SNP Links for Protein (Select 429535844) - SNP

Links from Protein

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Select item 14905020141.

rs1490502014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:96385667 (GRCh38)
14:96852004 (GRCh37)
Canonical SPDI:: NC_000014.9:96385666:A:G,NC_000014.9:96385666:A:T
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
HGVS:: NC_000014.9:g.96385667A>G, NC_000014.9:g.96385667A>T, NC_000014.8:g.96852004A>G, NC_000014.8:g.96852004A>T, NM_016472.5:c.403A>G, NM_016472.5:c.403A>T, NM_016472.4:c.403A>G, NM_016472.4:c.403A>T, NM_001271905.2:c.403A>G, NM_001271905.2:c.403A>T, NM_001271905.1:c.403A>G, NM_001271905.1:c.403A>T, NM_001271906.2:c.403A>G, NM_001271906.2:c.403A>T, NM_001271906.1:c.403A>G, NM_001271906.1:c.403A>T, NM_001271904.1:c.403A>G, NM_001271904.1:c.403A>T, NP_057556.2:p.Arg135Gly, NP_057556.2:p.Arg135Ter, NP_001258834.1:p.Arg135Gly, NP_001258834.1:p.Arg135Ter, NP_001258835.1:p.Arg135Gly, NP_001258835.1:p.Arg135Ter, NP_001258833.1:p.Arg135Gly, NP_001258833.1:p.Arg135Ter

Select item 14869928972.

rs1486992897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:96382398 (GRCh38)
14:96848735 (GRCh37)
Canonical SPDI:: NC_000014.9:96382397:A:C
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000014.9:g.96382398A>C, NC_000014.8:g.96848735A>C, NM_016472.5:c.151A>C, NM_016472.4:c.151A>C, NM_001271905.2:c.151A>C, NM_001271905.1:c.151A>C, NM_001271906.2:c.151A>C, NM_001271906.1:c.151A>C, NM_001271904.1:c.151A>C, NP_057556.2:p.Met51Leu, NP_001258834.1:p.Met51Leu, NP_001258835.1:p.Met51Leu, NP_001258833.1:p.Met51Leu

Select item 14811229073.

rs1481122907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:96382255 (GRCh38)
14:96848592 (GRCh37)
Canonical SPDI:: NC_000014.9:96382254:C:A
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000014.9:g.96382255C>A, NC_000014.8:g.96848592C>A, NM_016472.5:c.8C>A, NM_016472.4:c.8C>A, NM_001271905.2:c.8C>A, NM_001271905.1:c.8C>A, NM_001271906.2:c.8C>A, NM_001271906.1:c.8C>A, NM_001271904.1:c.8C>A, NP_057556.2:p.Thr3Lys, NP_001258834.1:p.Thr3Lys, NP_001258835.1:p.Thr3Lys, NP_001258833.1:p.Thr3Lys

Select item 14567687184.

rs1456768718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:96385597 (GRCh38)
14:96851934 (GRCh37)
Canonical SPDI:: NC_000014.9:96385596:G:A
Gene:: GSKIP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96385597G>A, NC_000014.8:g.96851934G>A, NM_016472.5:c.333G>A, NM_016472.4:c.333G>A, NM_001271905.2:c.333G>A, NM_001271905.1:c.333G>A, NM_001271906.2:c.333G>A, NM_001271906.1:c.333G>A, NM_001271904.1:c.333G>A

Select item 14536863845.

rs1453686384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:96382481 (GRCh38)
14:96848818 (GRCh37)
Canonical SPDI:: NC_000014.9:96382480:A:T
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96382481A>T, NC_000014.8:g.96848818A>T, NM_016472.5:c.234A>T, NM_016472.4:c.234A>T, NM_001271905.2:c.234A>T, NM_001271905.1:c.234A>T, NM_001271906.2:c.234A>T, NM_001271906.1:c.234A>T, NM_001271904.1:c.234A>T

Select item 14523694946.

rs1452369494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:96385537 (GRCh38)
14:96851874 (GRCh37)
Canonical SPDI:: NC_000014.9:96385536:T:C,NC_000014.9:96385536:T:G
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.96385537T>C, NC_000014.9:g.96385537T>G, NC_000014.8:g.96851874T>C, NC_000014.8:g.96851874T>G, NM_016472.5:c.273T>C, NM_016472.5:c.273T>G, NM_016472.4:c.273T>C, NM_016472.4:c.273T>G, NM_001271905.2:c.273T>C, NM_001271905.2:c.273T>G, NM_001271905.1:c.273T>C, NM_001271905.1:c.273T>G, NM_001271906.2:c.273T>C, NM_001271906.2:c.273T>G, NM_001271906.1:c.273T>C, NM_001271906.1:c.273T>G, NM_001271904.1:c.273T>C, NM_001271904.1:c.273T>G

Select item 14391509257.

rs1439150925 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:96382446 (GRCh38)
14:96848783 (GRCh37)
Canonical SPDI:: NC_000014.9:96382445:AA:A
Gene:: GSKIP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.96382447del, NC_000014.8:g.96848784del, NM_016472.5:c.200del, NM_016472.4:c.200del, NM_001271905.2:c.200del, NM_001271905.1:c.200del, NM_001271906.2:c.200del, NM_001271906.1:c.200del, NM_001271904.1:c.200del, NP_057556.2:p.Asn67fs, NP_001258834.1:p.Asn67fs, NP_001258835.1:p.Asn67fs, NP_001258833.1:p.Asn67fs

Select item 14240976148.

rs1424097614 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 14:96382257 (GRCh38)
14:96848594 (GRCh37)
Canonical SPDI:: NC_000014.9:96382255:AGA:A
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.96382257_96382258del, NC_000014.8:g.96848594_96848595del, NM_016472.5:c.10_11del, NM_016472.4:c.10_11del, NM_001271905.2:c.10_11del, NM_001271905.1:c.10_11del, NM_001271906.2:c.10_11del, NM_001271906.1:c.10_11del, NM_001271904.1:c.10_11del, NP_057556.2:p.Asp4fs, NP_001258834.1:p.Asp4fs, NP_001258835.1:p.Asp4fs, NP_001258833.1:p.Asp4fs

Select item 14178081629.

rs1417808162 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 14:96382375 (GRCh38)
14:96848713 (GRCh37)
Canonical SPDI:: NC_000014.9:96382375:T:TTT
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000014.9:g.96382376_96382377insTT, NC_000014.8:g.96848713_96848714insTT, NM_016472.5:c.129_130insTT, NM_016472.4:c.129_130insTT, NM_001271905.2:c.129_130insTT, NM_001271905.1:c.129_130insTT, NM_001271906.2:c.129_130insTT, NM_001271906.1:c.129_130insTT, NM_001271904.1:c.129_130insTT, NP_057556.2:p.Val44fs, NP_001258834.1:p.Val44fs, NP_001258835.1:p.Val44fs, NP_001258833.1:p.Val44fs

Select item 140557468710.

rs1405574687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:96382479 (GRCh38)
14:96848816 (GRCh37)
Canonical SPDI:: NC_000014.9:96382478:C:T
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.96382479C>T, NC_000014.8:g.96848816C>T, NM_016472.5:c.232C>T, NM_016472.4:c.232C>T, NM_001271905.2:c.232C>T, NM_001271905.1:c.232C>T, NM_001271906.2:c.232C>T, NM_001271906.1:c.232C>T, NM_001271904.1:c.232C>T

Select item 140500036711.

rs1405000367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:96385611 (GRCh38)
14:96851948 (GRCh37)
Canonical SPDI:: NC_000014.9:96385610:C:A,NC_000014.9:96385610:C:T
Gene:: GSKIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.96385611C>A, NC_000014.9:g.96385611C>T, NC_000014.8:g.96851948C>A, NC_000014.8:g.96851948C>T, NM_016472.5:c.347C>A, NM_016472.5:c.347C>T, NM_016472.4:c.347C>A, NM_016472.4:c.347C>T, NM_001271905.2:c.347C>A, NM_001271905.2:c.347C>T, NM_001271905.1:c.347C>A, NM_001271905.1:c.347C>T, NM_001271906.2:c.347C>A, NM_001271906.2:c.347C>T, NM_001271906.1:c.347C>A, NM_001271906.1:c.347C>T, NM_001271904.1:c.347C>A, NM_001271904.1:c.347C>T, NP_057556.2:p.Pro116His, NP_057556.2:p.Pro116Leu, NP_001258834.1:p.Pro116His, NP_001258834.1:p.Pro116Leu, NP_001258835.1:p.Pro116His, NP_001258835.1:p.Pro116Leu, NP_001258833.1:p.Pro116His, NP_001258833.1:p.Pro116Leu

Select item 138696837212.

rs1386968372 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 14:96382374 (GRCh38)
14:96848712 (GRCh37)
Canonical SPDI:: NC_000014.9:96382374::TTT
Gene:: GSKIP (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
HGVS:: NC_000014.9:g.96382374_96382375insTTT, NC_000014.8:g.96848711_96848712insTTT, NM_016472.5:c.127_128insTTT, NM_016472.4:c.127_128insTTT, NM_001271905.2:c.127_128insTTT, NM_001271905.1:c.127_128insTTT, NM_001271906.2:c.127_128insTTT, NM_001271906.1:c.127_128insTTT, NM_001271904.1:c.127_128insTTT, NP_057556.2:p.Asp43delinsValTyr, NP_001258834.1:p.Asp43delinsValTyr, NP_001258835.1:p.Asp43delinsValTyr, NP_001258833.1:p.Asp43delinsValTyr

Select item 138237448813.

rs1382374488 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 14:96382396 (GRCh38)
14:96848733 (GRCh37)
Canonical SPDI:: NC_000014.9:96382391:AACAACA:AACA
Gene:: GSKIP (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96382393ACA[1], NC_000014.8:g.96848730ACA[1], NM_016472.5:c.146ACA[1], NM_016472.4:c.146ACA[1], NM_001271905.2:c.146ACA[1], NM_001271905.1:c.146ACA[1], NM_001271906.2:c.146ACA[1], NM_001271906.1:c.146ACA[1], NM_001271904.1:c.146ACA[1], NP_057556.2:p.Asn50del, NP_001258834.1:p.Asn50del, NP_001258835.1:p.Asn50del, NP_001258833.1:p.Asn50del

Select item 137339049614.

rs1373390496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:96382282 (GRCh38)
14:96848619 (GRCh37)
Canonical SPDI:: NC_000014.9:96382281:G:A
Gene:: GSKIP (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_000014.9:g.96382282G>A, NC_000014.8:g.96848619G>A, NM_016472.5:c.35G>A, NM_016472.4:c.35G>A, NM_001271905.2:c.35G>A, NM_001271905.1:c.35G>A, NM_001271906.2:c.35G>A, NM_001271906.1:c.35G>A, NM_001271904.1:c.35G>A, NP_057556.2:p.Ser12Asn, NP_001258834.1:p.Ser12Asn, NP_001258835.1:p.Ser12Asn, NP_001258833.1:p.Ser12Asn

Select item 136679169415.

rs1366791694 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 14:96385608 (GRCh38)
14:96851945 (GRCh37)
Canonical SPDI:: NC_000014.9:96385607:G:
Gene:: GSKIP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96385608del, NC_000014.8:g.96851945del, NM_016472.5:c.344del, NM_016472.4:c.344del, NM_001271905.2:c.344del, NM_001271905.1:c.344del, NM_001271906.2:c.344del, NM_001271906.1:c.344del, NM_001271904.1:c.344del, NP_057556.2:p.Ser115fs, NP_001258834.1:p.Ser115fs, NP_001258835.1:p.Ser115fs, NP_001258833.1:p.Ser115fs

Select item 136569027116.

rs1365690271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:96382433 (GRCh38)
14:96848770 (GRCh37)
Canonical SPDI:: NC_000014.9:96382432:T:C
Gene:: GSKIP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000248/4 (TOMMO)
HGVS:: NC_000014.9:g.96382433T>C, NC_000014.8:g.96848770T>C, NM_016472.5:c.186T>C, NM_016472.4:c.186T>C, NM_001271905.2:c.186T>C, NM_001271905.1:c.186T>C, NM_001271906.2:c.186T>C, NM_001271906.1:c.186T>C, NM_001271904.1:c.186T>C

Select item 136442782117.

rs1364427821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:96385557 (GRCh38)
14:96851894 (GRCh37)
Canonical SPDI:: NC_000014.9:96385556:A:G
Gene:: GSKIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.96385557A>G, NC_000014.8:g.96851894A>G, NM_016472.5:c.293A>G, NM_016472.4:c.293A>G, NM_001271905.2:c.293A>G, NM_001271905.1:c.293A>G, NM_001271906.2:c.293A>G, NM_001271906.1:c.293A>G, NM_001271904.1:c.293A>G, NP_057556.2:p.His98Arg, NP_001258834.1:p.His98Arg, NP_001258835.1:p.His98Arg, NP_001258833.1:p.His98Arg

Select item 136437399018.

rs1364373990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:96382467 (GRCh38)
14:96848804 (GRCh37)
Canonical SPDI:: NC_000014.9:96382466:A:G
Gene:: GSKIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96382467A>G, NC_000014.8:g.96848804A>G, NM_016472.5:c.220A>G, NM_016472.4:c.220A>G, NM_001271905.2:c.220A>G, NM_001271905.1:c.220A>G, NM_001271906.2:c.220A>G, NM_001271906.1:c.220A>G, NM_001271904.1:c.220A>G, NP_057556.2:p.Asn74Asp, NP_001258834.1:p.Asn74Asp, NP_001258835.1:p.Asn74Asp, NP_001258833.1:p.Asn74Asp

Select item 135419227719.

rs1354192277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:96385569 (GRCh38)
14:96851906 (GRCh37)
Canonical SPDI:: NC_000014.9:96385568:C:A,NC_000014.9:96385568:C:T
Gene:: GSKIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.96385569C>A, NC_000014.9:g.96385569C>T, NC_000014.8:g.96851906C>A, NC_000014.8:g.96851906C>T, NM_016472.5:c.305C>A, NM_016472.5:c.305C>T, NM_016472.4:c.305C>A, NM_016472.4:c.305C>T, NM_001271905.2:c.305C>A, NM_001271905.2:c.305C>T, NM_001271905.1:c.305C>A, NM_001271905.1:c.305C>T, NM_001271906.2:c.305C>A, NM_001271906.2:c.305C>T, NM_001271906.1:c.305C>A, NM_001271906.1:c.305C>T, NM_001271904.1:c.305C>A, NM_001271904.1:c.305C>T, NP_057556.2:p.Pro102His, NP_057556.2:p.Pro102Leu, NP_001258834.1:p.Pro102His, NP_001258834.1:p.Pro102Leu, NP_001258835.1:p.Pro102His, NP_001258835.1:p.Pro102Leu, NP_001258833.1:p.Pro102His, NP_001258833.1:p.Pro102Leu

Select item 135208678520.

rs1352086785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:96382407 (GRCh38)
14:96848744 (GRCh37)
Canonical SPDI:: NC_000014.9:96382406:T:C
Gene:: GSKIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96382407T>C, NC_000014.8:g.96848744T>C, NM_016472.5:c.160T>C, NM_016472.4:c.160T>C, NM_001271905.2:c.160T>C, NM_001271905.1:c.160T>C, NM_001271906.2:c.160T>C, NM_001271906.1:c.160T>C, NM_001271904.1:c.160T>C, NP_057556.2:p.Ser54Pro, NP_001258834.1:p.Ser54Pro, NP_001258835.1:p.Ser54Pro, NP_001258833.1:p.Ser54Pro

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