SNP Links for Protein (Select 281427272) - SNP

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Links from Protein

Items: 1 to 20 of 526

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Select item 14909517041.

rs1490951704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:55128425 (GRCh38)
5:54424253 (GRCh37)
Canonical SPDI:: NC_000005.10:55128424:A:T
Gene:: CDC20B (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_000005.10:g.55128425A>T, NC_000005.9:g.54424253A>T, NM_152623.2:c.890T>A, NM_001145734.2:c.890T>A, NM_001170402.1:c.890T>A, NP_689836.2:p.Val297Glu, NP_001139206.2:p.Val297Glu, NP_001163873.1:p.Val297Glu

Select item 14901330882.

rs1490133088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:55133508 (GRCh38)
5:54429336 (GRCh37)
Canonical SPDI:: NC_000005.10:55133507:C:A
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55133508C>A, NC_000005.9:g.54429336C>A, NM_152623.2:c.601G>T, NM_001145734.2:c.601G>T, NM_001170402.1:c.601G>T, NP_689836.2:p.Asp201Tyr, NP_001139206.2:p.Asp201Tyr, NP_001163873.1:p.Asp201Tyr

Select item 14829248473.

rs1482924847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55140389 (GRCh38)
5:54436217 (GRCh37)
Canonical SPDI:: NC_000005.10:55140388:A:G
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55140389A>G, NC_000005.9:g.54436217A>G, NM_152623.2:c.505T>C, NM_001145734.2:c.505T>C, NM_001170402.1:c.505T>C, NP_689836.2:p.Phe169Leu, NP_001139206.2:p.Phe169Leu, NP_001163873.1:p.Phe169Leu

Select item 14785642694.

rs1478564269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55119831 (GRCh38)
5:54415659 (GRCh37)
Canonical SPDI:: NC_000005.10:55119830:G:A
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55119831G>A, NC_000005.9:g.54415659G>A, NM_152623.2:c.1429C>T, NM_001145734.2:c.1303C>T, NM_001170402.1:c.1429C>T, NP_689836.2:p.Pro477Ser, NP_001139206.2:p.Pro435Ser, NP_001163873.1:p.Pro477Ser

Select item 14772280095.

rs1477228009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:55127320 (GRCh38)
5:54423148 (GRCh37)
Canonical SPDI:: NC_000005.10:55127319:C:T
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55127320C>T, NC_000005.9:g.54423148C>T, NM_152623.2:c.926G>A, NM_001145734.2:c.926G>A, NM_001170402.1:c.926G>A, NP_689836.2:p.Arg309Lys, NP_001139206.2:p.Arg309Lys, NP_001163873.1:p.Arg309Lys

Select item 14744085646.

rs1474408564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:55119819 (GRCh38)
5:54415647 (GRCh37)
Canonical SPDI:: NC_000005.10:55119818:T:G
Gene:: CDC20B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.55119819T>G, NC_000005.9:g.54415647T>G, NM_152623.2:c.1441A>C, NM_001145734.2:c.1315A>C, NM_001170402.1:c.1441A>C

Select item 14723294967.

rs1472329496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:55172950 (GRCh38)
5:54468778 (GRCh37)
Canonical SPDI:: NC_000005.10:55172949:C:G
Gene:: CDC20B (Varview), MIR449C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55172950C>G, NC_000005.9:g.54468778C>G, NG_077730.1:g.150C>G, NM_152623.2:c.51G>C, NM_001145734.2:c.51G>C, NM_001170402.1:c.51G>C, NP_689836.2:p.Glu17Asp, NP_001139206.2:p.Glu17Asp, NP_001163873.1:p.Glu17Asp

Select item 14711174848.

rs1471117484 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 5:55127348 (GRCh38)
5:54423176 (GRCh37)
Canonical SPDI:: NC_000005.10:55127347:A:
Gene:: CDC20B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55127348del, NC_000005.9:g.54423176del, NM_152623.2:c.898del, NM_001145734.2:c.898del, NM_001170402.1:c.898del, NP_689836.2:p.Trp300fs, NP_001139206.2:p.Trp300fs, NP_001163873.1:p.Trp300fs

Select item 14703467159.

rs1470346715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:55114232 (GRCh38)
5:54410060 (GRCh37)
Canonical SPDI:: NC_000005.10:55114231:A:C
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.55114232A>C, NC_000005.9:g.54410060A>C, NM_152623.2:c.1534T>G, NM_001145734.2:c.1420T>G, NM_001170402.1:c.1546T>G, NP_689836.2:p.Trp512Gly, NP_001139206.2:p.Trp474Gly, NP_001163873.1:p.Trp516Gly

Select item 146698866810.

rs1466988668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55146639 (GRCh38)
5:54442467 (GRCh37)
Canonical SPDI:: NC_000005.10:55146638:G:A
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.55146639G>A, NC_000005.9:g.54442467G>A, NM_152623.2:c.344C>T, NM_001145734.2:c.344C>T, NM_001170402.1:c.344C>T, NP_689836.2:p.Thr115Ile, NP_001139206.2:p.Thr115Ile, NP_001163873.1:p.Thr115Ile

Select item 146639900611.

rs1466399006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55120542 (GRCh38)
5:54416370 (GRCh37)
Canonical SPDI:: NC_000005.10:55120541:A:G
Gene:: CDC20B (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.55120542A>G, NC_000005.9:g.54416370A>G, NM_152623.2:c.1224T>C, NM_001170402.1:c.1224T>C

Select item 146582455112.

rs1465824551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:55146766 (GRCh38)
5:54442595 (GRCh37)
Canonical SPDI:: NC_000005.10:55146766:GGGG:GGGGG
Gene:: CDC20B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55146770dup, NC_000005.9:g.54442598dup, NM_152623.2:c.216dup, NM_001145734.2:c.216dup, NM_001170402.1:c.216dup, NP_689836.2:p.Ile73fs, NP_001139206.2:p.Ile73fs, NP_001163873.1:p.Ile73fs

Select item 146358960313.

rs1463589603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:55133418 (GRCh38)
5:54429246 (GRCh37)
Canonical SPDI:: NC_000005.10:55133417:C:T
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.55133418C>T, NC_000005.9:g.54429246C>T, NM_152623.2:c.691G>A, NM_001145734.2:c.691G>A, NM_001170402.1:c.691G>A, NP_689836.2:p.Asp231Asn, NP_001139206.2:p.Asp231Asn, NP_001163873.1:p.Asp231Asn

Select item 145852305314.

rs1458523053 [Homo sapiens]

Variant type:: DEL
Alleles:: CAT>- [Show Flanks]
Chromosome:: 5:55172639 (GRCh38)
5:54468467 (GRCh37)
Canonical SPDI:: NC_000005.10:55172638:CAT:
Gene:: CDC20B (Varview), MIR449B (Varview), MIR449C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55172639_55172641del, NC_000005.9:g.54468467_54468469del, NM_152623.2:c.73_75del, NM_001145734.2:c.73_75del, NM_001170402.1:c.73_75del, NP_689836.2:p.Met25del, NP_001139206.2:p.Met25del, NP_001163873.1:p.Met25del

Select item 145714554715.

rs1457145547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:55172969 (GRCh38)
5:54468797 (GRCh37)
Canonical SPDI:: NC_000005.10:55172968:C:G
Gene:: CDC20B (Varview), MIR449C (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.55172969C>G, NC_000005.9:g.54468797C>G, NG_077730.1:g.169C>G, NM_152623.2:c.32G>C, NM_001145734.2:c.32G>C, NM_001170402.1:c.32G>C, NP_689836.2:p.Arg11Pro, NP_001139206.2:p.Arg11Pro, NP_001163873.1:p.Arg11Pro

Select item 145395360616.

rs1453953606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55128530 (GRCh38)
5:54424358 (GRCh37)
Canonical SPDI:: NC_000005.10:55128529:T:C
Gene:: CDC20B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.55128530T>C, NC_000005.9:g.54424358T>C, NM_152623.2:c.785A>G, NM_001145734.2:c.785A>G, NM_001170402.1:c.785A>G, NP_689836.2:p.Asn262Ser, NP_001139206.2:p.Asn262Ser, NP_001163873.1:p.Asn262Ser

Select item 145345394917.

rs1453453949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55120439 (GRCh38)
5:54416267 (GRCh37)
Canonical SPDI:: NC_000005.10:55120438:T:C
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.55120439T>C, NC_000005.9:g.54416267T>C, NM_152623.2:c.1327A>G, NM_001170402.1:c.1327A>G, NP_689836.2:p.Ser443Gly, NP_001163873.1:p.Ser443Gly

Select item 145309577118.

rs1453095771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55146851 (GRCh38)
5:54442679 (GRCh37)
Canonical SPDI:: NC_000005.10:55146850:G:A
Gene:: CDC20B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55146851G>A, NC_000005.9:g.54442679G>A, NM_152623.2:c.132C>T, NM_001145734.2:c.132C>T, NM_001170402.1:c.132C>T

Select item 145305440419.

rs1453054404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55120515 (GRCh38)
5:54416343 (GRCh37)
Canonical SPDI:: NC_000005.10:55120514:A:G
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.55120515A>G, NC_000005.9:g.54416343A>G, NM_152623.2:c.1251T>C, NM_001170402.1:c.1251T>C

Select item 145151157120.

rs1451511571 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:55119828 (GRCh38)
5:54415657 (GRCh37)
Canonical SPDI:: NC_000005.10:55119828:GGG:GGGG
Gene:: CDC20B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55119831dup, NC_000005.9:g.54415659dup, NM_152623.2:c.1431dup, NM_001145734.2:c.1305dup, NM_001170402.1:c.1431dup, NP_689836.2:p.Thr478fs, NP_001139206.2:p.Thr436fs, NP_001163873.1:p.Thr478fs

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