SNP Links for Protein (Select 530373398) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:53882096 (GRCh38)
3:53916123 (GRCh37)
Canonical SPDI:: NC_000003.12:53882095:G:A
Gene:: ACTR8 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.53882096G>A, NC_000003.11:g.53916123G>A, XM_005265587.6:c.6C>T, XM_005265587.5:c.6C>T, XM_005265587.4:c.6C>T, XM_005265587.3:c.6C>T, XM_005265587.2:c.6C>T, XM_005265587.1:c.6C>T, NM_022899.5:c.6C>T, NM_022899.4:c.6C>T, XM_047449239.1:c.6C>T

Select item 147833344912.

rs1478333449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:53870072 (GRCh38)
3:53904099 (GRCh37)
Canonical SPDI:: NC_000003.12:53870071:A:G
Gene:: ACTR8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.53870072A>G, NC_000003.11:g.53904099A>G, XM_005265587.6:c.1641T>C, XM_005265587.5:c.1641T>C, XM_005265587.4:c.1641T>C, XM_005265587.3:c.1641T>C, XM_005265587.2:c.1641T>C, XM_005265587.1:c.1641T>C, NM_022899.5:c.1641T>C, NM_022899.4:c.1641T>C, XM_011534249.4:c.1308T>C, NM_001410774.1:c.1308T>C, XM_047449238.1:c.915T>C

Select item 147748779113.

rs1477487791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:53872479 (GRCh38)
3:53906506 (GRCh37)
Canonical SPDI:: NC_000003.12:53872478:G:A
Gene:: ACTR8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000003.12:g.53872479G>A, NC_000003.11:g.53906506G>A, XM_005265587.6:c.1207C>T, XM_005265587.5:c.1207C>T, XM_005265587.4:c.1207C>T, XM_005265587.3:c.1207C>T, XM_005265587.2:c.1207C>T, XM_005265587.1:c.1207C>T, NM_022899.5:c.1207C>T, NM_022899.4:c.1207C>T, XM_011534249.4:c.874C>T, NM_001410774.1:c.874C>T, XM_047449238.1:c.481C>T, XP_005265644.1:p.Gln403Ter, NP_075050.3:p.Gln403Ter, XP_011532551.1:p.Gln292Ter, XP_047305194.1:p.Gln161Ter

Select item 147690634114.

rs1476906341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:53876637 (GRCh38)
3:53910664 (GRCh37)
Canonical SPDI:: NC_000003.12:53876636:A:G
Gene:: ACTR8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.53876637A>G, NC_000003.11:g.53910664A>G, XM_005265587.6:c.761T>C, XM_005265587.5:c.761T>C, XM_005265587.4:c.761T>C, XM_005265587.3:c.761T>C, XM_005265587.2:c.761T>C, XM_005265587.1:c.761T>C, NM_022899.5:c.761T>C, NM_022899.4:c.761T>C, XM_011534249.4:c.428T>C, NM_001410774.1:c.428T>C, XM_047449239.1:c.761T>C, XP_005265644.1:p.Met254Thr, NP_075050.3:p.Met254Thr, XP_011532551.1:p.Met143Thr, XP_047305195.1:p.Met254Thr

Select item 147631541315.

rs1476315413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:53870098 (GRCh38)
3:53904125 (GRCh37)
Canonical SPDI:: NC_000003.12:53870097:C:A
Gene:: ACTR8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.53870098C>A, NC_000003.11:g.53904125C>A, XM_005265587.6:c.1615G>T, XM_005265587.5:c.1615G>T, XM_005265587.4:c.1615G>T, XM_005265587.3:c.1615G>T, XM_005265587.2:c.1615G>T, XM_005265587.1:c.1615G>T, NM_022899.5:c.1615G>T, NM_022899.4:c.1615G>T, XM_011534249.4:c.1282G>T, NM_001410774.1:c.1282G>T, XM_047449238.1:c.889G>T, XP_005265644.1:p.Gly539Ter, NP_075050.3:p.Gly539Ter, XP_011532551.1:p.Gly428Ter, XP_047305194.1:p.Gly297Ter

Select item 147509926616.

rs1475099266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:53880030 (GRCh38)
3:53914057 (GRCh37)
Canonical SPDI:: NC_000003.12:53880029:G:A
Gene:: ACTR8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.53880030G>A, NC_000003.11:g.53914057G>A, XM_005265587.6:c.203C>T, XM_005265587.5:c.203C>T, XM_005265587.4:c.203C>T, XM_005265587.3:c.203C>T, XM_005265587.2:c.203C>T, XM_005265587.1:c.203C>T, NM_022899.5:c.203C>T, NM_022899.4:c.203C>T, XM_011534249.4:c.-131C>T, NM_001410774.1:c.-131C>T, XM_047449239.1:c.203C>T, XP_005265644.1:p.Pro68Leu, NP_075050.3:p.Pro68Leu, XP_047305195.1:p.Pro68Leu

Select item 147345281517.

rs1473452815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:53879960 (GRCh38)
3:53913987 (GRCh37)
Canonical SPDI:: NC_000003.12:53879959:C:A
Gene:: ACTR8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.53879960C>A, NC_000003.11:g.53913987C>A, XM_005265587.6:c.273G>T, XM_005265587.5:c.273G>T, XM_005265587.4:c.273G>T, XM_005265587.3:c.273G>T, XM_005265587.2:c.273G>T, XM_005265587.1:c.273G>T, NM_022899.5:c.273G>T, NM_022899.4:c.273G>T, XM_011534249.4:c.-61G>T, NM_001410774.1:c.-61G>T, XM_047449239.1:c.273G>T, XP_005265644.1:p.Trp91Cys, NP_075050.3:p.Trp91Cys, XP_047305195.1:p.Trp91Cys

Select item 147245671218.

rs1472456712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:53870115 (GRCh38)
3:53904142 (GRCh37)
Canonical SPDI:: NC_000003.12:53870114:C:T
Gene:: ACTR8 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.53870115C>T, NC_000003.11:g.53904142C>T, XM_005265587.6:c.1598G>A, XM_005265587.5:c.1598G>A, XM_005265587.4:c.1598G>A, XM_005265587.3:c.1598G>A, XM_005265587.2:c.1598G>A, XM_005265587.1:c.1598G>A, NM_022899.5:c.1598G>A, NM_022899.4:c.1598G>A, XM_011534249.4:c.1265G>A, NM_001410774.1:c.1265G>A, XM_047449238.1:c.872G>A, XP_005265644.1:p.Ser533Asn, NP_075050.3:p.Ser533Asn, XP_011532551.1:p.Ser422Asn, XP_047305194.1:p.Ser291Asn

Select item 147209384419.

rs1472093844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:53877302 (GRCh38)
3:53911329 (GRCh37)
Canonical SPDI:: NC_000003.12:53877301:C:G
Gene:: ACTR8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.53877302C>G, NC_000003.11:g.53911329C>G, XM_005265587.6:c.596G>C, XM_005265587.5:c.596G>C, XM_005265587.4:c.596G>C, XM_005265587.3:c.596G>C, XM_005265587.2:c.596G>C, XM_005265587.1:c.596G>C, NM_022899.5:c.596G>C, NM_022899.4:c.596G>C, XM_011534249.4:c.263G>C, NM_001410774.1:c.263G>C, XM_047449238.1:c.-37G>C, XM_047449239.1:c.596G>C, XP_005265644.1:p.Gly199Ala, NP_075050.3:p.Gly199Ala, XP_011532551.1:p.Gly88Ala, XP_047305195.1:p.Gly199Ala

Select item 147105328420.

rs1471053284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:53870025 (GRCh38)
3:53904052 (GRCh37)
Canonical SPDI:: NC_000003.12:53870024:A:G
Gene:: ACTR8 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.53870025A>G, NC_000003.11:g.53904052A>G, XM_005265587.6:c.1688T>C, XM_005265587.5:c.1688T>C, XM_005265587.4:c.1688T>C, XM_005265587.3:c.1688T>C, XM_005265587.2:c.1688T>C, XM_005265587.1:c.1688T>C, NM_022899.5:c.1688T>C, NM_022899.4:c.1688T>C, XM_011534249.4:c.1355T>C, NM_001410774.1:c.1355T>C, XM_047449238.1:c.962T>C, XP_005265644.1:p.Phe563Ser, NP_075050.3:p.Phe563Ser, XP_011532551.1:p.Phe452Ser, XP_047305194.1:p.Phe321Ser

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