SNP Links for Protein (Select 334191679) - SNP

Links from Protein

Items: 1 to 20 of 82

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Select item 14882642751.

rs1488264275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:9340171 (GRCh38)
4:9341897 (GRCh37)
Canonical SPDI:: NC_000004.12:9340170:T:G
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340171T>G, NC_000004.11:g.9341897T>G, NM_001242329.1:c.769T>G, NP_001229258.1:p.Cys257Gly

Select item 14875852792.

rs1487585279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:9340152 (GRCh38)
4:9341878 (GRCh37)
Canonical SPDI:: NC_000004.12:9340151:T:A
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340152T>A, NC_000004.11:g.9341878T>A, NM_001242329.1:c.750T>A, NP_001229258.1:p.Asn250Lys

Select item 14777432653.

rs1477743265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:9340118 (GRCh38)
4:9341844 (GRCh37)
Canonical SPDI:: NC_000004.12:9340117:A:C
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340118A>C, NC_000004.11:g.9341844A>C, NM_001242329.1:c.716A>C, NP_001229258.1:p.Gln239Pro

Select item 14700023724.

rs1470002372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:9340104 (GRCh38)
4:9341830 (GRCh37)
Canonical SPDI:: NC_000004.12:9340103:G:A
Gene:: USP17L5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.9340104G>A, NC_000004.11:g.9341830G>A, NM_001242329.1:c.702G>A

Select item 14654217775.

rs1465421777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:9339885 (GRCh38)
4:9341611 (GRCh37)
Canonical SPDI:: NC_000004.12:9339884:C:T
Gene:: USP17L5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (SGDP_PRJ)
T=0.036/19 (KOREAN)
HGVS:: NC_000004.12:g.9339885C>T, NC_000004.11:g.9341611C>T, NM_001242329.1:c.483C>T

Select item 14650030986.

rs1465003098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:9339809 (GRCh38)
4:9341535 (GRCh37)
Canonical SPDI:: NC_000004.12:9339808:T:C
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.9339809T>C, NC_000004.11:g.9341535T>C, NM_001242329.1:c.407T>C, NP_001229258.1:p.Leu136Pro

Select item 14591545777.

rs1459154577 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:9340122 (GRCh38)
4:9341848 (GRCh37)
Canonical SPDI:: NC_000004.12:9340121:GG:G
Gene:: USP17L5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340123del, NC_000004.11:g.9341849del, NM_001242329.1:c.721del, NP_001229258.1:p.Ala241fs

Select item 14580188558.

rs1458018855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:9339477 (GRCh38)
4:9341203 (GRCh37)
Canonical SPDI:: NC_000004.12:9339476:C:A
Gene:: USP17L5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.25/15 (KOREAN)
HGVS:: NC_000004.12:g.9339477C>A, NC_000004.11:g.9341203C>A, NM_001242329.1:c.75C>A

Select item 14559978519.

rs1455997851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:9340194 (GRCh38)
4:9341920 (GRCh37)
Canonical SPDI:: NC_000004.12:9340193:C:A
Gene:: USP17L5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340194C>A, NC_000004.11:g.9341920C>A, NM_001242329.1:c.792C>A

Select item 145568672410.

rs1455686724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:9339708 (GRCh38)
4:9341434 (GRCh37)
Canonical SPDI:: NC_000004.12:9339707:G:A
Gene:: USP17L5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.9339708G>A, NC_000004.11:g.9341434G>A, NM_001242329.1:c.306G>A

Select item 144859514911.

rs1448595149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:9340664 (GRCh38)
4:9342390 (GRCh37)
Canonical SPDI:: NC_000004.12:9340663:A:G
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.9340664A>G, NC_000004.11:g.9342390A>G, NM_001242329.1:c.1262A>G, NP_001229258.1:p.Asp421Gly

Select item 143148948612.

rs1431489486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:9340112 (GRCh38)
4:9341838 (GRCh37)
Canonical SPDI:: NC_000004.12:9340111:T:C
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340112T>C, NC_000004.11:g.9341838T>C, NM_001242329.1:c.710T>C, NP_001229258.1:p.Leu237Ser

Select item 142496754713.

rs1424967547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:9340116 (GRCh38)
4:9341842 (GRCh37)
Canonical SPDI:: NC_000004.12:9340115:A:C,NC_000004.12:9340115:A:T
Gene:: USP17L5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (SGDP_PRJ)
HGVS:: NC_000004.12:g.9340116A>C, NC_000004.12:g.9340116A>T, NC_000004.11:g.9341842A>C, NC_000004.11:g.9341842A>T, NM_001242329.1:c.714A>C, NM_001242329.1:c.714A>T, NP_001229258.1:p.Glu238Asp, NP_001229258.1:p.Glu238Asp

Select item 142473525214.

rs1424735252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:9340187 (GRCh38)
4:9341913 (GRCh37)
Canonical SPDI:: NC_000004.12:9340186:C:T
Gene:: USP17L5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00181/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.9340187C>T, NC_000004.11:g.9341913C>T, NM_001242329.1:c.785C>T, NP_001229258.1:p.Pro262Leu

Select item 142170812715.

rs1421708127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:9340498 (GRCh38)
4:9342224 (GRCh37)
Canonical SPDI:: NC_000004.12:9340497:C:A
Gene:: USP17L5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.9340498C>A, NC_000004.11:g.9342224C>A, NM_001242329.1:c.1096C>A, NP_001229258.1:p.Gln366Lys

Select item 142053148416.

rs1420531484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:9340186 (GRCh38)
4:9341912 (GRCh37)
Canonical SPDI:: NC_000004.12:9340185:C:A,NC_000004.12:9340185:C:T
Gene:: USP17L5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.9340186C>A, NC_000004.12:g.9340186C>T, NC_000004.11:g.9341912C>A, NC_000004.11:g.9341912C>T, NM_001242329.1:c.784C>A, NM_001242329.1:c.784C>T, NP_001229258.1:p.Pro262Thr, NP_001229258.1:p.Pro262Ser

Select item 141853668917.

rs1418536689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:9340591 (GRCh38)
4:9342317 (GRCh37)
Canonical SPDI:: NC_000004.12:9340590:G:A
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340591G>A, NC_000004.11:g.9342317G>A, NM_001242329.1:c.1189G>A, NP_001229258.1:p.Glu397Lys

Select item 140154626718.

rs1401546267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:9339846 (GRCh38)
4:9341572 (GRCh37)
Canonical SPDI:: NC_000004.12:9339845:A:T
Gene:: USP17L5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (SGDP_PRJ)
T=0.116/64 (KOREAN)
HGVS:: NC_000004.12:g.9339846A>T, NC_000004.11:g.9341572A>T, NM_001242329.1:c.444A>T

Select item 139708175219.

rs1397081752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:9340120 (GRCh38)
4:9341846 (GRCh37)
Canonical SPDI:: NC_000004.12:9340119:T:C,NC_000004.12:9340119:T:G
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (SGDP_PRJ)
HGVS:: NC_000004.12:g.9340120T>C, NC_000004.12:g.9340120T>G, NC_000004.11:g.9341846T>C, NC_000004.11:g.9341846T>G, NM_001242329.1:c.718T>C, NM_001242329.1:c.718T>G, NP_001229258.1:p.Leu240Val

Select item 139638910020.

rs1396389100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:9340252 (GRCh38)
4:9341978 (GRCh37)
Canonical SPDI:: NC_000004.12:9340251:T:C
Gene:: USP17L5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.9340252T>C, NC_000004.11:g.9341978T>C, NM_001242329.1:c.850T>C, NP_001229258.1:p.Ser284Pro

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Items: 1 to 20 of 82

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