SNP Links for Protein (Select 5901962) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 359

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Select item 14893532351.

rs1489353235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49821408 (GRCh38)
17:47898770 (GRCh37)
Canonical SPDI:: NC_000017.11:49821407:G:A
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49821408G>A, NC_000017.10:g.47898770G>A, NG_051976.1:g.37790G>A, NM_007067.5:c.1227G>A, NM_007067.4:c.1227G>A, NM_001199155.2:c.1137G>A, NM_001199155.1:c.1137G>A, NM_001346706.2:c.987G>A, NM_001346706.1:c.987G>A, NM_001199157.2:c.897G>A, NM_001199157.1:c.897G>A, NM_001199156.2:c.810G>A, NM_001199156.1:c.810G>A, NM_001199158.2:c.720G>A, NM_001199158.1:c.720G>A

Select item 14883115202.

rs1488311520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:49798459 (GRCh38)
17:47875821 (GRCh37)
Canonical SPDI:: NC_000017.11:49798458:G:T
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49798459G>T, NC_000017.10:g.47875821G>T, NG_051976.1:g.14841G>T, NM_007067.5:c.481G>T, NM_007067.4:c.481G>T, NM_001199155.2:c.481G>T, NM_001199155.1:c.481G>T, NP_008998.1:p.Asp161Tyr, NP_001186084.1:p.Asp161Tyr

Select item 14878259103.

rs1487825910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:49798411 (GRCh38)
17:47875773 (GRCh37)
Canonical SPDI:: NC_000017.11:49798410:C:G
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49798411C>G, NC_000017.10:g.47875773C>G, NG_051976.1:g.14793C>G, NM_007067.5:c.433C>G, NM_007067.4:c.433C>G, NM_001199155.2:c.433C>G, NM_001199155.1:c.433C>G, NP_008998.1:p.Pro145Ala, NP_001186084.1:p.Pro145Ala

Select item 14867555724.

rs1486755572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49791898 (GRCh38)
17:47869260 (GRCh37)
Canonical SPDI:: NC_000017.11:49791897:A:G
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49791898A>G, NC_000017.10:g.47869260A>G, NG_051976.1:g.8280A>G, NM_007067.5:c.28A>G, NM_007067.4:c.28A>G, NM_001199155.2:c.28A>G, NM_001199155.1:c.28A>G, NM_001346706.2:c.28A>G, NM_001346706.1:c.28A>G, NM_001199157.2:c.28A>G, NM_001199157.1:c.28A>G, NM_001199156.2:c.28A>G, NM_001199156.1:c.28A>G, NM_001199158.2:c.28A>G, NM_001199158.1:c.28A>G, NP_008998.1:p.Ser10Gly, NP_001186084.1:p.Ser10Gly, NP_001333635.1:p.Ser10Gly, NP_001186086.1:p.Ser10Gly, NP_001186085.1:p.Ser10Gly, NP_001186087.1:p.Ser10Gly

Select item 14863787895.

rs1486378789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49805435 (GRCh38)
17:47882797 (GRCh37)
Canonical SPDI:: NC_000017.11:49805434:A:G
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49805435A>G, NC_000017.10:g.47882797A>G, NG_051976.1:g.21817A>G, NM_007067.5:c.653A>G, NM_007067.4:c.653A>G, NM_001199155.2:c.653A>G, NM_001199155.1:c.653A>G, NM_001346706.2:c.413A>G, NM_001346706.1:c.413A>G, NM_001199157.2:c.413A>G, NM_001199157.1:c.413A>G, NM_001199156.2:c.236A>G, NM_001199156.1:c.236A>G, NM_001199158.2:c.236A>G, NM_001199158.1:c.236A>G, NP_008998.1:p.Asp218Gly, NP_001186084.1:p.Asp218Gly, NP_001333635.1:p.Asp138Gly, NP_001186086.1:p.Asp138Gly, NP_001186085.1:p.Asp79Gly, NP_001186087.1:p.Asp79Gly

Select item 14858785146.

rs1485878514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:49811511 (GRCh38)
17:47888873 (GRCh37)
Canonical SPDI:: NC_000017.11:49811510:A:G,NC_000017.11:49811510:A:T
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49811511A>G, NC_000017.11:g.49811511A>T, NC_000017.10:g.47888873A>G, NC_000017.10:g.47888873A>T, NG_051976.1:g.27893A>G, NG_051976.1:g.27893A>T, NM_007067.5:c.789A>G, NM_007067.5:c.789A>T, NM_007067.4:c.789A>G, NM_007067.4:c.789A>T, NM_001199155.2:c.699A>G, NM_001199155.2:c.699A>T, NM_001199155.1:c.699A>G, NM_001199155.1:c.699A>T, NM_001346706.2:c.549A>G, NM_001346706.2:c.549A>T, NM_001346706.1:c.549A>G, NM_001346706.1:c.549A>T, NM_001199157.2:c.459A>G, NM_001199157.2:c.459A>T, NM_001199157.1:c.459A>G, NM_001199157.1:c.459A>T, NM_001199156.2:c.372A>G, NM_001199156.2:c.372A>T, NM_001199156.1:c.372A>G, NM_001199156.1:c.372A>T, NM_001199158.2:c.282A>G, NM_001199158.2:c.282A>T, NM_001199158.1:c.282A>G, NM_001199158.1:c.282A>T, NP_008998.1:p.Lys263Asn, NP_001186084.1:p.Lys233Asn, NP_001333635.1:p.Lys183Asn, NP_001186086.1:p.Lys153Asn, NP_001186085.1:p.Lys124Asn, NP_001186087.1:p.Lys94Asn

Select item 14857087657.

rs1485708765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49827457 (GRCh38)
17:47904819 (GRCh37)
Canonical SPDI:: NC_000017.11:49827456:C:T
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49827457C>T, NC_000017.10:g.47904819C>T, NG_051976.1:g.43839C>T, NM_007067.5:c.1791C>T, NM_007067.4:c.1791C>T, NM_001199155.2:c.1701C>T, NM_001199155.1:c.1701C>T, NM_001346706.2:c.1551C>T, NM_001346706.1:c.1551C>T, NM_001199157.2:c.1461C>T, NM_001199157.1:c.1461C>T, NM_001199156.2:c.1374C>T, NM_001199156.1:c.1374C>T, NM_001199158.2:c.1284C>T, NM_001199158.1:c.1284C>T

Select item 14854598058.

rs1485459805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:49791902 (GRCh38)
17:47869264 (GRCh37)
Canonical SPDI:: NC_000017.11:49791901:G:T
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.49791902G>T, NC_000017.10:g.47869264G>T, NG_051976.1:g.8284G>T, NM_007067.5:c.32G>T, NM_007067.4:c.32G>T, NM_001199155.2:c.32G>T, NM_001199155.1:c.32G>T, NM_001346706.2:c.32G>T, NM_001346706.1:c.32G>T, NM_001199157.2:c.32G>T, NM_001199157.1:c.32G>T, NM_001199156.2:c.32G>T, NM_001199156.1:c.32G>T, NM_001199158.2:c.32G>T, NM_001199158.1:c.32G>T, NP_008998.1:p.Ser11Ile, NP_001186084.1:p.Ser11Ile, NP_001333635.1:p.Ser11Ile, NP_001186086.1:p.Ser11Ile, NP_001186085.1:p.Ser11Ile, NP_001186087.1:p.Ser11Ile

Select item 14845818319.

rs1484581831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49796920 (GRCh38)
17:47874282 (GRCh37)
Canonical SPDI:: NC_000017.11:49796919:G:C
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49796920G>C, NC_000017.10:g.47874282G>C, NG_051976.1:g.13302G>C, NM_007067.5:c.334G>C, NM_007067.4:c.334G>C, NM_001199155.2:c.334G>C, NM_001199155.1:c.334G>C, NM_001346706.2:c.334G>C, NM_001346706.1:c.334G>C, NM_001199157.2:c.334G>C, NM_001199157.1:c.334G>C, NP_008998.1:p.Asp112His, NP_001186084.1:p.Asp112His, NP_001333635.1:p.Asp112His, NP_001186086.1:p.Asp112His

Select item 148228450810.

rs1482284508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49798488 (GRCh38)
17:47875850 (GRCh37)
Canonical SPDI:: NC_000017.11:49798487:C:T
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.49798488C>T, NC_000017.10:g.47875850C>T, NG_051976.1:g.14870C>T, NM_007067.5:c.510C>T, NM_007067.4:c.510C>T, NM_001199155.2:c.510C>T, NM_001199155.1:c.510C>T

Select item 147786715211.

rs1477867152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49815820 (GRCh38)
17:47893182 (GRCh37)
Canonical SPDI:: NC_000017.11:49815819:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49815820T>C, NC_000017.10:g.47893182T>C, NG_051976.1:g.32202T>C, NM_007067.5:c.870T>C, NM_007067.4:c.870T>C, NM_001199155.2:c.780T>C, NM_001199155.1:c.780T>C, NM_001346706.2:c.630T>C, NM_001346706.1:c.630T>C, NM_001199157.2:c.540T>C, NM_001199157.1:c.540T>C, NM_001199156.2:c.453T>C, NM_001199156.1:c.453T>C, NM_001199158.2:c.363T>C, NM_001199158.1:c.363T>C

Select item 147549540112.

rs1475495401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49798397 (GRCh38)
17:47875759 (GRCh37)
Canonical SPDI:: NC_000017.11:49798396:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,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.49798397T>C, NC_000017.10:g.47875759T>C, NG_051976.1:g.14779T>C, NM_007067.5:c.419T>C, NM_007067.4:c.419T>C, NM_001199155.2:c.419T>C, NM_001199155.1:c.419T>C, NP_008998.1:p.Ile140Thr, NP_001186084.1:p.Ile140Thr

Select item 147215083013.

rs1472150830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:49796764 (GRCh38)
17:47874126 (GRCh37)
Canonical SPDI:: NC_000017.11:49796763:C:A,NC_000017.11:49796763:C:T
Gene:: KAT7 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49796764C>A, NC_000017.11:g.49796764C>T, NC_000017.10:g.47874126C>A, NC_000017.10:g.47874126C>T, NG_051976.1:g.13146C>A, NG_051976.1:g.13146C>T, NM_007067.5:c.178C>A, NM_007067.5:c.178C>T, NM_007067.4:c.178C>A, NM_007067.4:c.178C>T, NM_001199155.2:c.178C>A, NM_001199155.2:c.178C>T, NM_001199155.1:c.178C>A, NM_001199155.1:c.178C>T, NM_001346706.2:c.178C>A, NM_001346706.2:c.178C>T, NM_001346706.1:c.178C>A, NM_001346706.1:c.178C>T, NM_001199157.2:c.178C>A, NM_001199157.2:c.178C>T, NM_001199157.1:c.178C>A, NM_001199157.1:c.178C>T, NP_008998.1:p.Arg60Ter, NP_001186084.1:p.Arg60Ter, NP_001333635.1:p.Arg60Ter, NP_001186086.1:p.Arg60Ter

Select item 147175145014.

rs1471751450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49796773 (GRCh38)
17:47874135 (GRCh37)
Canonical SPDI:: NC_000017.11:49796772:C:T
Gene:: KAT7 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.49796773C>T, NC_000017.10:g.47874135C>T, NG_051976.1:g.13155C>T, NM_007067.5:c.187C>T, NM_007067.4:c.187C>T, NM_001199155.2:c.187C>T, NM_001199155.1:c.187C>T, NM_001346706.2:c.187C>T, NM_001346706.1:c.187C>T, NM_001199157.2:c.187C>T, NM_001199157.1:c.187C>T, NP_008998.1:p.Gln63Ter, NP_001186084.1:p.Gln63Ter, NP_001333635.1:p.Gln63Ter, NP_001186086.1:p.Gln63Ter

Select item 146480969015.

rs1464809690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49791990 (GRCh38)
17:47869352 (GRCh37)
Canonical SPDI:: NC_000017.11:49791989:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.49791990T>C, NC_000017.10:g.47869352T>C, NG_051976.1:g.8372T>C, NM_007067.5:c.120T>C, NM_007067.4:c.120T>C, NM_001199155.2:c.120T>C, NM_001199155.1:c.120T>C, NM_001346706.2:c.120T>C, NM_001346706.1:c.120T>C, NM_001199157.2:c.120T>C, NM_001199157.1:c.120T>C, NM_001199156.2:c.120T>C, NM_001199156.1:c.120T>C, NM_001199158.2:c.120T>C, NM_001199158.1:c.120T>C

Select item 146354222516.

rs1463542225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49788846 (GRCh38)
17:47866208 (GRCh37)
Canonical SPDI:: NC_000017.11:49788845:G:A
Gene:: KAT7 (Varview), FAM117A (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49788846G>A, NC_000017.10:g.47866208G>A, NG_051976.1:g.5228G>A, NM_007067.5:c.12G>A, NM_007067.4:c.12G>A, NM_001199155.2:c.12G>A, NM_001199155.1:c.12G>A, NM_001346706.2:c.12G>A, NM_001346706.1:c.12G>A, NM_001199157.2:c.12G>A, NM_001199157.1:c.12G>A, NM_001199156.2:c.12G>A, NM_001199156.1:c.12G>A, NM_001199158.2:c.12G>A, NM_001199158.1:c.12G>A

Select item 146198829817.

rs1461988298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49798481 (GRCh38)
17:47875843 (GRCh37)
Canonical SPDI:: NC_000017.11:49798480:A:G
Gene:: KAT7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49798481A>G, NC_000017.10:g.47875843A>G, NG_051976.1:g.14863A>G, NM_007067.5:c.503A>G, NM_007067.4:c.503A>G, NM_001199155.2:c.503A>G, NM_001199155.1:c.503A>G, NP_008998.1:p.His168Arg, NP_001186084.1:p.His168Arg

Select item 146005124218.

rs1460051242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49823207 (GRCh38)
17:47900569 (GRCh37)
Canonical SPDI:: NC_000017.11:49823206:G:C
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.49823207G>C, NC_000017.10:g.47900569G>C, NG_051976.1:g.39589G>C, NM_007067.5:c.1392G>C, NM_007067.4:c.1392G>C, NM_001199155.2:c.1302G>C, NM_001199155.1:c.1302G>C, NM_001346706.2:c.1152G>C, NM_001346706.1:c.1152G>C, NM_001199157.2:c.1062G>C, NM_001199157.1:c.1062G>C, NM_001199156.2:c.975G>C, NM_001199156.1:c.975G>C, NM_001199158.2:c.885G>C, NM_001199158.1:c.885G>C, NP_008998.1:p.Lys464Asn, NP_001186084.1:p.Lys434Asn, NP_001333635.1:p.Lys384Asn, NP_001186086.1:p.Lys354Asn, NP_001186085.1:p.Lys325Asn, NP_001186087.1:p.Lys295Asn

Select item 145911130719.

rs1459111307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49817879 (GRCh38)
17:47895241 (GRCh37)
Canonical SPDI:: NC_000017.11:49817878:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.49817879T>C, NC_000017.10:g.47895241T>C, NG_051976.1:g.34261T>C, NM_007067.5:c.1023T>C, NM_007067.4:c.1023T>C, NM_001199155.2:c.933T>C, NM_001199155.1:c.933T>C, NM_001346706.2:c.783T>C, NM_001346706.1:c.783T>C, NM_001199157.2:c.693T>C, NM_001199157.1:c.693T>C, NM_001199156.2:c.606T>C, NM_001199156.1:c.606T>C, NM_001199158.2:c.516T>C, NM_001199158.1:c.516T>C

Select item 145838598420.

rs1458385984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49815831 (GRCh38)
17:47893193 (GRCh37)
Canonical SPDI:: NC_000017.11:49815830:G:A
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49815831G>A, NC_000017.10:g.47893193G>A, NG_051976.1:g.32213G>A, NM_007067.5:c.881G>A, NM_007067.4:c.881G>A, NM_001199155.2:c.791G>A, NM_001199155.1:c.791G>A, NM_001346706.2:c.641G>A, NM_001346706.1:c.641G>A, NM_001199157.2:c.551G>A, NM_001199157.1:c.551G>A, NM_001199156.2:c.464G>A, NM_001199156.1:c.464G>A, NM_001199158.2:c.374G>A, NM_001199158.1:c.374G>A, NP_008998.1:p.Arg294Gln, NP_001186084.1:p.Arg264Gln, NP_001333635.1:p.Arg214Gln, NP_001186086.1:p.Arg184Gln, NP_001186085.1:p.Arg155Gln, NP_001186087.1:p.Arg125Gln

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