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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.

rs10601812

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:34677161-34677179 (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)12 / del(A)9 / del(A)6 / del…

del(A)12 / del(A)9 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAAA / dup(A)6

Variation Type
Indel Insertion and Deletion
Frequency
(A)19=0.1452 (727/5008, 1000G)
del(A)12=0.00 (0/72, ALFA)
del(A)9=0.00 (0/72, ALFA) (+ 6 more)
del(A)4=0.00 (0/72, ALFA)
delAAA=0.00 (0/72, ALFA)
delAA=0.00 (0/72, ALFA)
delA=0.00 (0/72, ALFA)
dupA=0.00 (0/72, ALFA)
dupAAA=0.00 (0/72, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF302 : 5 Prime UTR Variant
SCGB2B2 : 2KB Upstream Variant
SCGB1B2P : 2KB Upstream Variant (+ 1 more)
ZNF807P : 2KB Upstream 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 72 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
European Sub 20 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Asian Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 4 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 44 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 2 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 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)19=0.1452 delAA=0.8548
1000Genomes African Sub 1322 (A)19=0.0378 delAA=0.9622
1000Genomes East Asian Sub 1008 (A)19=0.2817 delAA=0.7183
1000Genomes Europe Sub 1006 (A)19=0.0646 delAA=0.9354
1000Genomes South Asian Sub 978 (A)19=0.137 delAA=0.863
1000Genomes American Sub 694 (A)19=0.280 delAA=0.720
Allele Frequency Aggregator Total Global 72 (A)19=1.00 del(A)12=0.00, del(A)9=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator Latin American 2 Sub 44 (A)19=1.00 del(A)12=0.00, del(A)9=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator European Sub 20 (A)19=1.00 del(A)12=0.00, del(A)9=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 6 (A)19=1.0 del(A)12=0.0, del(A)9=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAAA=0.0
Allele Frequency Aggregator Other Sub 2 (A)19=1.0 del(A)12=0.0, del(A)9=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAAA=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)19=0 del(A)12=0, del(A)9=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAAA=0
Allele Frequency Aggregator South Asian Sub 0 (A)19=0 del(A)12=0, del(A)9=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAAA=0
Allele Frequency Aggregator African Sub 0 (A)19=0 del(A)12=0, del(A)9=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAAA=0
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 19 NC_000019.10:g.34677168_34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677171_34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677174_34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677175_34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677176_34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677177_34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677178_34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677179del
GRCh38.p14 chr 19 NC_000019.10:g.34677179dup
GRCh38.p14 chr 19 NC_000019.10:g.34677177_34677179dup
GRCh38.p14 chr 19 NC_000019.10:g.34677174_34677179dup
GRCh37.p13 chr 19 NC_000019.9:g.35168073_35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168076_35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168079_35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168080_35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168081_35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168082_35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168083_35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168084del
GRCh37.p13 chr 19 NC_000019.9:g.35168084dup
GRCh37.p13 chr 19 NC_000019.9:g.35168082_35168084dup
GRCh37.p13 chr 19 NC_000019.9:g.35168079_35168084dup
ZNF302 RefSeqGene NG_033997.1:g.4530_4541del
ZNF302 RefSeqGene NG_033997.1:g.4533_4541del
ZNF302 RefSeqGene NG_033997.1:g.4536_4541del
ZNF302 RefSeqGene NG_033997.1:g.4537_4541del
ZNF302 RefSeqGene NG_033997.1:g.4538_4541del
ZNF302 RefSeqGene NG_033997.1:g.4539_4541del
ZNF302 RefSeqGene NG_033997.1:g.4540_4541del
ZNF302 RefSeqGene NG_033997.1:g.4541del
ZNF302 RefSeqGene NG_033997.1:g.4541dup
ZNF302 RefSeqGene NG_033997.1:g.4539_4541dup
ZNF302 RefSeqGene NG_033997.1:g.4536_4541dup
Gene: ZNF302, zinc finger protein 302 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF302 transcript variant 2 NM_001012320.3:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 3 NM_001289181.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 4 NM_001289182.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 5 NM_001289183.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 6 NM_001289184.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 7 NM_001289185.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 8 NM_001289186.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 9 NM_001289187.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 10 NM_001289188.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 11 NM_001289189.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 12 NM_001289190.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 13 NM_001289191.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 14 NM_001289192.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 1 NM_018443.4:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 15 NM_018675.3:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant 16 NR_110322.2:n. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X6 XM_047439093.1:c.-458_-44…

XM_047439093.1:c.-458_-440=

N/A 5 Prime UTR Variant
ZNF302 transcript variant X8 XM_047439094.1:c.-458_-44…

XM_047439094.1:c.-458_-440=

N/A 5 Prime UTR Variant
ZNF302 transcript variant X10 XM_047439096.1:c.-458_-44…

XM_047439096.1:c.-458_-440=

N/A 5 Prime UTR Variant
ZNF302 transcript variant X17 XM_011527111.4:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X2 XM_017026978.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X3 XM_017026979.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X4 XM_017026980.3:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X5 XM_017026981.3:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X7 XM_017026982.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X12 XM_017026983.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X14 XM_017026985.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X16 XM_017026986.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X1 XM_024451603.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X13 XM_024451606.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X15 XM_024451607.2:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X9 XM_047439095.1:c. N/A Genic Upstream Transcript Variant
ZNF302 transcript variant X11 XM_047439097.1:c. N/A Genic Upstream Transcript Variant
Gene: SCGB2B2, secretoglobin family 2B member 2 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
SCGB2B2 transcript variant 1 NM_001025591.4:c. N/A Upstream Transcript Variant
SCGB2B2 transcript variant 2 NR_170946.1:n. N/A Upstream Transcript Variant
SCGB2B2 transcript variant 3 NR_170947.1:n. N/A Upstream Transcript Variant
SCGB2B2 transcript variant 4 NR_170948.1:n. N/A Upstream Transcript Variant
SCGB2B2 transcript variant 5 NR_170949.1:n. N/A N/A
SCGB2B2 transcript variant 6 NR_170950.1:n. N/A N/A
SCGB2B2 transcript variant 7 NR_170951.1:n. N/A N/A
Gene: SCGB1B2P, secretoglobin family 1B member 2, pseudogene (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
SCGB1B2P transcript variant 1 NR_027620.4:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 2 NR_170957.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 3 NR_170958.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 4 NR_170959.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 5 NR_170960.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 6 NR_170961.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 7 NR_170962.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 8 NR_170963.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 9 NR_170964.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 10 NR_170965.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 11 NR_170966.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 12 NR_170967.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 13 NR_170968.1:n. N/A Upstream Transcript Variant
SCGB1B2P transcript variant 14 NR_170969.1:n. N/A Upstream Transcript Variant
Gene: ZNF807P, zinc finger protein 807, pseudogene (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
ZNF807P transcript variant 1 NR_146880.2:n. N/A Upstream Transcript Variant
ZNF807P transcript variant 2 NR_170975.1:n. N/A 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 (A)19= del(A)12 del(A)9 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAAA dup(A)6
GRCh38.p14 chr 19 NC_000019.10:g.34677161_34677179= NC_000019.10:g.34677168_34677179del NC_000019.10:g.34677171_34677179del NC_000019.10:g.34677174_34677179del NC_000019.10:g.34677175_34677179del NC_000019.10:g.34677176_34677179del NC_000019.10:g.34677177_34677179del NC_000019.10:g.34677178_34677179del NC_000019.10:g.34677179del NC_000019.10:g.34677179dup NC_000019.10:g.34677177_34677179dup NC_000019.10:g.34677174_34677179dup
GRCh37.p13 chr 19 NC_000019.9:g.35168066_35168084= NC_000019.9:g.35168073_35168084del NC_000019.9:g.35168076_35168084del NC_000019.9:g.35168079_35168084del NC_000019.9:g.35168080_35168084del NC_000019.9:g.35168081_35168084del NC_000019.9:g.35168082_35168084del NC_000019.9:g.35168083_35168084del NC_000019.9:g.35168084del NC_000019.9:g.35168084dup NC_000019.9:g.35168082_35168084dup NC_000019.9:g.35168079_35168084dup
ZNF302 RefSeqGene NG_033997.1:g.4523_4541= NG_033997.1:g.4530_4541del NG_033997.1:g.4533_4541del NG_033997.1:g.4536_4541del NG_033997.1:g.4537_4541del NG_033997.1:g.4538_4541del NG_033997.1:g.4539_4541del NG_033997.1:g.4540_4541del NG_033997.1:g.4541del NG_033997.1:g.4541dup NG_033997.1:g.4539_4541dup NG_033997.1:g.4536_4541dup
ZNF302 transcript variant X6 XM_047439093.1:c.-458_-440= XM_047439093.1:c.-451_-440del XM_047439093.1:c.-448_-440del XM_047439093.1:c.-445_-440del XM_047439093.1:c.-444_-440del XM_047439093.1:c.-443_-440del XM_047439093.1:c.-442_-440del XM_047439093.1:c.-441_-440del XM_047439093.1:c.-440del XM_047439093.1:c.-440dup XM_047439093.1:c.-442_-440dup XM_047439093.1:c.-445_-440dup
ZNF302 transcript variant X8 XM_047439094.1:c.-458_-440= XM_047439094.1:c.-451_-440del XM_047439094.1:c.-448_-440del XM_047439094.1:c.-445_-440del XM_047439094.1:c.-444_-440del XM_047439094.1:c.-443_-440del XM_047439094.1:c.-442_-440del XM_047439094.1:c.-441_-440del XM_047439094.1:c.-440del XM_047439094.1:c.-440dup XM_047439094.1:c.-442_-440dup XM_047439094.1:c.-445_-440dup
ZNF302 transcript variant X10 XM_047439096.1:c.-458_-440= XM_047439096.1:c.-451_-440del XM_047439096.1:c.-448_-440del XM_047439096.1:c.-445_-440del XM_047439096.1:c.-444_-440del XM_047439096.1:c.-443_-440del XM_047439096.1:c.-442_-440del XM_047439096.1:c.-441_-440del XM_047439096.1:c.-440del XM_047439096.1:c.-440dup XM_047439096.1:c.-442_-440dup XM_047439096.1:c.-445_-440dup
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#.

63 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41052766 Mar 15, 2006 (126)
2 HGSV ss81949724 Dec 15, 2007 (130)
3 HGSV ss81965338 Dec 15, 2007 (130)
4 HGSV ss83635191 Dec 15, 2007 (130)
5 HUMANGENOME_JCVI ss95727417 Feb 05, 2009 (130)
6 BUSHMAN ss193508611 Mar 15, 2016 (147)
7 PJP ss294961278 Aug 21, 2014 (142)
8 PJP ss294961279 May 09, 2011 (142)
9 1000GENOMES ss1378113106 Aug 21, 2014 (142)
10 EVA_UK10K_TWINSUK ss1709189039 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1709189048 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1710789765 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1710789766 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1710789767 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1710789768 Apr 01, 2015 (144)
16 SWEGEN ss3017408208 Nov 08, 2017 (151)
17 MCHAISSO ss3063914826 Nov 08, 2017 (151)
18 MCHAISSO ss3064762638 Nov 08, 2017 (151)
19 MCHAISSO ss3064762639 Nov 08, 2017 (151)
20 MCHAISSO ss3065711265 Nov 08, 2017 (151)
21 BIOINF_KMB_FNS_UNIBA ss3645519063 Oct 12, 2018 (152)
22 URBANLAB ss3650909823 Oct 12, 2018 (152)
23 EVA_DECODE ss3702695118 Jul 13, 2019 (153)
24 EVA_DECODE ss3702695119 Jul 13, 2019 (153)
25 EVA_DECODE ss3702695120 Jul 13, 2019 (153)
26 EVA_DECODE ss3702695121 Jul 13, 2019 (153)
27 PACBIO ss3788519888 Jul 13, 2019 (153)
28 PACBIO ss3793432447 Jul 13, 2019 (153)
29 PACBIO ss3798319196 Jul 13, 2019 (153)
30 KHV_HUMAN_GENOMES ss3821269202 Jul 13, 2019 (153)
31 EVA ss3835444000 Apr 27, 2020 (154)
32 GNOMAD ss4330597908 Apr 27, 2021 (155)
33 GNOMAD ss4330597909 Apr 27, 2021 (155)
34 GNOMAD ss4330597910 Apr 27, 2021 (155)
35 GNOMAD ss4330597911 Apr 27, 2021 (155)
36 GNOMAD ss4330597912 Apr 27, 2021 (155)
37 GNOMAD ss4330597913 Apr 27, 2021 (155)
38 GNOMAD ss4330597914 Apr 27, 2021 (155)
39 GNOMAD ss4330597915 Apr 27, 2021 (155)
40 GNOMAD ss4330597916 Apr 27, 2021 (155)
41 GNOMAD ss4330597917 Apr 27, 2021 (155)
42 TOMMO_GENOMICS ss5227575440 Apr 27, 2021 (155)
43 TOMMO_GENOMICS ss5227575441 Apr 27, 2021 (155)
44 TOMMO_GENOMICS ss5227575442 Apr 27, 2021 (155)
45 TOMMO_GENOMICS ss5227575443 Apr 27, 2021 (155)
46 1000G_HIGH_COVERAGE ss5307116457 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5307116458 Oct 16, 2022 (156)
48 1000G_HIGH_COVERAGE ss5307116459 Oct 16, 2022 (156)
49 1000G_HIGH_COVERAGE ss5307116460 Oct 16, 2022 (156)
50 HUGCELL_USP ss5499659654 Oct 16, 2022 (156)
51 HUGCELL_USP ss5499659655 Oct 16, 2022 (156)
52 HUGCELL_USP ss5499659656 Oct 16, 2022 (156)
53 EVA ss5512092019 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5786148228 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5786148229 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5786148230 Oct 16, 2022 (156)
57 TOMMO_GENOMICS ss5786148231 Oct 16, 2022 (156)
58 TOMMO_GENOMICS ss5786148232 Oct 16, 2022 (156)
59 EVA ss5840499990 Oct 16, 2022 (156)
60 EVA ss5840499991 Oct 16, 2022 (156)
61 EVA ss5840499992 Oct 16, 2022 (156)
62 EVA ss5852274794 Oct 16, 2022 (156)
63 EVA ss5927964094 Oct 16, 2022 (156)
64 1000Genomes NC_000019.9 - 35168066 Oct 12, 2018 (152)
65 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42332357 (NC_000019.9:35168066:AA: 931/3854)
Row 42332358 (NC_000019.9:35168065:AAAA: 154/3854)

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

Submission ignored due to conflicting rows:
Row 42332357 (NC_000019.9:35168066:AA: 931/3854)
Row 42332358 (NC_000019.9:35168065:AAAA: 154/3854)

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

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

Submission ignored due to conflicting rows:
Row 538994432 (NC_000019.10:34677160::A 95/115040)
Row 538994433 (NC_000019.10:34677160::AAA 0/115048)
Row 538994434 (NC_000019.10:34677160::AAAAAA 1/115048)...

- Apr 27, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 85544747 (NC_000019.9:35168065:AA: 10809/16624)
Row 85544748 (NC_000019.9:35168065:A: 495/16624)
Row 85544749 (NC_000019.9:35168065:AAA: 29/16624)...

- Apr 27, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 85544747 (NC_000019.9:35168065:AA: 10809/16624)
Row 85544748 (NC_000019.9:35168065:A: 495/16624)
Row 85544749 (NC_000019.9:35168065:AAA: 29/16624)...

- Apr 27, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 85544747 (NC_000019.9:35168065:AA: 10809/16624)
Row 85544748 (NC_000019.9:35168065:A: 495/16624)
Row 85544749 (NC_000019.9:35168065:AAA: 29/16624)...

- Apr 27, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 85544747 (NC_000019.9:35168065:AA: 10809/16624)
Row 85544748 (NC_000019.9:35168065:A: 495/16624)
Row 85544749 (NC_000019.9:35168065:AAA: 29/16624)...

- Apr 27, 2021 (155)
81 14KJPN

Submission ignored due to conflicting rows:
Row 119985332 (NC_000019.10:34677160:AA: 18951/28232)
Row 119985333 (NC_000019.10:34677160:A: 856/28232)
Row 119985334 (NC_000019.10:34677160::A 15/28232)...

- Oct 16, 2022 (156)
82 14KJPN

Submission ignored due to conflicting rows:
Row 119985332 (NC_000019.10:34677160:AA: 18951/28232)
Row 119985333 (NC_000019.10:34677160:A: 856/28232)
Row 119985334 (NC_000019.10:34677160::A 15/28232)...

- Oct 16, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 119985332 (NC_000019.10:34677160:AA: 18951/28232)
Row 119985333 (NC_000019.10:34677160:A: 856/28232)
Row 119985334 (NC_000019.10:34677160::A 15/28232)...

- Oct 16, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 119985332 (NC_000019.10:34677160:AA: 18951/28232)
Row 119985333 (NC_000019.10:34677160:A: 856/28232)
Row 119985334 (NC_000019.10:34677160::A 15/28232)...

- Oct 16, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 119985332 (NC_000019.10:34677160:AA: 18951/28232)
Row 119985333 (NC_000019.10:34677160:A: 856/28232)
Row 119985334 (NC_000019.10:34677160::A 15/28232)...

- Oct 16, 2022 (156)
86 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42332356 (NC_000019.9:35168067:AA: 2817/3708)
Row 42332357 (NC_000019.9:35168066:AAA: 770/3708)
Row 42332358 (NC_000019.9:35168065:AAAA: 121/3708)

- Apr 27, 2020 (154)
87 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 42332357 (NC_000019.9:35168066:AA: 770/3708)
Row 42332358 (NC_000019.9:35168065:AAAA: 121/3708)

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

Submission ignored due to conflicting rows:
Row 42332357 (NC_000019.9:35168066:AA: 770/3708)
Row 42332358 (NC_000019.9:35168065:AAAA: 121/3708)

- Oct 12, 2018 (152)
89 ALFA NC_000019.10 - 34677161 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)
rs67151479 May 11, 2012 (137)
rs59248277 May 25, 2008 (130)
rs149542242 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5227575443 NC_000019.9:35168065:AAAAAAAAAAAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
ss4330597917, ss5786148232 NC_000019.10:34677160:AAAAAAAAAAAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4330597916 NC_000019.10:34677160:AAAAAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4330597915 NC_000019.10:34677160:AAAAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1709189039, ss1709189048, ss5840499992 NC_000019.9:35168065:AAAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3702695121, ss4330597914 NC_000019.10:34677160:AAAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3017408208, ss5227575442, ss5840499991 NC_000019.9:35168065:AAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1710789767, ss1710789768 NC_000019.9:35168066:AAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4330597913, ss5307116459, ss5499659655, ss5786148231 NC_000019.10:34677160:AAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3702695120 NC_000019.10:34677161:AAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss294961278 NC_000019.8:39859905:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss81949724, ss81965338, ss83635191, ss294961279 NC_000019.8:39859922:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
76425845, ss1378113106, ss3788519888, ss3793432447, ss3798319196, ss3835444000, ss5227575440, ss5512092019, ss5840499990 NC_000019.9:35168065:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
NC_000019.9:35168066:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710789765, ss1710789766 NC_000019.9:35168067:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3063914826, ss3064762638, ss3064762639, ss3065711265, ss3645519063, ss3650909823, ss3821269202, ss4330597912, ss5307116457, ss5499659654, ss5786148228, ss5852274794, ss5927964094 NC_000019.10:34677160:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3702695119 NC_000019.10:34677162:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss193508611 NT_011109.16:7436283:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss41052766, ss95727417 NT_011109.16:7436300:AA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5227575441 NC_000019.9:35168065:A: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4330597911, ss5307116458, ss5499659656, ss5786148229 NC_000019.10:34677160:A: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3702695118 NC_000019.10:34677163:A: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4330597908, ss5307116460, ss5786148230 NC_000019.10:34677160::A NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4330597909 NC_000019.10:34677160::AAA NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2621033515 NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4330597910 NC_000019.10:34677160::AAAAAA NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3292335334 NC_000019.10:34677160:AAAAAAAAA: NC_000019.10:34677160:AAAAAAAAAAAA…

NC_000019.10:34677160:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

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 rs10601812

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