SNP Links for Protein (Select 14327896) - SNP

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:69174340 (GRCh38)
5:68470167 (GRCh37)
Canonical SPDI:: NC_000005.10:69174339:T:A
Gene:: CCNB1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69174340T>A, NC_000005.9:g.68470167T>A, NM_031966.4:c.636T>A, NM_031966.3:c.636T>A, NM_001354844.2:c.636T>A, NM_001354844.1:c.636T>A

Select item 14679341029.

rs1467934102 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGCCT>- [Show Flanks]
Chromosome:: 5:69168332 (GRCh38)
5:68464159 (GRCh37)
Canonical SPDI:: NC_000005.10:69168327:GCCTGAGCCT:GCCT
Gene:: CCNB1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.69168332_69168337del, NC_000005.9:g.68464159_68464164del, NM_031966.4:c.352_357del, NM_031966.3:c.352_357del, NM_001354844.2:c.352_357del, NM_001354844.1:c.352_357del, NM_001354845.2:c.352_357del, NM_001354845.1:c.352_357del, NP_114172.1:p.Glu118_Pro119del, NP_001341773.1:p.Glu118_Pro119del, NP_001341774.1:p.Glu118_Pro119del

Select item 146658052310.

rs1466580523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:69174346 (GRCh38)
5:68470173 (GRCh37)
Canonical SPDI:: NC_000005.10:69174345:G:A
Gene:: CCNB1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.69174346G>A, NC_000005.9:g.68470173G>A, NM_031966.4:c.642G>A, NM_031966.3:c.642G>A, NM_001354844.2:c.642G>A, NM_001354844.1:c.642G>A, NP_114172.1:p.Met214Ile, NP_001341773.1:p.Met214Ile

Select item 146547938011.

rs1465479380 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGCCAGAACC>- [Show Flanks]
Chromosome:: 5:69168277 (GRCh38)
5:68464104 (GRCh37)
Canonical SPDI:: NC_000005.10:69168274:CCAGAGCCAGAACC:CC
Gene:: CCNB1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.69168277_69168288del, NC_000005.9:g.68464104_68464115del, NM_031966.4:c.297_308del, NM_031966.3:c.297_308del, NM_001354844.2:c.297_308del, NM_001354844.1:c.297_308del, NM_001354845.2:c.297_308del, NM_001354845.1:c.297_308del, NP_114172.1:p.100EP[3], NP_001341773.1:p.100EP[3], NP_001341774.1:p.100EP[3]

Select item 146139466212.

rs1461394662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:69167990 (GRCh38)
5:68463817 (GRCh37)
Canonical SPDI:: NC_000005.10:69167989:C:G
Gene:: CCNB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69167990C>G, NC_000005.9:g.68463817C>G, NM_031966.4:c.104C>G, NM_031966.3:c.104C>G, NM_001354844.2:c.104C>G, NM_001354844.1:c.104C>G, NM_001354845.2:c.104C>G, NM_001354845.1:c.104C>G, NP_114172.1:p.Ser35Cys, NP_001341773.1:p.Ser35Cys, NP_001341774.1:p.Ser35Cys

Select item 145822127513.

rs1458221275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:69175083 (GRCh38)
5:68470910 (GRCh37)
Canonical SPDI:: NC_000005.10:69175082:C:A
Gene:: CCNB1 (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=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.69175083C>A, NC_000005.9:g.68470910C>A, NM_031966.4:c.912C>A, NM_031966.3:c.912C>A, NM_001354844.2:c.912C>A, NM_001354844.1:c.912C>A, NM_001354845.2:c.753C>A, NM_001354845.1:c.753C>A, NP_114172.1:p.His304Gln, NP_001341773.1:p.His304Gln, NP_001341774.1:p.His251Gln

Select item 145731603814.

rs1457316038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:69174982 (GRCh38)
5:68470809 (GRCh37)
Canonical SPDI:: NC_000005.10:69174981:T:G
Gene:: CCNB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.69174982T>G, NC_000005.9:g.68470809T>G, NM_031966.4:c.811T>G, NM_031966.3:c.811T>G, NM_001354844.2:c.811T>G, NM_001354844.1:c.811T>G, NM_001354845.2:c.652T>G, NM_001354845.1:c.652T>G, NP_114172.1:p.Phe271Val, NP_001341773.1:p.Phe271Val, NP_001341774.1:p.Phe218Val

Select item 145640644215.

rs1456406442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:69168241 (GRCh38)
5:68464068 (GRCh37)
Canonical SPDI:: NC_000005.10:69168240:T:C
Gene:: CCNB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.69168241T>C, NC_000005.9:g.68464068T>C, NM_031966.4:c.261T>C, NM_031966.3:c.261T>C, NM_001354844.2:c.261T>C, NM_001354844.1:c.261T>C, NM_001354845.2:c.261T>C, NM_001354845.1:c.261T>C

Select item 145536603716.

rs1455366037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:69177288 (GRCh38)
5:68473115 (GRCh37)
Canonical SPDI:: NC_000005.10:69177287:C:T
Gene:: CCNB1 (Varview), LOC124901203 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69177288C>T, NC_000005.9:g.68473115C>T, NM_031966.4:c.1133C>T, NM_031966.3:c.1133C>T, NM_001354845.2:c.974C>T, NM_001354845.1:c.974C>T, NP_114172.1:p.Pro378Leu, NP_001341774.1:p.Pro325Leu

Select item 145457715317.

rs1454577153 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 5:69175478 (GRCh38)
5:68471305 (GRCh37)
Canonical SPDI:: NC_000005.10:69175475:CTTCT:CT
Gene:: CCNB1 (Varview), LOC124901203 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.69175478_69175480del, NC_000005.9:g.68471305_68471307del, NM_031966.4:c.1024_1026del, NM_031966.3:c.1024_1026del, NM_001354844.2:c.1024_1026del, NM_001354844.1:c.1024_1026del, NM_001354845.2:c.865_867del, NM_001354845.1:c.865_867del, NP_114172.1:p.Ser342del, NP_001341773.1:p.Ser342del, NP_001341774.1:p.Ser289del

Select item 145093054118.

rs1450930541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:69175498 (GRCh38)
5:68471325 (GRCh37)
Canonical SPDI:: NC_000005.10:69175497:T:A,NC_000005.10:69175497:T:G
Gene:: CCNB1 (Varview), LOC124901203 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.69175498T>A, NC_000005.10:g.69175498T>G, NC_000005.9:g.68471325T>A, NC_000005.9:g.68471325T>G, NM_031966.4:c.1044T>A, NM_031966.4:c.1044T>G, NM_031966.3:c.1044T>A, NM_031966.3:c.1044T>G, NM_001354844.2:c.1044T>A, NM_001354844.2:c.1044T>G, NM_001354844.1:c.1044T>A, NM_001354844.1:c.1044T>G, NM_001354845.2:c.885T>A, NM_001354845.2:c.885T>G, NM_001354845.1:c.885T>A, NM_001354845.1:c.885T>G

Select item 144305216419.

rs1443052164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:69168280 (GRCh38)
5:68464107 (GRCh37)
Canonical SPDI:: NC_000005.10:69168279:G:A
Gene:: CCNB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.69168280G>A, NC_000005.9:g.68464107G>A, NM_031966.4:c.300G>A, NM_031966.3:c.300G>A, NM_001354844.2:c.300G>A, NM_001354844.1:c.300G>A, NM_001354845.2:c.300G>A, NM_001354845.1:c.300G>A

Select item 144238272120.

rs1442382721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:69177530 (GRCh38)
5:68473357 (GRCh37)
Canonical SPDI:: NC_000005.10:69177529:A:G
Gene:: CCNB1 (Varview), LOC124901203 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69177530A>G, NC_000005.9:g.68473357A>G, NM_031966.4:c.1201A>G, NM_031966.3:c.1201A>G, NM_001354844.2:c.1090A>G, NM_001354844.1:c.1090A>G, NM_001354845.2:c.1042A>G, NM_001354845.1:c.1042A>G, NP_114172.1:p.Lys401Glu, NP_001341773.1:p.Lys364Glu, NP_001341774.1:p.Lys348Glu

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