dupTA=0.12734, dupTATA=0.00000
Allele Frequency Aggregator European Sub 8804 (AT)6A=0.8275 delTA=0.0000, dupTA=0.1725, dupTATA=0.0000
Allele Frequency Aggregator African Sub 2116 (AT)6A=1.0000 delTA=0.0000, dupTA=0.0000, dupTATA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 436 (AT)6A=1.000 delTA=0.000, dupTA=0.000, dupTATA=0.000
Allele Frequency Aggregator Other Sub 324 (AT)6A=0.994 delTA=0.000, dupTA=0.006, dupTATA=0.000
Allele Frequency Aggregator Asian Sub 104 (AT)6A=1.000 delTA=0.000, dupTA=0.000, dupTATA=0.000
Allele Frequency Aggregator Latin American 1 Sub 96 (AT)6A=1.00 delTA=0.00, dupTA=0.00, dupTATA=0.00
Allele Frequency Aggregator South Asian Sub 64 (AT)6A=1.00 delTA=0.00, dupTA=0.00, dupTATA=0.00
1000Genomes Global Study-wide 5008 -

No frequency provided

dupTA=0.1400
1000Genomes African Sub 1322 -

No frequency provided

dupTA=0.1331
1000Genomes East Asian Sub 1008 -

No frequency provided

dupTA=0.0367
1000Genomes Europe Sub 1006 -

No frequency provided

dupTA=0.2356
1000Genomes South Asian Sub 978 -

No frequency provided

dupTA=0.141
1000Genomes American Sub 694 -

No frequency provided

dupTA=0.163
Korean Genome Project KOREAN Study-wide 1832 -

No frequency provided

dupTA=0.0666
Northern Sweden ACPOP Study-wide 600 -

No frequency provided

dupTA=0.288
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupTA=0.42
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.151458251TA[5]
GRCh38.p14 chr 5 NC_000005.10:g.151458251TA[7]
GRCh38.p14 chr 5 NC_000005.10:g.151458251TA[8]
GRCh37.p13 chr 5 NC_000005.9:g.150837812TA[5]
GRCh37.p13 chr 5 NC_000005.9:g.150837812TA[7]
GRCh37.p13 chr 5 NC_000005.9:g.150837812TA[8]
Gene: SLC36A1, solute carrier family 36 member 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC36A1 transcript variant 2 NM_001308150.2:c.-5-538AT…

NM_001308150.2:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant 3 NM_001308151.2:c.-5-538AT…

NM_001308151.2:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant 4 NM_001349740.2:c.-148-538…

NM_001349740.2:c.-148-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant 1 NM_078483.4:c.-5-538AT[5] N/A Intron Variant
SLC36A1 transcript variant X2 XM_011537580.3:c.14-538AT…

XM_011537580.3:c.14-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X3 XM_011537581.2:c.-5-538AT…

XM_011537581.2:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X10 XM_011537584.3:c.-5-538AT…

XM_011537584.3:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X5 XM_011537585.1:c.-5-538AT…

XM_011537585.1:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X6 XM_011537586.3:c.-5-538AT…

XM_011537586.3:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X21 XM_011537587.4:c.-5-538AT…

XM_011537587.4:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X7 XM_011537589.4:c.-5-538AT…

XM_011537589.4:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X9 XM_011537590.2:c.-5-538AT…

XM_011537590.2:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X11 XM_011537591.2:c.-5-538AT…

XM_011537591.2:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X12 XM_011537592.3:c.-5-538AT…

XM_011537592.3:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X13 XM_017009216.2:c.-5-538AT…

XM_017009216.2:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X18 XM_017009217.2:c.-5-538AT…

XM_017009217.2:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X4 XM_047416921.1:c.-5-538AT…

XM_047416921.1:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X8 XM_047416923.1:c.-5-538AT…

XM_047416923.1:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X14 XM_047416924.1:c.-5-538AT…

XM_047416924.1:c.-5-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X19 XM_047416928.1:c.14-538AT…

XM_047416928.1:c.14-538AT[5]

N/A Intron Variant
SLC36A1 transcript variant X1 XM_047416920.1:c.-450_-43…

XM_047416920.1:c.-450_-438=

N/A 5 Prime UTR Variant
SLC36A1 transcript variant X15 XM_047416925.1:c.-450_-43…

XM_047416925.1:c.-450_-438=

N/A 5 Prime UTR Variant
SLC36A1 transcript variant X16 XM_011537595.3:c.-450_-43…

XM_011537595.3:c.-450_-438=

N/A 5 Prime UTR Variant
SLC36A1 transcript variant X17 XM_047416927.1:c.-450_-43…

XM_047416927.1:c.-450_-438=

N/A 5 Prime UTR Variant
SLC36A1 transcript variant X22 XM_011537596.3:c.-450_-43…

XM_011537596.3:c.-450_-438=

N/A 5 Prime UTR Variant
SLC36A1 transcript variant X23 XM_047416929.1:c.-450_-43…

XM_047416929.1:c.-450_-438=

N/A 5 Prime UTR Variant
SLC36A1 transcript variant X20 XM_006714759.5:c. N/A Genic Upstream Transcript 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 (AT)6A= delTA dupTA dupTATA
GRCh38.p14 chr 5 NC_000005.10:g.151458250_151458262= NC_000005.10:g.151458251TA[5] NC_000005.10:g.151458251TA[7] NC_000005.10:g.151458251TA[8]
GRCh37.p13 chr 5 NC_000005.9:g.150837811_150837823= NC_000005.9:g.150837812TA[5] NC_000005.9:g.150837812TA[7] NC_000005.9:g.150837812TA[8]
SLC36A1 transcript variant X16 XM_011537595.3:c.-450_-438= XM_011537595.3:c.-449TA[5] XM_011537595.3:c.-449TA[7] XM_011537595.3:c.-449TA[8]
SLC36A1 transcript variant X22 XM_011537596.3:c.-450_-438= XM_011537596.3:c.-449TA[5] XM_011537596.3:c.-449TA[7] XM_011537596.3:c.-449TA[8]
SLC36A1 transcript variant X17 XM_047416927.1:c.-450_-438= XM_047416927.1:c.-449TA[5] XM_047416927.1:c.-449TA[7] XM_047416927.1:c.-449TA[8]
SLC36A1 transcript variant X1 XM_047416920.1:c.-450_-438= XM_047416920.1:c.-449TA[5] XM_047416920.1:c.-449TA[7] XM_047416920.1:c.-449TA[8]
SLC36A1 transcript variant X15 XM_047416925.1:c.-450_-438= XM_047416925.1:c.-449TA[5] XM_047416925.1:c.-449TA[7] XM_047416925.1:c.-449TA[8]
SLC36A1 transcript variant X23 XM_047416929.1:c.-450_-438= XM_047416929.1:c.-449TA[5] XM_047416929.1:c.-449TA[7] XM_047416929.1:c.-449TA[8]
SLC36A1 transcript variant 2 NM_001308150.2:c.-5-538= NM_001308150.2:c.-5-538AT[5] NM_001308150.2:c.-5-538AT[7] NM_001308150.2:c.-5-538AT[8]
SLC36A1 transcript variant 3 NM_001308151.2:c.-5-538= NM_001308151.2:c.-5-538AT[5] NM_001308151.2:c.-5-538AT[7] NM_001308151.2:c.-5-538AT[8]
SLC36A1 transcript variant 4 NM_001349740.2:c.-148-538= NM_001349740.2:c.-148-538AT[5] NM_001349740.2:c.-148-538AT[7] NM_001349740.2:c.-148-538AT[8]
SLC36A1 transcript NM_078483.2:c.-5-538= NM_078483.2:c.-5-538AT[5] NM_078483.2:c.-5-538AT[7] NM_078483.2:c.-5-538AT[8]
SLC36A1 transcript variant 1 NM_078483.4:c.-5-538= NM_078483.4:c.-5-538AT[5] NM_078483.4:c.-5-538AT[7] NM_078483.4:c.-5-538AT[8]
SLC36A1 transcript variant X7 XM_005268386.1:c.-5-538= XM_005268386.1:c.-5-538AT[5] XM_005268386.1:c.-5-538AT[7] XM_005268386.1:c.-5-538AT[8]
SLC36A1 transcript variant X2 XM_005268387.1:c.-5-538= XM_005268387.1:c.-5-538AT[5] XM_005268387.1:c.-5-538AT[7] XM_005268387.1:c.-5-538AT[8]
SLC36A1 transcript variant X3 XM_005268388.1:c.-5-538= XM_005268388.1:c.-5-538AT[5] XM_005268388.1:c.-5-538AT[7] XM_005268388.1:c.-5-538AT[8]
SLC36A1 transcript variant X2 XM_011537580.3:c.14-538= XM_011537580.3:c.14-538AT[5] XM_011537580.3:c.14-538AT[7] XM_011537580.3:c.14-538AT[8]
SLC36A1 transcript variant X3 XM_011537581.2:c.-5-538= XM_011537581.2:c.-5-538AT[5] XM_011537581.2:c.-5-538AT[7] XM_011537581.2:c.-5-538AT[8]
SLC36A1 transcript variant X10 XM_011537584.3:c.-5-538= XM_011537584.3:c.-5-538AT[5] XM_011537584.3:c.-5-538AT[7] XM_011537584.3:c.-5-538AT[8]
SLC36A1 transcript variant X5 XM_011537585.1:c.-5-538= XM_011537585.1:c.-5-538AT[5] XM_011537585.1:c.-5-538AT[7] XM_011537585.1:c.-5-538AT[8]
SLC36A1 transcript variant X6 XM_011537586.3:c.-5-538= XM_011537586.3:c.-5-538AT[5] XM_011537586.3:c.-5-538AT[7] XM_011537586.3:c.-5-538AT[8]
SLC36A1 transcript variant X21 XM_011537587.4:c.-5-538= XM_011537587.4:c.-5-538AT[5] XM_011537587.4:c.-5-538AT[7] XM_011537587.4:c.-5-538AT[8]
SLC36A1 transcript variant X7 XM_011537589.4:c.-5-538= XM_011537589.4:c.-5-538AT[5] XM_011537589.4:c.-5-538AT[7] XM_011537589.4:c.-5-538AT[8]
SLC36A1 transcript variant X9 XM_011537590.2:c.-5-538= XM_011537590.2:c.-5-538AT[5] XM_011537590.2:c.-5-538AT[7] XM_011537590.2:c.-5-538AT[8]
SLC36A1 transcript variant X11 XM_011537591.2:c.-5-538= XM_011537591.2:c.-5-538AT[5] XM_011537591.2:c.-5-538AT[7] XM_011537591.2:c.-5-538AT[8]
SLC36A1 transcript variant X12 XM_011537592.3:c.-5-538= XM_011537592.3:c.-5-538AT[5] XM_011537592.3:c.-5-538AT[7] XM_011537592.3:c.-5-538AT[8]
SLC36A1 transcript variant X13 XM_017009216.2:c.-5-538= XM_017009216.2:c.-5-538AT[5] XM_017009216.2:c.-5-538AT[7] XM_017009216.2:c.-5-538AT[8]
SLC36A1 transcript variant X18 XM_017009217.2:c.-5-538= XM_017009217.2:c.-5-538AT[5] XM_017009217.2:c.-5-538AT[7] XM_017009217.2:c.-5-538AT[8]
SLC36A1 transcript variant X4 XM_047416921.1:c.-5-538= XM_047416921.1:c.-5-538AT[5] XM_047416921.1:c.-5-538AT[7] XM_047416921.1:c.-5-538AT[8]
SLC36A1 transcript variant X8 XM_047416923.1:c.-5-538= XM_047416923.1:c.-5-538AT[5] XM_047416923.1:c.-5-538AT[7] XM_047416923.1:c.-5-538AT[8]
SLC36A1 transcript variant X14 XM_047416924.1:c.-5-538= XM_047416924.1:c.-5-538AT[5] XM_047416924.1:c.-5-538AT[7] XM_047416924.1:c.-5-538AT[8]
SLC36A1 transcript variant X19 XM_047416928.1:c.14-538= XM_047416928.1:c.14-538AT[5] XM_047416928.1:c.14-538AT[7] XM_047416928.1:c.14-538AT[8]
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#.

40 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss288665938 May 04, 2012 (137)
2 1000GENOMES ss326777906 May 09, 2011 (134)
3 1000GENOMES ss327009814 May 09, 2011 (134)
4 LUNTER ss551555426 Apr 25, 2013 (138)
5 LUNTER ss551728433 Apr 25, 2013 (138)
6 SSMP ss663571303 Apr 01, 2015 (144)
7 BILGI_BIOE ss666332417 Apr 25, 2013 (138)
8 1000GENOMES ss1374679616 Aug 21, 2014 (142)
9 EVA_GENOME_DK ss1576633945 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1704921673 Jan 10, 2018 (151)
11 EVA_UK10K_TWINSUK ss1704922120 Jan 10, 2018 (151)
12 EVA_UK10K_TWINSUK ss1710237354 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1710237357 Apr 01, 2015 (144)
14 SWEGEN ss2998012471 Nov 08, 2017 (151)
15 SWEGEN ss2998012472 Nov 08, 2017 (151)
16 MCHAISSO ss3066048987 Nov 08, 2017 (151)
17 BIOINF_KMB_FNS_UNIBA ss3645914594 Oct 12, 2018 (152)
18 EVA_DECODE ss3715968602 Jul 13, 2019 (153)
19 EVA_DECODE ss3715968603 Jul 13, 2019 (153)
20 EVA_DECODE ss3715968604 Jul 13, 2019 (153)
21 ACPOP ss3732932401 Jul 13, 2019 (153)
22 PACBIO ss3785285565 Jul 13, 2019 (153)
23 PACBIO ss3790662757 Jul 13, 2019 (153)
24 PACBIO ss3795539807 Jul 13, 2019 (153)
25 KHV_HUMAN_GENOMES ss3807399899 Jul 13, 2019 (153)
26 EVA ss3829571379 Apr 26, 2020 (154)
27 EVA ss3838258780 Apr 26, 2020 (154)
28 EVA ss3843701919 Apr 26, 2020 (154)
29 KOGIC ss3957909246 Apr 26, 2020 (154)
30 GNOMAD ss4131778877 Apr 26, 2021 (155)
31 GNOMAD ss4131778878 Apr 26, 2021 (155)
32 GNOMAD ss4131778879 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5174766734 Apr 26, 2021 (155)
34 1000G_HIGH_COVERAGE ss5266325268 Oct 13, 2022 (156)
35 1000G_HIGH_COVERAGE ss5266325269 Oct 13, 2022 (156)
36 HUGCELL_USP ss5464241815 Oct 13, 2022 (156)
37 TOMMO_GENOMICS ss5712027060 Oct 13, 2022 (156)
38 YY_MCH ss5806882402 Oct 13, 2022 (156)
39 EVA ss5835828031 Oct 13, 2022 (156)
40 EVA ss5835828032 Oct 13, 2022 (156)
41 1000Genomes NC_000005.9 - 150837811 Oct 12, 2018 (152)
42 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16396765 (NC_000005.9:150837810:AT: 42/3854)
Row 16396766 (NC_000005.9:150837810::AT 1029/3854)

- Oct 12, 2018 (152)
43 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16396765 (NC_000005.9:150837810:AT: 42/3854)
Row 16396766 (NC_000005.9:150837810::AT 1029/3854)

- Oct 12, 2018 (152)
44 The Danish reference pan genome NC_000005.9 - 150837811 Apr 26, 2020 (154)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 208412061 (NC_000005.10:151458249::AT 28262/133972)
Row 208412062 (NC_000005.10:151458249::ATAT 20/134090)
Row 208412063 (NC_000005.10:151458249:AT: 8/134068)

- Apr 26, 2021 (155)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 208412061 (NC_000005.10:151458249::AT 28262/133972)
Row 208412062 (NC_000005.10:151458249::ATAT 20/134090)
Row 208412063 (NC_000005.10:151458249:AT: 8/134068)

- Apr 26, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 208412061 (NC_000005.10:151458249::AT 28262/133972)
Row 208412062 (NC_000005.10:151458249::ATAT 20/134090)
Row 208412063 (NC_000005.10:151458249:AT: 8/134068)

- Apr 26, 2021 (155)
48 Korean Genome Project NC_000005.10 - 151458250 Apr 26, 2020 (154)
49 Northern Sweden NC_000005.9 - 150837811 Jul 13, 2019 (153)
50 8.3KJPN NC_000005.9 - 150837811 Apr 26, 2021 (155)
51 14KJPN NC_000005.10 - 151458250 Oct 13, 2022 (156)
52 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16396765 (NC_000005.9:150837810:AT: 28/3708)
Row 16396766 (NC_000005.9:150837810::AT 915/3708)

- Oct 12, 2018 (152)
53 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16396765 (NC_000005.9:150837810:AT: 28/3708)
Row 16396766 (NC_000005.9:150837810::AT 915/3708)

- Oct 12, 2018 (152)
54 ALFA NC_000005.10 - 151458250 Apr 26, 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)
rs369214202 May 15, 2013 (138)
rs796382406 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1704921673, ss1704922120, ss5835828032 NC_000005.9:150837810:AT: NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATA

(self)
ss3715968604, ss4131778879 NC_000005.10:151458249:AT: NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATA

(self)
13650672743 NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATA

NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATA

(self)
ss326777906, ss327009814, ss551555426, ss551728433 NC_000005.8:150818003::AT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

(self)
ss288665938 NC_000005.8:150818016::TA NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

(self)
29466562, 1035795, 6217266, 32736041, ss663571303, ss666332417, ss1374679616, ss1576633945, ss2998012471, ss3732932401, ss3785285565, ss3790662757, ss3795539807, ss3829571379, ss3838258780, ss5174766734, ss5835828031 NC_000005.9:150837810::AT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

(self)
ss1710237354, ss1710237357 NC_000005.9:150837812::AT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

(self)
14287247, 45864164, ss3066048987, ss3645914594, ss3807399899, ss3843701919, ss3957909246, ss4131778877, ss5266325268, ss5464241815, ss5712027060, ss5806882402 NC_000005.10:151458249::AT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

(self)
13650672743 NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

(self)
ss3715968603 NC_000005.10:151458251::AT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA

(self)
ss2998012472 NC_000005.9:150837810::ATAT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATATA

(self)
ss4131778878, ss5266325269 NC_000005.10:151458249::ATAT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATATA

(self)
13650672743 NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATATA

NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATATA

(self)
ss3715968602 NC_000005.10:151458251::ATAT NC_000005.10:151458249:ATATATATATA…

NC_000005.10:151458249:ATATATATATATA:ATATATATATATATATA

(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 rs143433547

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