SNP Links for Gene (Select 124871) - SNP

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Select item 14915276251.

rs1491527625 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:49254660 (GRCh38)
17:47332022 (GRCh37)
Canonical SPDI:: NC_000017.11:49254657:CTCT:CT
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.000337/4 (ALFA)
-=0.000417/54 (GnomAD)
HGVS:: NC_000017.11:g.49254658CT[1], NC_000017.10:g.47332020CT[1]

Select item 14914422862.

rs1491442286 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14914130683.

rs1491413068 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGTGT [Show Flanks]
Chromosome:: 17:49255336 (GRCh38)
17:47332699 (GRCh37)
Canonical SPDI:: NC_000017.11:49255336:T:TGT,NC_000017.11:49255336:T:TGTGTGT
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGT=0./0 (ALFA)
HGVS:: NC_000017.11:g.49255337_49255338insGT, NC_000017.11:g.49255338GT[3], NC_000017.10:g.47332699_47332700insGT, NC_000017.10:g.47332700GT[3], NM_001007529.1:c.*732_*733insGT, NM_001007529.1:c.*733GT[3]

Select item 14913282034.

rs1491328203 has merged into rs143455532 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:49255352 (GRCh38)
17:47332714 (GRCh37)
Canonical SPDI:: NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:49255338:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.0054/27 (1000Genomes)
HGVS:: NC_000017.11:g.49255340GT[6], NC_000017.11:g.49255340GT[7], NC_000017.11:g.49255340GT[8], NC_000017.11:g.49255340GT[9], NC_000017.11:g.49255340GT[10], NC_000017.11:g.49255340GT[11], NC_000017.11:g.49255340GT[13], NC_000017.11:g.49255340GT[14], NC_000017.11:g.49255340GT[15], NC_000017.11:g.49255340GT[16], NC_000017.11:g.49255340GT[17], NC_000017.11:g.49255340GT[18], NC_000017.10:g.47332702GT[6], NC_000017.10:g.47332702GT[7], NC_000017.10:g.47332702GT[8], NC_000017.10:g.47332702GT[9], NC_000017.10:g.47332702GT[10], NC_000017.10:g.47332702GT[11], NC_000017.10:g.47332702GT[13], NC_000017.10:g.47332702GT[14], NC_000017.10:g.47332702GT[15], NC_000017.10:g.47332702GT[16], NC_000017.10:g.47332702GT[17], NC_000017.10:g.47332702GT[18], NM_001007529.1:c.*735GT[6], NM_001007529.1:c.*735GT[7], NM_001007529.1:c.*735GT[8], NM_001007529.1:c.*735GT[9], NM_001007529.1:c.*735GT[10], NM_001007529.1:c.*735GT[11], NM_001007529.1:c.*735GT[13], NM_001007529.1:c.*735GT[14], NM_001007529.1:c.*735GT[15], NM_001007529.1:c.*735GT[16], NM_001007529.1:c.*735GT[17], NM_001007529.1:c.*735GT[18]

Select item 14912789025.

rs1491278902 has merged into rs35611716 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:49254669 (GRCh38)
17:47332031 (GRCh37)
Canonical SPDI:: NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49254660:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.49254669_49254683del, NC_000017.11:g.49254670_49254683del, NC_000017.11:g.49254671_49254683del, NC_000017.11:g.49254672_49254683del, NC_000017.11:g.49254674_49254683del, NC_000017.11:g.49254676_49254683del, NC_000017.11:g.49254677_49254683del, NC_000017.11:g.49254678_49254683del, NC_000017.11:g.49254679_49254683del, NC_000017.11:g.49254680_49254683del, NC_000017.11:g.49254681_49254683del, NC_000017.11:g.49254682_49254683del, NC_000017.11:g.49254683del, NC_000017.11:g.49254683dup, NC_000017.11:g.49254682_49254683dup, NC_000017.11:g.49254681_49254683dup, NC_000017.11:g.49254680_49254683dup, NC_000017.11:g.49254679_49254683dup, NC_000017.11:g.49254678_49254683dup, NC_000017.11:g.49254677_49254683dup, NC_000017.11:g.49254676_49254683dup, NC_000017.11:g.49254675_49254683dup, NC_000017.11:g.49254666_49254683dup, NC_000017.11:g.49254664_49254683dup, NC_000017.11:g.49254683_49254684insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.47332031_47332045del, NC_000017.10:g.47332032_47332045del, NC_000017.10:g.47332033_47332045del, NC_000017.10:g.47332034_47332045del, NC_000017.10:g.47332036_47332045del, NC_000017.10:g.47332038_47332045del, NC_000017.10:g.47332039_47332045del, NC_000017.10:g.47332040_47332045del, NC_000017.10:g.47332041_47332045del, NC_000017.10:g.47332042_47332045del, NC_000017.10:g.47332043_47332045del, NC_000017.10:g.47332044_47332045del, NC_000017.10:g.47332045del, NC_000017.10:g.47332045dup, NC_000017.10:g.47332044_47332045dup, NC_000017.10:g.47332043_47332045dup, NC_000017.10:g.47332042_47332045dup, NC_000017.10:g.47332041_47332045dup, NC_000017.10:g.47332040_47332045dup, NC_000017.10:g.47332039_47332045dup, NC_000017.10:g.47332038_47332045dup, NC_000017.10:g.47332037_47332045dup, NC_000017.10:g.47332028_47332045dup, NC_000017.10:g.47332026_47332045dup, NC_000017.10:g.47332045_47332046insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912128486.

rs1491212848 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:49255338 (GRCh38)
17:47332700 (GRCh37)
Canonical SPDI:: NC_000017.11:49255335:CTCT:CT
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000084/1 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000212/4 (TOMMO)
HGVS:: NC_000017.11:g.49255336CT[1], NC_000017.10:g.47332698CT[1], NM_001007529.1:c.*731CT[1]

Select item 14911418267.

rs1491141826 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14910233418.

rs1491023341 has merged into rs111778755 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:49257965 (GRCh38)
17:47335327 (GRCh37)
Canonical SPDI:: NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:49257954:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.05518/33 (NorthernSweden)
HGVS:: NC_000017.11:g.49257965_49257967del, NC_000017.11:g.49257966_49257967del, NC_000017.11:g.49257967del, NC_000017.11:g.49257967dup, NC_000017.11:g.49257966_49257967dup, NC_000017.11:g.49257965_49257967dup, NC_000017.11:g.49257964_49257967dup, NC_000017.11:g.49257958_49257967dup, NC_000017.10:g.47335327_47335329del, NC_000017.10:g.47335328_47335329del, NC_000017.10:g.47335329del, NC_000017.10:g.47335329dup, NC_000017.10:g.47335328_47335329dup, NC_000017.10:g.47335327_47335329dup, NC_000017.10:g.47335326_47335329dup, NC_000017.10:g.47335320_47335329dup

Select item 14909933449.

rs1490993344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:49252273 (GRCh38)
17:47329635 (GRCh37)
Canonical SPDI:: NC_000017.11:49252272:C:A
Gene:: FLJ40194 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000017.11:g.49252273C>A, NC_000017.10:g.47329635C>A, NM_001007529.1:c.15C>A, NR_034161.1:n.88C>A

Select item 149097218110.

rs1490972181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCA [Show Flanks]
Chromosome:: 17:49246609 (GRCh38)
17:47323972 (GRCh37)
Canonical SPDI:: NC_000017.11:49246609:TGCA:TGCATGCA
Gene:: FLJ40194 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGCATGCA=0./0 (ALFA)
TGCA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49246610_49246613dup, NC_000017.10:g.47323972_47323975dup

Select item 149040937011.

rs1490409370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:49253432 (GRCh38)
17:47330794 (GRCh37)
Canonical SPDI:: NC_000017.11:49253431:A:C
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49253432A>C, NC_000017.10:g.47330794A>C

Select item 149021830812.

rs1490218308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49254956 (GRCh38)
17:47332318 (GRCh37)
Canonical SPDI:: NC_000017.11:49254955:C:T
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49254956C>T, NC_000017.10:g.47332318C>T, NM_001007529.1:c.*351C>T

Select item 148996445113.

rs1489964451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:49247460 (GRCh38)
17:47324822 (GRCh37)
Canonical SPDI:: NC_000017.11:49247459:G:T
Gene:: FLJ40194 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49247460G>T, NC_000017.10:g.47324822G>T

Select item 148970868514.

rs1489708685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49247113 (GRCh38)
17:47324475 (GRCh37)
Canonical SPDI:: NC_000017.11:49247112:A:G
Gene:: FLJ40194 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000045/12 (TOPMED)
G=0.000142/4 (TOMMO)
HGVS:: NC_000017.11:g.49247113A>G, NC_000017.10:g.47324475A>G

Select item 148900664815.

rs1489006648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:49255329 (GRCh38)
17:47332691 (GRCh37)
Canonical SPDI:: NC_000017.11:49255328:A:C
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.49255329A>C, NC_000017.10:g.47332691A>C, NM_001007529.1:c.*724A>C

Select item 148891416116.

rs1488914161 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AGA
Chromosome:: no mapping
Canonical SPDI:

Select item 148883689617.

rs1488836896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:49258823 (GRCh38)
17:47336185 (GRCh37)
Canonical SPDI:: NC_000017.11:49258822:G:A,NC_000017.11:49258822:G:C
Gene:: FLJ40194 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.49258823G>A, NC_000017.11:g.49258823G>C, NC_000017.10:g.47336185G>A, NC_000017.10:g.47336185G>C

Select item 148848519918.

rs1488485199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49248987 (GRCh38)
17:47326349 (GRCh37)
Canonical SPDI:: NC_000017.11:49248986:T:C
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49248987T>C, NC_000017.10:g.47326349T>C

Select item 148842999019.

rs1488429990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:49251930 (GRCh38)
17:47329292 (GRCh37)
Canonical SPDI:: NC_000017.11:49251929:G:A,NC_000017.11:49251929:G:T
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.49251930G>A, NC_000017.11:g.49251930G>T, NC_000017.10:g.47329292G>A, NC_000017.10:g.47329292G>T

Select item 148842273020.

rs1488422730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49250911 (GRCh38)
17:47328273 (GRCh37)
Canonical SPDI:: NC_000017.11:49250910:A:G
Gene:: FLJ40194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49250911A>G, NC_000017.10:g.47328273A>G

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