SNP Links for Protein (Select 148596996) - SNP

Links from Protein

Items: 1 to 20 of 244

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Select item 14893196471.

rs1489319647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:102424390 (GRCh38)
10:104184147 (GRCh37)
Canonical SPDI:: NC_000010.11:102424389:G:T
Gene:: CUEDC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.102424390G>T, NC_000010.10:g.104184147G>T, NM_024040.3:c.285C>A, NM_024040.2:c.285C>A, NP_076945.2:p.Asn95Lys

Select item 14804799942.

rs1480479994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102423549 (GRCh38)
10:104183306 (GRCh37)
Canonical SPDI:: NC_000010.11:102423548:G:A
Gene:: CUEDC2 (Varview), FBXL15 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.102423549G>A, NC_000010.10:g.104183306G>A, NM_024040.3:c.741C>T, NM_024040.2:c.741C>T

Select item 14749023763.

rs1474902376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102423553 (GRCh38)
10:104183310 (GRCh37)
Canonical SPDI:: NC_000010.11:102423552:C:T
Gene:: CUEDC2 (Varview), FBXL15 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
HGVS:: NC_000010.11:g.102423553C>T, NC_000010.10:g.104183310C>T, NM_024040.3:c.737G>A, NM_024040.2:c.737G>A, NP_076945.2:p.Arg246Gln

Select item 14739083864.

rs1473908386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:102424167 (GRCh38)
10:104183924 (GRCh37)
Canonical SPDI:: NC_000010.11:102424166:A:G
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.102424167A>G, NC_000010.10:g.104183924A>G, NM_024040.3:c.423T>C, NM_024040.2:c.423T>C

Select item 14715544475.

rs1471554447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102424071 (GRCh38)
10:104183828 (GRCh37)
Canonical SPDI:: NC_000010.11:102424070:C:T
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000389/7 (TOMMO)
HGVS:: NC_000010.11:g.102424071C>T, NC_000010.10:g.104183828C>T, NM_024040.3:c.519G>A, NM_024040.2:c.519G>A

Select item 14710197186.

rs1471019718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102425163 (GRCh38)
10:104184920 (GRCh37)
Canonical SPDI:: NC_000010.11:102425162:G:A
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.102425163G>A, NC_000010.10:g.104184920G>A, NM_024040.3:c.26C>T, NM_024040.2:c.26C>T, NP_076945.2:p.Ala9Val

Select item 14709154647.

rs1470915464 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 10:102424776 (GRCh38)
10:104184533 (GRCh37)
Canonical SPDI:: NC_000010.11:102424773:GATGA:GA
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102424776_102424778del, NC_000010.10:g.104184533_104184535del, NM_024040.3:c.91_93del, NM_024040.2:c.91_93del, NP_076945.2:p.Ile31del

Select item 14650769968.

rs1465076996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:102424508 (GRCh38)
10:104184265 (GRCh37)
Canonical SPDI:: NC_000010.11:102424507:T:C
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102424508T>C, NC_000010.10:g.104184265T>C, NM_024040.3:c.271A>G, NM_024040.2:c.271A>G, NP_076945.2:p.Arg91Gly

Select item 14575966959.

rs1457596695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:102424337 (GRCh38)
10:104184094 (GRCh37)
Canonical SPDI:: NC_000010.11:102424336:G:C
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.102424337G>C, NC_000010.10:g.104184094G>C, NM_024040.3:c.338C>G, NM_024040.2:c.338C>G, NP_076945.2:p.Pro113Arg

Select item 145155959310.

rs1451559593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:102423467 (GRCh38)
10:104183224 (GRCh37)
Canonical SPDI:: NC_000010.11:102423466:A:C
Gene:: CUEDC2 (Varview), FBXL15 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102423467A>C, NC_000010.10:g.104183224A>C, NM_024040.3:c.823T>G, NM_024040.2:c.823T>G, NP_076945.2:p.Tyr275Asp

Select item 144859811211.

rs1448598112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102425132 (GRCh38)
10:104184889 (GRCh37)
Canonical SPDI:: NC_000010.11:102425131:G:A
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102425132G>A, NC_000010.10:g.104184889G>A, NM_024040.3:c.57C>T, NM_024040.2:c.57C>T

Select item 143329213212.

rs1433292132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102425171 (GRCh38)
10:104184928 (GRCh37)
Canonical SPDI:: NC_000010.11:102425170:G:A
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.102425171G>A, NC_000010.10:g.104184928G>A, NM_024040.3:c.18C>T, NM_024040.2:c.18C>T

Select item 143203485913.

rs1432034859 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:102424069 (GRCh38)
10:104183827 (GRCh37)
Canonical SPDI:: NC_000010.11:102424069:CCCCCC:CCCCCCC
Gene:: CUEDC2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000010.11:g.102424075dup, NC_000010.10:g.104183832dup, NM_024040.3:c.520dup, NM_024040.2:c.520dup, NP_076945.2:p.Asp174fs

Select item 141656661214.

rs1416566612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:102424033 (GRCh38)
10:104183790 (GRCh37)
Canonical SPDI:: NC_000010.11:102424032:T:C
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.102424033T>C, NC_000010.10:g.104183790T>C, NM_024040.3:c.557A>G, NM_024040.2:c.557A>G, NP_076945.2:p.Lys186Arg

Select item 141411608415.

rs1414116084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102424076 (GRCh38)
10:104183833 (GRCh37)
Canonical SPDI:: NC_000010.11:102424075:G:A
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.102424076G>A, NC_000010.10:g.104183833G>A, NM_024040.3:c.514C>T, NM_024040.2:c.514C>T, NP_076945.2:p.Arg172Trp

Select item 141289807816.

rs1412898078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102424335 (GRCh38)
10:104184092 (GRCh37)
Canonical SPDI:: NC_000010.11:102424334:G:A
Gene:: CUEDC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102424335G>A, NC_000010.10:g.104184092G>A, NM_024040.3:c.340C>T, NM_024040.2:c.340C>T

Select item 141267862117.

rs1412678621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:102424779 (GRCh38)
10:104184536 (GRCh37)
Canonical SPDI:: NC_000010.11:102424778:C:G
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102424779C>G, NC_000010.10:g.104184536C>G, NM_024040.3:c.88G>C, NM_024040.2:c.88G>C, NP_076945.2:p.Val30Leu

Select item 141119711618.

rs1411197116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102424326 (GRCh38)
10:104184083 (GRCh37)
Canonical SPDI:: NC_000010.11:102424325:G:A
Gene:: CUEDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.102424326G>A, NC_000010.10:g.104184083G>A, NM_024040.3:c.349C>T, NM_024040.2:c.349C>T, NP_076945.2:p.Pro117Ser

Select item 140922744919.

rs1409227449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102424681 (GRCh38)
10:104184438 (GRCh37)
Canonical SPDI:: NC_000010.11:102424680:C:T
Gene:: CUEDC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/10 (GnomAD_exomes)
T=0.000091/24 (TOPMED)
T=0.000157/22 (GnomAD)
HGVS:: NC_000010.11:g.102424681C>T, NC_000010.10:g.104184438C>T, NM_024040.3:c.186G>A, NM_024040.2:c.186G>A

Select item 140492714820.

rs1404927148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:102424499 (GRCh38)
10:104184256 (GRCh37)
Canonical SPDI:: NC_000010.11:102424498:C:G
Gene:: CUEDC2 (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_000010.11:g.102424499C>G, NC_000010.10:g.104184256C>G, NM_024040.3:c.280G>C, NM_024040.2:c.280G>C, NP_076945.2:p.Glu94Gln

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