SNP Links for Protein (Select 767940680) - SNP

Select item 14835566211.

rs1483556621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28153473 (GRCh38)
6:28121251 (GRCh37)
Canonical SPDI:: NC_000006.12:28153472:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.28153473G>A, NC_000006.11:g.28121251G>A, NM_006298.4:c.1193G>A, NM_006298.3:c.1193G>A, XM_011514870.3:c.1193G>A, XM_011514870.2:c.1193G>A, XM_011514870.1:c.1193G>A, XM_017011266.3:c.1193G>A, XM_017011266.2:c.1193G>A, XM_017011266.1:c.1193G>A, XM_011514874.3:c.632G>A, XM_011514874.2:c.632G>A, XM_011514874.1:c.632G>A, NM_001278119.2:c.1193G>A, NM_001278119.1:c.1193G>A, NM_001278122.2:c.632G>A, NM_001278122.1:c.632G>A, NM_001278121.2:c.632G>A, NM_001278121.1:c.632G>A, XM_047419315.1:c.1193G>A, NP_006289.2:p.Arg398Lys, XP_011513172.1:p.Arg398Lys, XP_016866755.1:p.Arg398Lys, XP_011513176.1:p.Arg211Lys, NP_001265048.1:p.Arg398Lys, NP_001265051.1:p.Arg211Lys, NP_001265050.1:p.Arg211Lys, XP_047275271.1:p.Arg398Lys

Select item 14832581892.

rs1483258189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28153090 (GRCh38)
6:28120868 (GRCh37)
Canonical SPDI:: NC_000006.12:28153089:T:C
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153090T>C, NC_000006.11:g.28120868T>C, NM_006298.4:c.810T>C, NM_006298.3:c.810T>C, XM_011514870.3:c.810T>C, XM_011514870.2:c.810T>C, XM_011514870.1:c.810T>C, XM_017011266.3:c.810T>C, XM_017011266.2:c.810T>C, XM_017011266.1:c.810T>C, XM_011514874.3:c.249T>C, XM_011514874.2:c.249T>C, XM_011514874.1:c.249T>C, NM_001278119.2:c.810T>C, NM_001278119.1:c.810T>C, NM_001278122.2:c.249T>C, NM_001278122.1:c.249T>C, NM_001278121.2:c.249T>C, NM_001278121.1:c.249T>C, XM_047419315.1:c.810T>C

Select item 14832004143.

rs1483200414 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 6:28153489 (GRCh38)
6:28121268 (GRCh37)
Canonical SPDI:: NC_000006.12:28153489:AA:AAAA
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.28153490_28153491dup, NC_000006.11:g.28121268_28121269dup, NM_006298.4:c.1210_1211dup, NM_006298.3:c.1210_1211dup, XM_011514870.3:c.1210_1211dup, XM_011514870.2:c.1210_1211dup, XM_011514870.1:c.1210_1211dup, XM_017011266.3:c.1210_1211dup, XM_017011266.2:c.1210_1211dup, XM_017011266.1:c.1210_1211dup, XM_011514874.3:c.649_650dup, XM_011514874.2:c.649_650dup, XM_011514874.1:c.649_650dup, NM_001278119.2:c.1210_1211dup, NM_001278119.1:c.1210_1211dup, NM_001278122.2:c.649_650dup, NM_001278122.1:c.649_650dup, NM_001278121.2:c.649_650dup, NM_001278121.1:c.649_650dup, XM_047419315.1:c.1210_1211dup, NP_006289.2:p.Pro405fs, XP_011513172.1:p.Pro405fs, XP_016866755.1:p.Pro405fs, XP_011513176.1:p.Pro218fs, NP_001265048.1:p.Pro405fs, NP_001265051.1:p.Pro218fs, NP_001265050.1:p.Pro218fs, XP_047275271.1:p.Pro405fs

Select item 14825981834.

rs1482598183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28153904 (GRCh38)
6:28121682 (GRCh37)
Canonical SPDI:: NC_000006.12:28153903:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153904G>A, NC_000006.11:g.28121682G>A, NM_006298.4:c.1624G>A, NM_006298.3:c.1624G>A, XM_011514870.3:c.1624G>A, XM_011514870.2:c.1624G>A, XM_011514870.1:c.1624G>A, XM_017011266.3:c.1624G>A, XM_017011266.2:c.1624G>A, XM_017011266.1:c.1624G>A, XM_011514874.3:c.1063G>A, XM_011514874.2:c.1063G>A, XM_011514874.1:c.1063G>A, NM_001278119.2:c.1624G>A, NM_001278119.1:c.1624G>A, NM_001278122.2:c.1063G>A, NM_001278122.1:c.1063G>A, NM_001278121.2:c.1063G>A, NM_001278121.1:c.1063G>A, XM_047419315.1:c.1624G>A, NP_006289.2:p.Gly542Arg, XP_011513172.1:p.Gly542Arg, XP_016866755.1:p.Gly542Arg, XP_011513176.1:p.Gly355Arg, NP_001265048.1:p.Gly542Arg, NP_001265051.1:p.Gly355Arg, NP_001265050.1:p.Gly355Arg, XP_047275271.1:p.Gly542Arg

Select item 14729237595.

rs1472923759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28153458 (GRCh38)
6:28121236 (GRCh37)
Canonical SPDI:: NC_000006.12:28153457:T:C
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153458T>C, NC_000006.11:g.28121236T>C, NM_006298.4:c.1178T>C, NM_006298.3:c.1178T>C, XM_011514870.3:c.1178T>C, XM_011514870.2:c.1178T>C, XM_011514870.1:c.1178T>C, XM_017011266.3:c.1178T>C, XM_017011266.2:c.1178T>C, XM_017011266.1:c.1178T>C, XM_011514874.3:c.617T>C, XM_011514874.2:c.617T>C, XM_011514874.1:c.617T>C, NM_001278119.2:c.1178T>C, NM_001278119.1:c.1178T>C, NM_001278122.2:c.617T>C, NM_001278122.1:c.617T>C, NM_001278121.2:c.617T>C, NM_001278121.1:c.617T>C, XM_047419315.1:c.1178T>C, NP_006289.2:p.Leu393Pro, XP_011513172.1:p.Leu393Pro, XP_016866755.1:p.Leu393Pro, XP_011513176.1:p.Leu206Pro, NP_001265048.1:p.Leu393Pro, NP_001265051.1:p.Leu206Pro, NP_001265050.1:p.Leu206Pro, XP_047275271.1:p.Leu393Pro

Select item 14658531926.

rs1465853192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28153595 (GRCh38)
6:28121373 (GRCh37)
Canonical SPDI:: NC_000006.12:28153594:T:C
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.28153595T>C, NC_000006.11:g.28121373T>C, NM_006298.4:c.1315T>C, NM_006298.3:c.1315T>C, XM_011514870.3:c.1315T>C, XM_011514870.2:c.1315T>C, XM_011514870.1:c.1315T>C, XM_017011266.3:c.1315T>C, XM_017011266.2:c.1315T>C, XM_017011266.1:c.1315T>C, XM_011514874.3:c.754T>C, XM_011514874.2:c.754T>C, XM_011514874.1:c.754T>C, NM_001278119.2:c.1315T>C, NM_001278119.1:c.1315T>C, NM_001278122.2:c.754T>C, NM_001278122.1:c.754T>C, NM_001278121.2:c.754T>C, NM_001278121.1:c.754T>C, XM_047419315.1:c.1315T>C, NP_006289.2:p.Cys439Arg, XP_011513172.1:p.Cys439Arg, XP_016866755.1:p.Cys439Arg, XP_011513176.1:p.Cys252Arg, NP_001265048.1:p.Cys439Arg, NP_001265051.1:p.Cys252Arg, NP_001265050.1:p.Cys252Arg, XP_047275271.1:p.Cys439Arg

Select item 14576685927.

rs1457668592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28152340 (GRCh38)
6:28120118 (GRCh37)
Canonical SPDI:: NC_000006.12:28152339:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28152340G>A, NC_000006.11:g.28120118G>A, NM_006298.4:c.731G>A, NM_006298.3:c.731G>A, XM_011514870.3:c.731G>A, XM_011514870.2:c.731G>A, XM_011514870.1:c.731G>A, XM_017011266.3:c.731G>A, XM_017011266.2:c.731G>A, XM_017011266.1:c.731G>A, XM_011514874.3:c.170G>A, XM_011514874.2:c.170G>A, XM_011514874.1:c.170G>A, NM_001278119.2:c.731G>A, NM_001278119.1:c.731G>A, NM_001278122.2:c.170G>A, NM_001278122.1:c.170G>A, NM_001278121.2:c.170G>A, NM_001278121.1:c.170G>A, XM_047419315.1:c.731G>A, NP_006289.2:p.Cys244Tyr, XP_011513172.1:p.Cys244Tyr, XP_016866755.1:p.Cys244Tyr, XP_011513176.1:p.Cys57Tyr, NP_001265048.1:p.Cys244Tyr, NP_001265051.1:p.Cys57Tyr, NP_001265050.1:p.Cys57Tyr, XP_047275271.1:p.Cys244Tyr

Select item 14565917648.

rs1456591764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:28153688 (GRCh38)
6:28121466 (GRCh37)
Canonical SPDI:: NC_000006.12:28153687:A:G,NC_000006.12:28153687:A:T
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.28153688A>G, NC_000006.12:g.28153688A>T, NC_000006.11:g.28121466A>G, NC_000006.11:g.28121466A>T, NM_006298.4:c.1408A>G, NM_006298.4:c.1408A>T, NM_006298.3:c.1408A>G, NM_006298.3:c.1408A>T, XM_011514870.3:c.1408A>G, XM_011514870.3:c.1408A>T, XM_011514870.2:c.1408A>G, XM_011514870.2:c.1408A>T, XM_011514870.1:c.1408A>G, XM_011514870.1:c.1408A>T, XM_017011266.3:c.1408A>G, XM_017011266.3:c.1408A>T, XM_017011266.2:c.1408A>G, XM_017011266.2:c.1408A>T, XM_017011266.1:c.1408A>G, XM_017011266.1:c.1408A>T, XM_011514874.3:c.847A>G, XM_011514874.3:c.847A>T, XM_011514874.2:c.847A>G, XM_011514874.2:c.847A>T, XM_011514874.1:c.847A>G, XM_011514874.1:c.847A>T, NM_001278119.2:c.1408A>G, NM_001278119.2:c.1408A>T, NM_001278119.1:c.1408A>G, NM_001278119.1:c.1408A>T, NM_001278122.2:c.847A>G, NM_001278122.2:c.847A>T, NM_001278122.1:c.847A>G, NM_001278122.1:c.847A>T, NM_001278121.2:c.847A>G, NM_001278121.2:c.847A>T, NM_001278121.1:c.847A>G, NM_001278121.1:c.847A>T, XM_047419315.1:c.1408A>G, XM_047419315.1:c.1408A>T, NP_006289.2:p.Thr470Ala, NP_006289.2:p.Thr470Ser, XP_011513172.1:p.Thr470Ala, XP_011513172.1:p.Thr470Ser, XP_016866755.1:p.Thr470Ala, XP_016866755.1:p.Thr470Ser, XP_011513176.1:p.Thr283Ala, XP_011513176.1:p.Thr283Ser, NP_001265048.1:p.Thr470Ala, NP_001265048.1:p.Thr470Ser, NP_001265051.1:p.Thr283Ala, NP_001265051.1:p.Thr283Ser, NP_001265050.1:p.Thr283Ala, NP_001265050.1:p.Thr283Ser, XP_047275271.1:p.Thr470Ala, XP_047275271.1:p.Thr470Ser

Select item 14563365979.

rs1456336597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:28153107 (GRCh38)
6:28120885 (GRCh37)
Canonical SPDI:: NC_000006.12:28153106:C:G,NC_000006.12:28153106:C:T
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.28153107C>G, NC_000006.12:g.28153107C>T, NC_000006.11:g.28120885C>G, NC_000006.11:g.28120885C>T, NM_006298.4:c.827C>G, NM_006298.4:c.827C>T, NM_006298.3:c.827C>G, NM_006298.3:c.827C>T, XM_011514870.3:c.827C>G, XM_011514870.3:c.827C>T, XM_011514870.2:c.827C>G, XM_011514870.2:c.827C>T, XM_011514870.1:c.827C>G, XM_011514870.1:c.827C>T, XM_017011266.3:c.827C>G, XM_017011266.3:c.827C>T, XM_017011266.2:c.827C>G, XM_017011266.2:c.827C>T, XM_017011266.1:c.827C>G, XM_017011266.1:c.827C>T, XM_011514874.3:c.266C>G, XM_011514874.3:c.266C>T, XM_011514874.2:c.266C>G, XM_011514874.2:c.266C>T, XM_011514874.1:c.266C>G, XM_011514874.1:c.266C>T, NM_001278119.2:c.827C>G, NM_001278119.2:c.827C>T, NM_001278119.1:c.827C>G, NM_001278119.1:c.827C>T, NM_001278122.2:c.266C>G, NM_001278122.2:c.266C>T, NM_001278122.1:c.266C>G, NM_001278122.1:c.266C>T, NM_001278121.2:c.266C>G, NM_001278121.2:c.266C>T, NM_001278121.1:c.266C>G, NM_001278121.1:c.266C>T, XM_047419315.1:c.827C>G, XM_047419315.1:c.827C>T, NP_006289.2:p.Ser276Cys, NP_006289.2:p.Ser276Phe, XP_011513172.1:p.Ser276Cys, XP_011513172.1:p.Ser276Phe, XP_016866755.1:p.Ser276Cys, XP_016866755.1:p.Ser276Phe, XP_011513176.1:p.Ser89Cys, XP_011513176.1:p.Ser89Phe, NP_001265048.1:p.Ser276Cys, NP_001265048.1:p.Ser276Phe, NP_001265051.1:p.Ser89Cys, NP_001265051.1:p.Ser89Phe, NP_001265050.1:p.Ser89Cys, NP_001265050.1:p.Ser89Phe, XP_047275271.1:p.Ser276Cys, XP_047275271.1:p.Ser276Phe

Select item 145607698910.

rs1456076989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28153292 (GRCh38)
6:28121070 (GRCh37)
Canonical SPDI:: NC_000006.12:28153291:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153292G>A, NC_000006.11:g.28121070G>A, NM_006298.4:c.1012G>A, NM_006298.3:c.1012G>A, XM_011514870.3:c.1012G>A, XM_011514870.2:c.1012G>A, XM_011514870.1:c.1012G>A, XM_017011266.3:c.1012G>A, XM_017011266.2:c.1012G>A, XM_017011266.1:c.1012G>A, XM_011514874.3:c.451G>A, XM_011514874.2:c.451G>A, XM_011514874.1:c.451G>A, NM_001278119.2:c.1012G>A, NM_001278119.1:c.1012G>A, NM_001278122.2:c.451G>A, NM_001278122.1:c.451G>A, NM_001278121.2:c.451G>A, NM_001278121.1:c.451G>A, XM_047419315.1:c.1012G>A, NP_006289.2:p.Val338Ile, XP_011513172.1:p.Val338Ile, XP_016866755.1:p.Val338Ile, XP_011513176.1:p.Val151Ile, NP_001265048.1:p.Val338Ile, NP_001265051.1:p.Val151Ile, NP_001265050.1:p.Val151Ile, XP_047275271.1:p.Val338Ile

Select item 145373190511.

rs1453731905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:28153346 (GRCh38)
6:28121124 (GRCh37)
Canonical SPDI:: NC_000006.12:28153345:G:T
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.28153346G>T, NC_000006.11:g.28121124G>T, NM_006298.4:c.1066G>T, NM_006298.3:c.1066G>T, XM_011514870.3:c.1066G>T, XM_011514870.2:c.1066G>T, XM_011514870.1:c.1066G>T, XM_017011266.3:c.1066G>T, XM_017011266.2:c.1066G>T, XM_017011266.1:c.1066G>T, XM_011514874.3:c.505G>T, XM_011514874.2:c.505G>T, XM_011514874.1:c.505G>T, NM_001278119.2:c.1066G>T, NM_001278119.1:c.1066G>T, NM_001278122.2:c.505G>T, NM_001278122.1:c.505G>T, NM_001278121.2:c.505G>T, NM_001278121.1:c.505G>T, XM_047419315.1:c.1066G>T, NP_006289.2:p.Gly356Cys, XP_011513172.1:p.Gly356Cys, XP_016866755.1:p.Gly356Cys, XP_011513176.1:p.Gly169Cys, NP_001265048.1:p.Gly356Cys, NP_001265051.1:p.Gly169Cys, NP_001265050.1:p.Gly169Cys, XP_047275271.1:p.Gly356Cys

Select item 145075051112.

rs1450750511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28153127 (GRCh38)
6:28120905 (GRCh37)
Canonical SPDI:: NC_000006.12:28153126:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153127G>A, NC_000006.11:g.28120905G>A, NM_006298.4:c.847G>A, NM_006298.3:c.847G>A, XM_011514870.3:c.847G>A, XM_011514870.2:c.847G>A, XM_011514870.1:c.847G>A, XM_017011266.3:c.847G>A, XM_017011266.2:c.847G>A, XM_017011266.1:c.847G>A, XM_011514874.3:c.286G>A, XM_011514874.2:c.286G>A, XM_011514874.1:c.286G>A, NM_001278119.2:c.847G>A, NM_001278119.1:c.847G>A, NM_001278122.2:c.286G>A, NM_001278122.1:c.286G>A, NM_001278121.2:c.286G>A, NM_001278121.1:c.286G>A, XM_047419315.1:c.847G>A, NP_006289.2:p.Gly283Arg, XP_011513172.1:p.Gly283Arg, XP_016866755.1:p.Gly283Arg, XP_011513176.1:p.Gly96Arg, NP_001265048.1:p.Gly283Arg, NP_001265051.1:p.Gly96Arg, NP_001265050.1:p.Gly96Arg, XP_047275271.1:p.Gly283Arg

Select item 145027921613.

rs1450279216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:28153172 (GRCh38)
6:28120950 (GRCh37)
Canonical SPDI:: NC_000006.12:28153171:G:C
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153172G>C, NC_000006.11:g.28120950G>C, NM_006298.4:c.892G>C, NM_006298.3:c.892G>C, XM_011514870.3:c.892G>C, XM_011514870.2:c.892G>C, XM_011514870.1:c.892G>C, XM_017011266.3:c.892G>C, XM_017011266.2:c.892G>C, XM_017011266.1:c.892G>C, XM_011514874.3:c.331G>C, XM_011514874.2:c.331G>C, XM_011514874.1:c.331G>C, NM_001278119.2:c.892G>C, NM_001278119.1:c.892G>C, NM_001278122.2:c.331G>C, NM_001278122.1:c.331G>C, NM_001278121.2:c.331G>C, NM_001278121.1:c.331G>C, XM_047419315.1:c.892G>C, NP_006289.2:p.Glu298Gln, XP_011513172.1:p.Glu298Gln, XP_016866755.1:p.Glu298Gln, XP_011513176.1:p.Glu111Gln, NP_001265048.1:p.Glu298Gln, NP_001265051.1:p.Glu111Gln, NP_001265050.1:p.Glu111Gln, XP_047275271.1:p.Glu298Gln

Select item 144892323014.

rs1448923230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28153164 (GRCh38)
6:28120942 (GRCh37)
Canonical SPDI:: NC_000006.12:28153163:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28153164G>A, NC_000006.11:g.28120942G>A, NM_006298.4:c.884G>A, NM_006298.3:c.884G>A, XM_011514870.3:c.884G>A, XM_011514870.2:c.884G>A, XM_011514870.1:c.884G>A, XM_017011266.3:c.884G>A, XM_017011266.2:c.884G>A, XM_017011266.1:c.884G>A, XM_011514874.3:c.323G>A, XM_011514874.2:c.323G>A, XM_011514874.1:c.323G>A, NM_001278119.2:c.884G>A, NM_001278119.1:c.884G>A, NM_001278122.2:c.323G>A, NM_001278122.1:c.323G>A, NM_001278121.2:c.323G>A, NM_001278121.1:c.323G>A, XM_047419315.1:c.884G>A, NP_006289.2:p.Arg295Lys, XP_011513172.1:p.Arg295Lys, XP_016866755.1:p.Arg295Lys, XP_011513176.1:p.Arg108Lys, NP_001265048.1:p.Arg295Lys, NP_001265051.1:p.Arg108Lys, NP_001265050.1:p.Arg108Lys, XP_047275271.1:p.Arg295Lys

Select item 144397747215.

rs1443977472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:28153831 (GRCh38)
6:28121609 (GRCh37)
Canonical SPDI:: NC_000006.12:28153830:C:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28153831C>A, NC_000006.11:g.28121609C>A, NM_006298.4:c.1551C>A, NM_006298.3:c.1551C>A, XM_011514870.3:c.1551C>A, XM_011514870.2:c.1551C>A, XM_011514870.1:c.1551C>A, XM_017011266.3:c.1551C>A, XM_017011266.2:c.1551C>A, XM_017011266.1:c.1551C>A, XM_011514874.3:c.990C>A, XM_011514874.2:c.990C>A, XM_011514874.1:c.990C>A, NM_001278119.2:c.1551C>A, NM_001278119.1:c.1551C>A, NM_001278122.2:c.990C>A, NM_001278122.1:c.990C>A, NM_001278121.2:c.990C>A, NM_001278121.1:c.990C>A, XM_047419315.1:c.1551C>A

Select item 144348493116.

rs1443484931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28153959 (GRCh38)
6:28121737 (GRCh37)
Canonical SPDI:: NC_000006.12:28153958:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153959G>A, NC_000006.11:g.28121737G>A, NM_006298.4:c.1679G>A, NM_006298.3:c.1679G>A, XM_011514870.3:c.1679G>A, XM_011514870.2:c.1679G>A, XM_011514870.1:c.1679G>A, XM_017011266.3:c.1679G>A, XM_017011266.2:c.1679G>A, XM_017011266.1:c.1679G>A, XM_011514874.3:c.1118G>A, XM_011514874.2:c.1118G>A, XM_011514874.1:c.1118G>A, NM_001278119.2:c.1679G>A, NM_001278119.1:c.1679G>A, NM_001278122.2:c.1118G>A, NM_001278122.1:c.1118G>A, NM_001278121.2:c.1118G>A, NM_001278121.1:c.1118G>A, XM_047419315.1:c.1679G>A, NP_006289.2:p.Ser560Asn, XP_011513172.1:p.Ser560Asn, XP_016866755.1:p.Ser560Asn, XP_011513176.1:p.Ser373Asn, NP_001265048.1:p.Ser560Asn, NP_001265051.1:p.Ser373Asn, NP_001265050.1:p.Ser373Asn, XP_047275271.1:p.Ser560Asn

Select item 143810832217.

rs1438108322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:28153734 (GRCh38)
6:28121512 (GRCh37)
Canonical SPDI:: NC_000006.12:28153733:C:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28153734C>A, NC_000006.11:g.28121512C>A, NM_006298.4:c.1454C>A, NM_006298.3:c.1454C>A, XM_011514870.3:c.1454C>A, XM_011514870.2:c.1454C>A, XM_011514870.1:c.1454C>A, XM_017011266.3:c.1454C>A, XM_017011266.2:c.1454C>A, XM_017011266.1:c.1454C>A, XM_011514874.3:c.893C>A, XM_011514874.2:c.893C>A, XM_011514874.1:c.893C>A, NM_001278119.2:c.1454C>A, NM_001278119.1:c.1454C>A, NM_001278122.2:c.893C>A, NM_001278122.1:c.893C>A, NM_001278121.2:c.893C>A, NM_001278121.1:c.893C>A, XM_047419315.1:c.1454C>A, NP_006289.2:p.Thr485Asn, XP_011513172.1:p.Thr485Asn, XP_016866755.1:p.Thr485Asn, XP_011513176.1:p.Thr298Asn, NP_001265048.1:p.Thr485Asn, NP_001265051.1:p.Thr298Asn, NP_001265050.1:p.Thr298Asn, XP_047275271.1:p.Thr485Asn

Select item 143689317318.

rs1436893173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28153319 (GRCh38)
6:28121097 (GRCh37)
Canonical SPDI:: NC_000006.12:28153318:G:A
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28153319G>A, NC_000006.11:g.28121097G>A, NM_006298.4:c.1039G>A, NM_006298.3:c.1039G>A, XM_011514870.3:c.1039G>A, XM_011514870.2:c.1039G>A, XM_011514870.1:c.1039G>A, XM_017011266.3:c.1039G>A, XM_017011266.2:c.1039G>A, XM_017011266.1:c.1039G>A, XM_011514874.3:c.478G>A, XM_011514874.2:c.478G>A, XM_011514874.1:c.478G>A, NM_001278119.2:c.1039G>A, NM_001278119.1:c.1039G>A, NM_001278122.2:c.478G>A, NM_001278122.1:c.478G>A, NM_001278121.2:c.478G>A, NM_001278121.1:c.478G>A, XM_047419315.1:c.1039G>A, NP_006289.2:p.Glu347Lys, XP_011513172.1:p.Glu347Lys, XP_016866755.1:p.Glu347Lys, XP_011513176.1:p.Glu160Lys, NP_001265048.1:p.Glu347Lys, NP_001265051.1:p.Glu160Lys, NP_001265050.1:p.Glu160Lys, XP_047275271.1:p.Glu347Lys

Select item 143579665519.

rs1435796655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28153089 (GRCh38)
6:28120867 (GRCh37)
Canonical SPDI:: NC_000006.12:28153088:C:T
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.28153089C>T, NC_000006.11:g.28120867C>T, NM_006298.4:c.809C>T, NM_006298.3:c.809C>T, XM_011514870.3:c.809C>T, XM_011514870.2:c.809C>T, XM_011514870.1:c.809C>T, XM_017011266.3:c.809C>T, XM_017011266.2:c.809C>T, XM_017011266.1:c.809C>T, XM_011514874.3:c.248C>T, XM_011514874.2:c.248C>T, XM_011514874.1:c.248C>T, NM_001278119.2:c.809C>T, NM_001278119.1:c.809C>T, NM_001278122.2:c.248C>T, NM_001278122.1:c.248C>T, NM_001278121.2:c.248C>T, NM_001278121.1:c.248C>T, XM_047419315.1:c.809C>T, NP_006289.2:p.Ala270Val, XP_011513172.1:p.Ala270Val, XP_016866755.1:p.Ala270Val, XP_011513176.1:p.Ala83Val, NP_001265048.1:p.Ala270Val, NP_001265051.1:p.Ala83Val, NP_001265050.1:p.Ala83Val, XP_047275271.1:p.Ala270Val

Select item 143336008320.

rs1433360083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:28153973 (GRCh38)
6:28121751 (GRCh37)
Canonical SPDI:: NC_000006.12:28153972:C:A,NC_000006.12:28153972:C:T
Gene:: ZKSCAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28153973C>A, NC_000006.12:g.28153973C>T, NC_000006.11:g.28121751C>A, NC_000006.11:g.28121751C>T, NM_006298.4:c.1693C>A, NM_006298.4:c.1693C>T, NM_006298.3:c.1693C>A, NM_006298.3:c.1693C>T, XM_011514870.3:c.1693C>A, XM_011514870.3:c.1693C>T, XM_011514870.2:c.1693C>A, XM_011514870.2:c.1693C>T, XM_011514870.1:c.1693C>A, XM_011514870.1:c.1693C>T, XM_017011266.3:c.1693C>A, XM_017011266.3:c.1693C>T, XM_017011266.2:c.1693C>A, XM_017011266.2:c.1693C>T, XM_017011266.1:c.1693C>A, XM_017011266.1:c.1693C>T, XM_011514874.3:c.1132C>A, XM_011514874.3:c.1132C>T, XM_011514874.2:c.1132C>A, XM_011514874.2:c.1132C>T, XM_011514874.1:c.1132C>A, XM_011514874.1:c.1132C>T, NM_001278119.2:c.1693C>A, NM_001278119.2:c.1693C>T, NM_001278119.1:c.1693C>A, NM_001278119.1:c.1693C>T, NM_001278122.2:c.1132C>A, NM_001278122.2:c.1132C>T, NM_001278122.1:c.1132C>A, NM_001278122.1:c.1132C>T, NM_001278121.2:c.1132C>A, NM_001278121.2:c.1132C>T, NM_001278121.1:c.1132C>A, NM_001278121.1:c.1132C>T, XM_047419315.1:c.1693C>A, XM_047419315.1:c.1693C>T, NP_006289.2:p.Gln565Lys, NP_006289.2:p.Gln565Ter, XP_011513172.1:p.Gln565Lys, XP_011513172.1:p.Gln565Ter, XP_016866755.1:p.Gln565Lys, XP_016866755.1:p.Gln565Ter, XP_011513176.1:p.Gln378Lys, XP_011513176.1:p.Gln378Ter, NP_001265048.1:p.Gln565Lys, NP_001265048.1:p.Gln565Ter, NP_001265051.1:p.Gln378Lys, NP_001265051.1:p.Gln378Ter, NP_001265050.1:p.Gln378Lys, NP_001265050.1:p.Gln378Ter, XP_047275271.1:p.Gln565Lys, XP_047275271.1:p.Gln565Ter

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Result Filters

Validation Status

Publication

Function Class

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 337

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