SNP Links for Protein (Select 93141212) - SNP

Links from Protein

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Select item 14909727961.

rs1490972796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:165344629 (GRCh38)
2:166201139 (GRCh37)
Canonical SPDI:: NC_000002.12:165344628:G:A,NC_000002.12:165344628:G:C
Gene:: SCN2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165344629G>A, NC_000002.12:g.165344629G>C, NC_000002.11:g.166201139G>A, NC_000002.11:g.166201139G>C, NG_008143.1:g.110228G>A, NG_008143.1:g.110228G>C, NM_021007.3:c.2637G>A, NM_021007.3:c.2637G>C, NM_021007.2:c.2637G>A, NM_021007.2:c.2637G>C, NM_001040143.2:c.2637G>A, NM_001040143.2:c.2637G>C, NM_001040143.1:c.2637G>A, NM_001040143.1:c.2637G>C, NM_001040142.2:c.2637G>A, NM_001040142.2:c.2637G>C, NM_001040142.1:c.2637G>A, NM_001040142.1:c.2637G>C, NM_001371246.1:c.2637G>A, NM_001371246.1:c.2637G>C, NM_001371247.1:c.2637G>A, NM_001371247.1:c.2637G>C

Select item 14906486462.

rs1490648646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:165326978 (GRCh38)
2:166183488 (GRCh37)
Canonical SPDI:: NC_000002.12:165326977:A:G
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165326978A>G, NC_000002.11:g.166183488A>G, NG_008143.1:g.92577A>G, NM_021007.3:c.2143A>G, NM_021007.2:c.2143A>G, NM_001040143.2:c.2143A>G, NM_001040143.1:c.2143A>G, NM_001040142.2:c.2143A>G, NM_001040142.1:c.2143A>G, NM_001371246.1:c.2143A>G, NM_001371247.1:c.2143A>G, NP_066287.2:p.Met715Val, NP_001035233.1:p.Met715Val, NP_001035232.1:p.Met715Val, NP_001358175.1:p.Met715Val, NP_001358176.1:p.Met715Val

Select item 14899063943.

rs1489906394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:165344837 (GRCh38)
2:166201347 (GRCh37)
Canonical SPDI:: NC_000002.12:165344836:G:A
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165344837G>A, NC_000002.11:g.166201347G>A, NG_008143.1:g.110436G>A, NM_021007.3:c.2845G>A, NM_021007.2:c.2845G>A, NM_001040143.2:c.2845G>A, NM_001040143.1:c.2845G>A, NM_001040142.2:c.2845G>A, NM_001040142.1:c.2845G>A, NM_001371246.1:c.2845G>A, NM_001371247.1:c.2845G>A, NP_066287.2:p.Asp949Asn, NP_001035233.1:p.Asp949Asn, NP_001035232.1:p.Asp949Asn, NP_001358175.1:p.Asp949Asn, NP_001358176.1:p.Asp949Asn

Select item 14886714434.

rs1488671443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:165314027 (GRCh38)
2:166170537 (GRCh37)
Canonical SPDI:: NC_000002.12:165314026:C:T
Gene:: SCN2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165314027C>T, NC_000002.11:g.166170537C>T, NG_008143.1:g.79626C>T, NM_021007.3:c.1302C>T, NM_021007.2:c.1302C>T, NM_001040143.2:c.1302C>T, NM_001040143.1:c.1302C>T, NM_001040142.2:c.1302C>T, NM_001040142.1:c.1302C>T, NM_001371246.1:c.1302C>T, NM_001371247.1:c.1302C>T

Select item 14882597445.

rs1488259744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:165386947 (GRCh38)
2:166243457 (GRCh37)
Canonical SPDI:: NC_000002.12:165386946:C:T
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165386947C>T, NC_000002.11:g.166243457C>T, NG_008143.1:g.152546C>T, NM_021007.3:c.4753C>T, NM_021007.2:c.4753C>T, NM_001040143.2:c.4753C>T, NM_001040143.1:c.4753C>T, NM_001040142.2:c.4753C>T, NM_001040142.1:c.4753C>T, NM_001371246.1:c.4753C>T, NM_001371247.1:c.4753C>T, NP_066287.2:p.Leu1585Phe, NP_001035233.1:p.Leu1585Phe, NP_001035232.1:p.Leu1585Phe, NP_001358175.1:p.Leu1585Phe, NP_001358176.1:p.Leu1585Phe

Select item 14858272926.

rs1485827292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:165308744 (GRCh38)
2:166165254 (GRCh37)
Canonical SPDI:: NC_000002.12:165308743:A:C,NC_000002.12:165308743:A:G
Gene:: SCN2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165308744A>C, NC_000002.12:g.165308744A>G, NC_000002.11:g.166165254A>C, NC_000002.11:g.166165254A>G, NG_008143.1:g.74343A>C, NG_008143.1:g.74343A>G, NM_021007.3:c.555A>C, NM_021007.3:c.555A>G, NM_021007.2:c.555A>C, NM_021007.2:c.555A>G, NM_001040143.2:c.555A>C, NM_001040143.2:c.555A>G, NM_001040143.1:c.555A>C, NM_001040143.1:c.555A>G, NM_001040142.2:c.555A>C, NM_001040142.2:c.555A>G, NM_001040142.1:c.555A>C, NM_001040142.1:c.555A>G, NM_001371246.1:c.555A>C, NM_001371246.1:c.555A>G, NM_001371247.1:c.555A>C, NM_001371247.1:c.555A>G

Select item 14831791967.

rs1483179196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:165374749 (GRCh38)
2:166231259 (GRCh37)
Canonical SPDI:: NC_000002.12:165374748:T:A
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.165374749T>A, NC_000002.11:g.166231259T>A, NG_008143.1:g.140348T>A, NM_021007.3:c.4037T>A, NM_021007.2:c.4037T>A, NM_001040143.2:c.4037T>A, NM_001040143.1:c.4037T>A, NM_001040142.2:c.4037T>A, NM_001040142.1:c.4037T>A, NM_001371246.1:c.4037T>A, NM_001371247.1:c.4037T>A, NP_066287.2:p.Ile1346Asn, NP_001035233.1:p.Ile1346Asn, NP_001035232.1:p.Ile1346Asn, NP_001358175.1:p.Ile1346Asn, NP_001358176.1:p.Ile1346Asn

Select item 14828142848.

rs1482814284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:165308752 (GRCh38)
2:166165262 (GRCh37)
Canonical SPDI:: NC_000002.12:165308751:G:A
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165308752G>A, NC_000002.11:g.166165262G>A, NG_008143.1:g.74351G>A, NM_021007.3:c.563G>A, NM_021007.2:c.563G>A, NM_001040143.2:c.563G>A, NM_001040143.1:c.563G>A, NM_001040142.2:c.563G>A, NM_001040142.1:c.563G>A, NM_001371246.1:c.563G>A, NM_001371247.1:c.563G>A, NP_066287.2:p.Arg188Gln, NP_001035233.1:p.Arg188Gln, NP_001035232.1:p.Arg188Gln, NP_001358175.1:p.Arg188Gln, NP_001358176.1:p.Arg188Gln

Select item 14799800289.

rs1479980028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:165380654 (GRCh38)
2:166237164 (GRCh37)
Canonical SPDI:: NC_000002.12:165380653:T:A
Gene:: SCN2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165380654T>A, NC_000002.11:g.166237164T>A, NG_008143.1:g.146253T>A, NM_021007.3:c.4371T>A, NM_021007.2:c.4371T>A, NM_001040143.2:c.4371T>A, NM_001040143.1:c.4371T>A, NM_001040142.2:c.4371T>A, NM_001040142.1:c.4371T>A, NM_001371246.1:c.4371T>A, NM_001371247.1:c.4371T>A

Select item 147933411410.

rs1479334114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:165354401 (GRCh38)
2:166210911 (GRCh37)
Canonical SPDI:: NC_000002.12:165354400:A:G
Gene:: SCN2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0002/1 (1000Genomes)
HGVS:: NC_000002.12:g.165354401A>G, NC_000002.11:g.166210911A>G, NG_008143.1:g.120000A>G, NM_021007.3:c.3129A>G, NM_021007.2:c.3129A>G, NM_001040143.2:c.3129A>G, NM_001040143.1:c.3129A>G, NM_001040142.2:c.3129A>G, NM_001040142.1:c.3129A>G, NM_001371246.1:c.3129A>G, NM_001371247.1:c.3129A>G

Select item 147879822511.

rs1478798225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:165315715 (GRCh38)
2:166172225 (GRCh37)
Canonical SPDI:: NC_000002.12:165315714:G:C
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165315715G>C, NC_000002.11:g.166172225G>C, NG_008143.1:g.81314G>C, NM_021007.3:c.1628G>C, NM_021007.2:c.1628G>C, NM_001040143.2:c.1628G>C, NM_001040143.1:c.1628G>C, NM_001040142.2:c.1628G>C, NM_001040142.1:c.1628G>C, NM_001371246.1:c.1628G>C, NM_001371247.1:c.1628G>C, NP_066287.2:p.Gly543Ala, NP_001035233.1:p.Gly543Ala, NP_001035232.1:p.Gly543Ala, NP_001358175.1:p.Gly543Ala, NP_001358176.1:p.Gly543Ala

Select item 147846852512.

rs1478468525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:165323436 (GRCh38)
2:166179946 (GRCh37)
Canonical SPDI:: NC_000002.12:165323435:A:G
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165323436A>G, NC_000002.11:g.166179946A>G, NG_008143.1:g.89035A>G, NM_021007.3:c.1952A>G, NM_021007.2:c.1952A>G, NM_001040143.2:c.1952A>G, NM_001040143.1:c.1952A>G, NM_001040142.2:c.1952A>G, NM_001040142.1:c.1952A>G, NM_001371246.1:c.1952A>G, NM_001371247.1:c.1952A>G, NP_066287.2:p.Asn651Ser, NP_001035233.1:p.Asn651Ser, NP_001035232.1:p.Asn651Ser, NP_001358175.1:p.Asn651Ser, NP_001358176.1:p.Asn651Ser

Select item 147841451013.

rs1478414510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:165315722 (GRCh38)
2:166172232 (GRCh37)
Canonical SPDI:: NC_000002.12:165315721:G:T
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.165315722G>T, NC_000002.11:g.166172232G>T, NG_008143.1:g.81321G>T, NM_021007.3:c.1635G>T, NM_021007.2:c.1635G>T, NM_001040143.2:c.1635G>T, NM_001040143.1:c.1635G>T, NM_001040142.2:c.1635G>T, NM_001040142.1:c.1635G>T, NM_001371246.1:c.1635G>T, NM_001371247.1:c.1635G>T, NP_066287.2:p.Arg545Ser, NP_001035233.1:p.Arg545Ser, NP_001035232.1:p.Arg545Ser, NP_001358175.1:p.Arg545Ser, NP_001358176.1:p.Arg545Ser

Select item 147770752014.

rs1477707520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:165326945 (GRCh38)
2:166183455 (GRCh37)
Canonical SPDI:: NC_000002.12:165326944:G:A
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.165326945G>A, NC_000002.11:g.166183455G>A, NG_008143.1:g.92544G>A, NM_021007.3:c.2110G>A, NM_021007.2:c.2110G>A, NM_001040143.2:c.2110G>A, NM_001040143.1:c.2110G>A, NM_001040142.2:c.2110G>A, NM_001040142.1:c.2110G>A, NM_001371246.1:c.2110G>A, NM_001371247.1:c.2110G>A, NP_066287.2:p.Ala704Thr, NP_001035233.1:p.Ala704Thr, NP_001035232.1:p.Ala704Thr, NP_001358175.1:p.Ala704Thr, NP_001358176.1:p.Ala704Thr

Select item 147658355415.

rs1476583554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:165389477 (GRCh38)
2:166245987 (GRCh37)
Canonical SPDI:: NC_000002.12:165389476:G:T
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165389477G>T, NC_000002.11:g.166245987G>T, NG_008143.1:g.155076G>T, NM_021007.3:c.5671G>T, NM_021007.2:c.5671G>T, NM_001040143.2:c.5671G>T, NM_001040143.1:c.5671G>T, NM_001040142.2:c.5671G>T, NM_001040142.1:c.5671G>T, NM_001371246.1:c.5671G>T, NM_001371247.1:c.5671G>T, NP_066287.2:p.Val1891Phe, NP_001035233.1:p.Val1891Phe, NP_001035232.1:p.Val1891Phe, NP_001358175.1:p.Val1891Phe, NP_001358176.1:p.Val1891Phe

Select item 147654093716.

rs1476540937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:165354408 (GRCh38)
2:166210918 (GRCh37)
Canonical SPDI:: NC_000002.12:165354407:A:G
Gene:: SCN2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.165354408A>G, NC_000002.11:g.166210918A>G, NG_008143.1:g.120007A>G, NM_021007.3:c.3136A>G, NM_021007.2:c.3136A>G, NM_001040143.2:c.3136A>G, NM_001040143.1:c.3136A>G, NM_001040142.2:c.3136A>G, NM_001040142.1:c.3136A>G, NM_001371246.1:c.3136A>G, NM_001371247.1:c.3136A>G, NP_066287.2:p.Asn1046Asp, NP_001035233.1:p.Asn1046Asp, NP_001035232.1:p.Asn1046Asp, NP_001358175.1:p.Asn1046Asp, NP_001358176.1:p.Asn1046Asp

Select item 147578690117.

rs1475786901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:165381197 (GRCh38)
2:166237707 (GRCh37)
Canonical SPDI:: NC_000002.12:165381196:T:C
Gene:: SCN2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.165381197T>C, NC_000002.11:g.166237707T>C, NG_008143.1:g.146796T>C, NM_021007.3:c.4551T>C, NM_021007.2:c.4551T>C, NM_001040143.2:c.4551T>C, NM_001040143.1:c.4551T>C, NM_001040142.2:c.4551T>C, NM_001040142.1:c.4551T>C, NM_001371246.1:c.4551T>C, NM_001371247.1:c.4551T>C

Select item 147524223518.

rs1475242235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:165295984 (GRCh38)
2:166152494 (GRCh37)
Canonical SPDI:: NC_000002.12:165295983:G:A
Gene:: SCN2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165295984G>A, NC_000002.11:g.166152494G>A, NG_008143.1:g.61583G>A, NM_021007.3:c.161G>A, NM_021007.2:c.161G>A, NM_001040143.2:c.161G>A, NM_001040143.1:c.161G>A, NM_001040142.2:c.161G>A, NM_001040142.1:c.161G>A, NM_001371246.1:c.161G>A, NM_001371247.1:c.161G>A, NP_066287.2:p.Ser54Asn, NP_001035233.1:p.Ser54Asn, NP_001035232.1:p.Ser54Asn, NP_001358175.1:p.Ser54Asn, NP_001358176.1:p.Ser54Asn

Select item 147436448919.

rs1474364489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:165389284 (GRCh38)
2:166245794 (GRCh37)
Canonical SPDI:: NC_000002.12:165389283:T:C
Gene:: SCN2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.165389284T>C, NC_000002.11:g.166245794T>C, NG_008143.1:g.154883T>C, NM_021007.3:c.5478T>C, NM_021007.2:c.5478T>C, NM_001040143.2:c.5478T>C, NM_001040143.1:c.5478T>C, NM_001040142.2:c.5478T>C, NM_001040142.1:c.5478T>C, NM_001371246.1:c.5478T>C, NM_001371247.1:c.5478T>C

Select item 147398134920.

rs1473981349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:165386866 (GRCh38)
2:166243376 (GRCh37)
Canonical SPDI:: NC_000002.12:165386865:G:C,NC_000002.12:165386865:G:T
Gene:: SCN2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.165386866G>C, NC_000002.12:g.165386866G>T, NC_000002.11:g.166243376G>C, NC_000002.11:g.166243376G>T, NG_008143.1:g.152465G>C, NG_008143.1:g.152465G>T, NM_021007.3:c.4672G>C, NM_021007.3:c.4672G>T, NM_021007.2:c.4672G>C, NM_021007.2:c.4672G>T, NM_001040143.2:c.4672G>C, NM_001040143.2:c.4672G>T, NM_001040143.1:c.4672G>C, NM_001040143.1:c.4672G>T, NM_001040142.2:c.4672G>C, NM_001040142.2:c.4672G>T, NM_001040142.1:c.4672G>C, NM_001040142.1:c.4672G>T, NM_001371246.1:c.4672G>C, NM_001371246.1:c.4672G>T, NM_001371247.1:c.4672G>C, NM_001371247.1:c.4672G>T, NP_066287.2:p.Glu1558Gln, NP_066287.2:p.Glu1558Ter, NP_001035233.1:p.Glu1558Gln, NP_001035233.1:p.Glu1558Ter, NP_001035232.1:p.Glu1558Gln, NP_001035232.1:p.Glu1558Ter, NP_001358175.1:p.Glu1558Gln, NP_001358175.1:p.Glu1558Ter, NP_001358176.1:p.Glu1558Gln, NP_001358176.1:p.Glu1558Ter

dbSNP

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