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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.

rs140297030

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:64515712-64515734 (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(CA)5 / del(CA)4 / delCACA / de…

del(CA)5 / del(CA)4 / delCACA / delCA / dupCA / dupCACA / dup(CA)3 / dup(CA)4 / dup(CA)5 / dup(CA)6 / dup(CA)7

Variation Type
Indel Insertion and Deletion
Frequency
dup(CA)3=0.1580 (1532/9695, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGS7BP : 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 9695 ACACACACACACACACACACACA=0.8323 ACACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0012, ACACACACACACACACACACACACACA=0.0014, ACACACACACACACACACACACACACACA=0.1580, ACACACACACACACACACACACACACACACA=0.0065, ACACACACACACACACACACACACACACACACA=0.0005, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0000 0.737995 0.052233 0.209773 32
European Sub 7705 ACACACACACACACACACACACA=0.7896 ACACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0016, ACACACACACACACACACACACACACA=0.0018, ACACACACACACACACACACACACACACA=0.1982, ACACACACACACACACACACACACACACACA=0.0082, ACACACACACACACACACACACACACACACACA=0.0006, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0000 0.669598 0.065814 0.264588 32
African Sub 1456 ACACACACACACACACACACACA=1.0000 ACACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 68 ACACACACACACACACACACACA=1.00 ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
African American Sub 1388 ACACACACACACACACACACACA=1.0000 ACACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 52 ACACACACACACACACACACACA=1.00 ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 38 ACACACACACACACACACACACA=1.00 ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 ACACACACACACACACACACACA=1.00 ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 56 ACACACACACACACACACACACA=1.00 ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 176 ACACACACACACACACACACACA=1.000 ACACACACACACA=0.000, ACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 34 ACACACACACACACACACACACA=1.00 ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Other Sub 216 ACACACACACACACACACACACA=0.977 ACACACACACACA=0.000, ACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.023, ACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACACACACA=0.000 0.962963 0.009259 0.027778 9


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
Allele Frequency Aggregator Total Global 9695 (AC)11A=0.8323 del(CA)5=0.0000, del(CA)4=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0012, dupCACA=0.0014, dup(CA)3=0.1580, dup(CA)4=0.0065, dup(CA)5=0.0005, dup(CA)6=0.0000, dup(CA)7=0.0000
Allele Frequency Aggregator European Sub 7705 (AC)11A=0.7896 del(CA)5=0.0000, del(CA)4=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0016, dupCACA=0.0018, dup(CA)3=0.1982, dup(CA)4=0.0082, dup(CA)5=0.0006, dup(CA)6=0.0000, dup(CA)7=0.0000
Allele Frequency Aggregator African Sub 1456 (AC)11A=1.0000 del(CA)5=0.0000, del(CA)4=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)3=0.0000, dup(CA)4=0.0000, dup(CA)5=0.0000, dup(CA)6=0.0000, dup(CA)7=0.0000
Allele Frequency Aggregator Other Sub 216 (AC)11A=0.977 del(CA)5=0.000, del(CA)4=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.023, dup(CA)4=0.000, dup(CA)5=0.000, dup(CA)6=0.000, dup(CA)7=0.000
Allele Frequency Aggregator Latin American 2 Sub 176 (AC)11A=1.000 del(CA)5=0.000, del(CA)4=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.000, dup(CA)5=0.000, dup(CA)6=0.000, dup(CA)7=0.000
Allele Frequency Aggregator Latin American 1 Sub 56 (AC)11A=1.00 del(CA)5=0.00, del(CA)4=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00
Allele Frequency Aggregator Asian Sub 52 (AC)11A=1.00 del(CA)5=0.00, del(CA)4=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00
Allele Frequency Aggregator South Asian Sub 34 (AC)11A=1.00 del(CA)5=0.00, del(CA)4=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[6]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[7]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[9]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[10]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[12]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[13]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[14]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[15]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[16]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[17]
GRCh38.p14 chr 5 NC_000005.10:g.64515713CA[18]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[6]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[7]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[9]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[10]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[12]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[13]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[14]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[15]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[16]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[17]
GRCh37.p13 chr 5 NC_000005.9:g.63811540CA[18]
Gene: RGS7BP, regulator of G protein signaling 7 binding protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RGS7BP transcript variant 1 NM_001029875.3:c.332+7835…

NM_001029875.3:c.332+7835AC[6]

N/A Intron Variant
RGS7BP transcript variant 2 NM_001271890.2:c. N/A Genic Upstream Transcript Variant
RGS7BP transcript variant 3 NM_001271891.2:c. N/A Genic Upstream Transcript Variant
RGS7BP transcript variant 4 NR_073511.2:n. N/A Genic Upstream Transcript Variant
RGS7BP transcript variant X2 XM_005248502.5:c.332+7835…

XM_005248502.5:c.332+7835AC[6]

N/A Intron Variant
RGS7BP transcript variant X1 XR_948251.4:n. 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 (AC)11A= del(CA)5 del(CA)4 delCACA delCA dupCA dupCACA dup(CA)3 dup(CA)4 dup(CA)5 dup(CA)6 dup(CA)7
GRCh38.p14 chr 5 NC_000005.10:g.64515712_64515734= NC_000005.10:g.64515713CA[6] NC_000005.10:g.64515713CA[7] NC_000005.10:g.64515713CA[9] NC_000005.10:g.64515713CA[10] NC_000005.10:g.64515713CA[12] NC_000005.10:g.64515713CA[13] NC_000005.10:g.64515713CA[14] NC_000005.10:g.64515713CA[15] NC_000005.10:g.64515713CA[16] NC_000005.10:g.64515713CA[17] NC_000005.10:g.64515713CA[18]
GRCh37.p13 chr 5 NC_000005.9:g.63811539_63811561= NC_000005.9:g.63811540CA[6] NC_000005.9:g.63811540CA[7] NC_000005.9:g.63811540CA[9] NC_000005.9:g.63811540CA[10] NC_000005.9:g.63811540CA[12] NC_000005.9:g.63811540CA[13] NC_000005.9:g.63811540CA[14] NC_000005.9:g.63811540CA[15] NC_000005.9:g.63811540CA[16] NC_000005.9:g.63811540CA[17] NC_000005.9:g.63811540CA[18]
RGS7BP transcript variant 1 NM_001029875.2:c.332+7835= NM_001029875.2:c.332+7835AC[6] NM_001029875.2:c.332+7835AC[7] NM_001029875.2:c.332+7835AC[9] NM_001029875.2:c.332+7835AC[10] NM_001029875.2:c.332+7835AC[12] NM_001029875.2:c.332+7835AC[13] NM_001029875.2:c.332+7835AC[14] NM_001029875.2:c.332+7835AC[15] NM_001029875.2:c.332+7835AC[16] NM_001029875.2:c.332+7835AC[17] NM_001029875.2:c.332+7835AC[18]
RGS7BP transcript variant 1 NM_001029875.3:c.332+7835= NM_001029875.3:c.332+7835AC[6] NM_001029875.3:c.332+7835AC[7] NM_001029875.3:c.332+7835AC[9] NM_001029875.3:c.332+7835AC[10] NM_001029875.3:c.332+7835AC[12] NM_001029875.3:c.332+7835AC[13] NM_001029875.3:c.332+7835AC[14] NM_001029875.3:c.332+7835AC[15] NM_001029875.3:c.332+7835AC[16] NM_001029875.3:c.332+7835AC[17] NM_001029875.3:c.332+7835AC[18]
RGS7BP transcript variant X1 XM_005248502.1:c.332+7835= XM_005248502.1:c.332+7835AC[6] XM_005248502.1:c.332+7835AC[7] XM_005248502.1:c.332+7835AC[9] XM_005248502.1:c.332+7835AC[10] XM_005248502.1:c.332+7835AC[12] XM_005248502.1:c.332+7835AC[13] XM_005248502.1:c.332+7835AC[14] XM_005248502.1:c.332+7835AC[15] XM_005248502.1:c.332+7835AC[16] XM_005248502.1:c.332+7835AC[17] XM_005248502.1:c.332+7835AC[18]
RGS7BP transcript variant X2 XM_005248502.5:c.332+7835= XM_005248502.5:c.332+7835AC[6] XM_005248502.5:c.332+7835AC[7] XM_005248502.5:c.332+7835AC[9] XM_005248502.5:c.332+7835AC[10] XM_005248502.5:c.332+7835AC[12] XM_005248502.5:c.332+7835AC[13] XM_005248502.5:c.332+7835AC[14] XM_005248502.5:c.332+7835AC[15] XM_005248502.5:c.332+7835AC[16] XM_005248502.5:c.332+7835AC[17] XM_005248502.5:c.332+7835AC[18]
RGS7BP transcript variant X2 XM_005248503.1:c.149+8923= XM_005248503.1:c.149+8923AC[6] XM_005248503.1:c.149+8923AC[7] XM_005248503.1:c.149+8923AC[9] XM_005248503.1:c.149+8923AC[10] XM_005248503.1:c.149+8923AC[12] XM_005248503.1:c.149+8923AC[13] XM_005248503.1:c.149+8923AC[14] XM_005248503.1:c.149+8923AC[15] XM_005248503.1:c.149+8923AC[16] XM_005248503.1:c.149+8923AC[17] XM_005248503.1:c.149+8923AC[18]
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#.

72 SubSNP, 35 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5360157 Oct 12, 2018 (152)
2 GMI ss288634190 Oct 12, 2018 (152)
3 1000GENOMES ss326714582 May 09, 2011 (134)
4 LUNTER ss551503560 Apr 25, 2013 (138)
5 LUNTER ss551659763 Apr 25, 2013 (138)
6 SSMP ss663614780 Apr 01, 2015 (144)
7 BILGI_BIOE ss666312552 Apr 25, 2013 (138)
8 DDI ss1536464617 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1704697458 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1704697459 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1704697659 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1704697662 Apr 01, 2015 (144)
13 SWEGEN ss2997040400 Nov 08, 2017 (151)
14 SWEGEN ss2997040401 Nov 08, 2017 (151)
15 SWEGEN ss2997040402 Nov 08, 2017 (151)
16 SWEGEN ss2997040404 Nov 08, 2017 (151)
17 SWEGEN ss2997040405 Nov 08, 2017 (151)
18 MCHAISSO ss3066020510 Nov 08, 2017 (151)
19 EVA_DECODE ss3714812469 Jul 13, 2019 (153)
20 EVA_DECODE ss3714812470 Jul 13, 2019 (153)
21 EVA_DECODE ss3714812471 Jul 13, 2019 (153)
22 EVA_DECODE ss3714812472 Jul 13, 2019 (153)
23 EVA_DECODE ss3714812473 Jul 13, 2019 (153)
24 EVA_DECODE ss3714812474 Jul 13, 2019 (153)
25 ACPOP ss3732413125 Jul 13, 2019 (153)
26 ACPOP ss3732413126 Jul 13, 2019 (153)
27 ACPOP ss3732413127 Jul 13, 2019 (153)
28 EVA ss3829276996 Apr 26, 2020 (154)
29 EVA ss3838111146 Apr 26, 2020 (154)
30 EVA ss3843551906 Apr 26, 2020 (154)
31 KOGIC ss3956810033 Apr 26, 2020 (154)
32 KOGIC ss3956810034 Apr 26, 2020 (154)
33 KOGIC ss3956810035 Apr 26, 2020 (154)
34 KOGIC ss3956810036 Apr 26, 2020 (154)
35 KOGIC ss3956810037 Apr 26, 2020 (154)
36 GNOMAD ss4105632318 Apr 26, 2021 (155)
37 GNOMAD ss4105632319 Apr 26, 2021 (155)
38 GNOMAD ss4105632320 Apr 26, 2021 (155)
39 GNOMAD ss4105632321 Apr 26, 2021 (155)
40 GNOMAD ss4105632322 Apr 26, 2021 (155)
41 GNOMAD ss4105632323 Apr 26, 2021 (155)
42 GNOMAD ss4105632324 Apr 26, 2021 (155)
43 GNOMAD ss4105632325 Apr 26, 2021 (155)
44 GNOMAD ss4105632326 Apr 26, 2021 (155)
45 GNOMAD ss4105632327 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5172037492 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5172037493 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5172037494 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5172037495 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5172037496 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5172037497 Apr 26, 2021 (155)
52 1000G_HIGH_COVERAGE ss5264204672 Oct 13, 2022 (156)
53 1000G_HIGH_COVERAGE ss5264204673 Oct 13, 2022 (156)
54 1000G_HIGH_COVERAGE ss5264204674 Oct 13, 2022 (156)
55 1000G_HIGH_COVERAGE ss5264204675 Oct 13, 2022 (156)
56 1000G_HIGH_COVERAGE ss5264204676 Oct 13, 2022 (156)
57 1000G_HIGH_COVERAGE ss5264204677 Oct 13, 2022 (156)
58 HUGCELL_USP ss5462361651 Oct 13, 2022 (156)
59 HUGCELL_USP ss5462361652 Oct 13, 2022 (156)
60 HUGCELL_USP ss5462361653 Oct 13, 2022 (156)
61 HUGCELL_USP ss5462361654 Oct 13, 2022 (156)
62 HUGCELL_USP ss5462361655 Oct 13, 2022 (156)
63 HUGCELL_USP ss5462361656 Oct 13, 2022 (156)
64 TOMMO_GENOMICS ss5708518113 Oct 13, 2022 (156)
65 TOMMO_GENOMICS ss5708518114 Oct 13, 2022 (156)
66 TOMMO_GENOMICS ss5708518115 Oct 13, 2022 (156)
67 TOMMO_GENOMICS ss5708518116 Oct 13, 2022 (156)
68 TOMMO_GENOMICS ss5708518117 Oct 13, 2022 (156)
69 TOMMO_GENOMICS ss5708518118 Oct 13, 2022 (156)
70 EVA ss5835016040 Oct 13, 2022 (156)
71 EVA ss5835016041 Oct 13, 2022 (156)
72 EVA ss5854839342 Oct 13, 2022 (156)
73 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 14994265 (NC_000005.9:63811538::ACACAC 1139/3854)
Row 14994266 (NC_000005.9:63811538::ACAC 90/3854)

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

Submission ignored due to conflicting rows:
Row 14994265 (NC_000005.9:63811538::ACACAC 1139/3854)
Row 14994266 (NC_000005.9:63811538::ACAC 90/3854)

- Oct 12, 2018 (152)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

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

Submission ignored due to conflicting rows:
Row 190610173 (NC_000005.10:64515711::AC 1789/136946)
Row 190610174 (NC_000005.10:64515711::ACAC 5205/136814)
Row 190610175 (NC_000005.10:64515711::ACACAC 35631/136640)...

- Apr 26, 2021 (155)
85 Korean Genome Project

Submission ignored due to conflicting rows:
Row 13188034 (NC_000005.10:64515713::ACAC 92/1832)
Row 13188035 (NC_000005.10:64515713::ACACAC 298/1832)
Row 13188036 (NC_000005.10:64515713::ACACACAC 18/1832)...

- Apr 26, 2020 (154)
86 Korean Genome Project

Submission ignored due to conflicting rows:
Row 13188034 (NC_000005.10:64515713::ACAC 92/1832)
Row 13188035 (NC_000005.10:64515713::ACACAC 298/1832)
Row 13188036 (NC_000005.10:64515713::ACACACAC 18/1832)...

- Apr 26, 2020 (154)
87 Korean Genome Project

Submission ignored due to conflicting rows:
Row 13188034 (NC_000005.10:64515713::ACAC 92/1832)
Row 13188035 (NC_000005.10:64515713::ACACAC 298/1832)
Row 13188036 (NC_000005.10:64515713::ACACACAC 18/1832)...

- Apr 26, 2020 (154)
88 Korean Genome Project

Submission ignored due to conflicting rows:
Row 13188034 (NC_000005.10:64515713::ACAC 92/1832)
Row 13188035 (NC_000005.10:64515713::ACACAC 298/1832)
Row 13188036 (NC_000005.10:64515713::ACACACAC 18/1832)...

- Apr 26, 2020 (154)
89 Korean Genome Project

Submission ignored due to conflicting rows:
Row 13188034 (NC_000005.10:64515713::ACAC 92/1832)
Row 13188035 (NC_000005.10:64515713::ACACAC 298/1832)
Row 13188036 (NC_000005.10:64515713::ACACACAC 18/1832)...

- Apr 26, 2020 (154)
90 Northern Sweden

Submission ignored due to conflicting rows:
Row 5697990 (NC_000005.9:63811538::ACACAC 180/600)
Row 5697991 (NC_000005.9:63811538::ACACACAC 7/600)
Row 5697992 (NC_000005.9:63811538::ACAC 3/600)

- Jul 13, 2019 (153)
91 Northern Sweden

Submission ignored due to conflicting rows:
Row 5697990 (NC_000005.9:63811538::ACACAC 180/600)
Row 5697991 (NC_000005.9:63811538::ACACACAC 7/600)
Row 5697992 (NC_000005.9:63811538::ACAC 3/600)

- Jul 13, 2019 (153)
92 Northern Sweden

Submission ignored due to conflicting rows:
Row 5697990 (NC_000005.9:63811538::ACACAC 180/600)
Row 5697991 (NC_000005.9:63811538::ACACACAC 7/600)
Row 5697992 (NC_000005.9:63811538::ACAC 3/600)

- Jul 13, 2019 (153)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 30006799 (NC_000005.9:63811538::ACACAC 2723/16760)
Row 30006800 (NC_000005.9:63811538::ACACACAC 240/16760)
Row 30006801 (NC_000005.9:63811538::ACAC 856/16760)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 30006799 (NC_000005.9:63811538::ACACAC 2723/16760)
Row 30006800 (NC_000005.9:63811538::ACACACAC 240/16760)
Row 30006801 (NC_000005.9:63811538::ACAC 856/16760)...

- Apr 26, 2021 (155)
95 8.3KJPN

Submission ignored due to conflicting rows:
Row 30006799 (NC_000005.9:63811538::ACACAC 2723/16760)
Row 30006800 (NC_000005.9:63811538::ACACACAC 240/16760)
Row 30006801 (NC_000005.9:63811538::ACAC 856/16760)...

- Apr 26, 2021 (155)
96 8.3KJPN

Submission ignored due to conflicting rows:
Row 30006799 (NC_000005.9:63811538::ACACAC 2723/16760)
Row 30006800 (NC_000005.9:63811538::ACACACAC 240/16760)
Row 30006801 (NC_000005.9:63811538::ACAC 856/16760)...

- Apr 26, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 30006799 (NC_000005.9:63811538::ACACAC 2723/16760)
Row 30006800 (NC_000005.9:63811538::ACACACAC 240/16760)
Row 30006801 (NC_000005.9:63811538::ACAC 856/16760)...

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 30006799 (NC_000005.9:63811538::ACACAC 2723/16760)
Row 30006800 (NC_000005.9:63811538::ACACACAC 240/16760)
Row 30006801 (NC_000005.9:63811538::ACAC 856/16760)...

- Apr 26, 2021 (155)
99 14KJPN

Submission ignored due to conflicting rows:
Row 42355217 (NC_000005.10:64515711::ACACAC 4534/28258)
Row 42355218 (NC_000005.10:64515711::ACACACAC 423/28258)
Row 42355219 (NC_000005.10:64515711::ACAC 1454/28258)...

- Oct 13, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 42355217 (NC_000005.10:64515711::ACACAC 4534/28258)
Row 42355218 (NC_000005.10:64515711::ACACACAC 423/28258)
Row 42355219 (NC_000005.10:64515711::ACAC 1454/28258)...

- Oct 13, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 42355217 (NC_000005.10:64515711::ACACAC 4534/28258)
Row 42355218 (NC_000005.10:64515711::ACACACAC 423/28258)
Row 42355219 (NC_000005.10:64515711::ACAC 1454/28258)...

- Oct 13, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 42355217 (NC_000005.10:64515711::ACACAC 4534/28258)
Row 42355218 (NC_000005.10:64515711::ACACACAC 423/28258)
Row 42355219 (NC_000005.10:64515711::ACAC 1454/28258)...

- Oct 13, 2022 (156)
103 14KJPN

Submission ignored due to conflicting rows:
Row 42355217 (NC_000005.10:64515711::ACACAC 4534/28258)
Row 42355218 (NC_000005.10:64515711::ACACACAC 423/28258)
Row 42355219 (NC_000005.10:64515711::ACAC 1454/28258)...

- Oct 13, 2022 (156)
104 14KJPN

Submission ignored due to conflicting rows:
Row 42355217 (NC_000005.10:64515711::ACACAC 4534/28258)
Row 42355218 (NC_000005.10:64515711::ACACACAC 423/28258)
Row 42355219 (NC_000005.10:64515711::ACAC 1454/28258)...

- Oct 13, 2022 (156)
105 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 14994265 (NC_000005.9:63811538::ACACAC 1082/3708)
Row 14994266 (NC_000005.9:63811538::ACAC 78/3708)

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

Submission ignored due to conflicting rows:
Row 14994265 (NC_000005.9:63811538::ACACAC 1082/3708)
Row 14994266 (NC_000005.9:63811538::ACAC 78/3708)

- Oct 12, 2018 (152)
107 ALFA NC_000005.10 - 64515712 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4105632327 NC_000005.10:64515711:ACACACACAC: NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACA

(self)
ss4105632326, ss5264204677 NC_000005.10:64515711:ACACACAC: NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACA

(self)
ss4105632325 NC_000005.10:64515711:ACAC: NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACA

(self)
ss3829276996, ss5172037497 NC_000005.9:63811538:AC: NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACA

(self)
ss3714812474, ss3956810036, ss4105632324, ss5462361653, ss5708518116 NC_000005.10:64515711:AC: NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACA

(self)
ss288634190 NC_000005.8:63847317::CA NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss2997040405, ss5172037496 NC_000005.9:63811538::AC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss3066020510, ss4105632318, ss5264204675, ss5462361655, ss5708518117 NC_000005.10:64515711::AC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss3714812473, ss3956810037 NC_000005.10:64515713::AC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss663614780, ss1704697459, ss1704697662, ss2997040404, ss3732413127, ss5172037494, ss5835016041 NC_000005.9:63811538::ACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss4105632319, ss5264204674, ss5462361654, ss5708518115 NC_000005.10:64515711::ACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss3714812472, ss3956810033 NC_000005.10:64515713::ACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss5360157 NT_006713.15:14405920::CACA NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss326714582, ss551503560, ss551659763 NC_000005.8:63847294::ACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss666312552, ss1536464617, ss1704697458, ss1704697659, ss2997040400, ss3732413125, ss3838111146, ss5172037492, ss5835016040 NC_000005.9:63811538::ACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss3843551906, ss4105632320, ss5264204672, ss5462361651, ss5708518113, ss5854839342 NC_000005.10:64515711::ACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss3714812471, ss3956810034 NC_000005.10:64515713::ACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss2997040401, ss3732413126, ss5172037493 NC_000005.9:63811538::ACACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

(self)
ss4105632321, ss5264204673, ss5462361652, ss5708518114 NC_000005.10:64515711::ACACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

(self)
ss3714812470, ss3956810035 NC_000005.10:64515713::ACACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA

(self)
ss2997040402, ss5172037495 NC_000005.9:63811538::ACACACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

(self)
ss4105632322, ss5264204676, ss5462361656, ss5708518118 NC_000005.10:64515711::ACACACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

(self)
ss3714812469 NC_000005.10:64515713::ACACACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA

(self)
ss4105632323 NC_000005.10:64515711::ACACACACACAC NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA

(self)
12754972548 NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA

NC_000005.10:64515711:ACACACACACAC…

NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA

(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 rs140297030

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