SNP Links for Protein (Select 282847490) - SNP

Links from Protein

Items: 1 to 20 of 412

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Select item 14875355631.

rs1487535563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153782822 (GRCh38)
X:153048277 (GRCh37)
Canonical SPDI:: NC_000023.11:153782821:A:G
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153782822A>G, NC_000023.10:g.153048277A>G, NG_016329.1:g.6822A>G, NM_014370.4:c.526A>G, NM_014370.3:c.526A>G, NM_001170760.2:c.526A>G, NM_001170760.1:c.526A>G, NM_001170761.2:c.526A>G, NM_001170761.1:c.526A>G, NW_003871103.3:g.1216805A>G, XR_007068355.1:n.1034T>C, NP_055185.2:p.Ile176Val, NP_001164231.1:p.Ile176Val, NP_001164232.1:p.Ile176Val

Select item 14866225482.

rs1486622548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:153781268 (GRCh38)
X:153046723 (GRCh37)
Canonical SPDI:: NC_000023.11:153781267:A:C
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153781268A>C, NC_000023.10:g.153046723A>C, NG_013255.2:g.22021A>C, NG_013255.1:g.22073A>C, NG_016329.1:g.5268A>C, NM_014370.4:c.112A>C, NM_014370.3:c.112A>C, NM_001170760.2:c.112A>C, NM_001170760.1:c.112A>C, NM_001170761.2:c.112A>C, NM_001170761.1:c.112A>C, NW_003871103.3:g.1215251A>C, XR_007068355.1:n.2588T>G, NP_055185.2:p.Thr38Pro, NP_001164231.1:p.Thr38Pro, NP_001164232.1:p.Thr38Pro

Select item 14808442643.

rs1480844264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153784202 (GRCh38)
X:153049657 (GRCh37)
Canonical SPDI:: NC_000023.11:153784201:T:C
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153784202T>C, NC_000023.10:g.153049657T>C, NG_016329.1:g.8202T>C, NM_014370.4:c.1136T>C, NM_014370.3:c.1136T>C, NM_001170760.2:c.1133T>C, NM_001170760.1:c.1133T>C, NM_001170761.2:c.1034T>C, NM_001170761.1:c.1034T>C, NW_003871103.3:g.1218185T>C, XR_007068355.1:n.6A>G, NP_055185.2:p.Leu379Pro, NP_001164231.1:p.Leu378Pro, NP_001164232.1:p.Leu345Pro

Select item 14798047434.

rs1479804743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153784191 (GRCh38)
X:153049646 (GRCh37)
Canonical SPDI:: NC_000023.11:153784190:C:T
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000135/2 (TOMMO)
HGVS:: NC_000023.11:g.153784191C>T, NC_000023.10:g.153049646C>T, NG_016329.1:g.8191C>T, NM_014370.4:c.1125C>T, NM_014370.3:c.1125C>T, NM_001170760.2:c.1122C>T, NM_001170760.1:c.1122C>T, NM_001170761.2:c.1023C>T, NM_001170761.1:c.1023C>T, NW_003871103.3:g.1218174C>T, XR_007068355.1:n.17G>A

Select item 14736395995.

rs1473639599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153784329 (GRCh38)
X:153049784 (GRCh37)
Canonical SPDI:: NC_000023.11:153784328:C:T
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153784329C>T, NC_000023.10:g.153049784C>T, NG_016329.1:g.8329C>T, NM_014370.4:c.1183C>T, NM_014370.3:c.1183C>T, NM_001170760.2:c.1180C>T, NM_001170760.1:c.1180C>T, NM_001170761.2:c.1081C>T, NM_001170761.1:c.1081C>T, NW_003871103.3:g.1218312C>T

Select item 14722918126.

rs1472291812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153783040 (GRCh38)
X:153048495 (GRCh37)
Canonical SPDI:: NC_000023.11:153783039:G:A
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153783040G>A, NC_000023.10:g.153048495G>A, NG_016329.1:g.7040G>A, NM_014370.4:c.670G>A, NM_014370.3:c.670G>A, NM_001170760.2:c.670G>A, NM_001170760.1:c.670G>A, NM_001170761.2:c.670G>A, NM_001170761.1:c.670G>A, NW_003871103.3:g.1217023G>A, XR_007068355.1:n.816C>T, NP_055185.2:p.Asp224Asn, NP_001164231.1:p.Asp224Asn, NP_001164232.1:p.Asp224Asn

Select item 14710309067.

rs1471030906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153784790 (GRCh38)
X:153050245 (GRCh37)
Canonical SPDI:: NC_000023.11:153784789:G:A
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153784790G>A, NC_000023.10:g.153050245G>A, NG_016329.1:g.8790G>A, NM_014370.4:c.1289G>A, NM_014370.3:c.1289G>A, NM_001170760.2:c.1286G>A, NM_001170760.1:c.1286G>A, NM_001170761.2:c.1187G>A, NM_001170761.1:c.1187G>A, NW_003871103.3:g.1218773G>A, NP_055185.2:p.Arg430Gln, NP_001164231.1:p.Arg429Gln, NP_001164232.1:p.Arg396Gln

Select item 14677174588.

rs1467717458 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: X:153783786 (GRCh38)
X:153049241 (GRCh37)
Canonical SPDI:: NC_000023.11:153783780:GAAGAAGA:GAAGA
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGA=0.000142/2 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153783783AGA[1], NC_000023.10:g.153049238AGA[1], NG_016329.1:g.7783AGA[1], NM_014370.4:c.806AGA[1], NM_014370.3:c.806AGA[1], NM_001170760.2:c.803AGA[1], NM_001170760.1:c.803AGA[1], NM_001170761.2:c.803AGA[1], NM_001170761.1:c.803AGA[1], NW_003871103.3:g.1217766AGA[1], NP_055185.2:p.Lys270del, NP_001164231.1:p.Lys269del, NP_001164232.1:p.Lys269del

Select item 14626946729.

rs1462694672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:153781613 (GRCh38)
X:153047068 (GRCh37)
Canonical SPDI:: NC_000023.11:153781612:A:C
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.153781613A>C, NC_000023.10:g.153047068A>C, NG_016329.1:g.5613A>C, NM_014370.4:c.299A>C, NM_014370.3:c.299A>C, NM_001170760.2:c.299A>C, NM_001170760.1:c.299A>C, NM_001170761.2:c.299A>C, NM_001170761.1:c.299A>C, NW_003871103.3:g.1215596A>C, XR_007068355.1:n.2243T>G, NP_055185.2:p.Gln100Pro, NP_001164231.1:p.Gln100Pro, NP_001164232.1:p.Gln100Pro

Select item 145684056410.

rs1456840564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153783098 (GRCh38)
X:153048553 (GRCh37)
Canonical SPDI:: NC_000023.11:153783097:C:T
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.153783098C>T, NC_000023.10:g.153048553C>T, NG_016329.1:g.7098C>T, NM_014370.4:c.728C>T, NM_014370.3:c.728C>T, NM_001170760.2:c.728C>T, NM_001170760.1:c.728C>T, NM_001170761.2:c.728C>T, NM_001170761.1:c.728C>T, NW_003871103.3:g.1217081C>T, XR_007068355.1:n.758G>A, NP_055185.2:p.Pro243Leu, NP_001164231.1:p.Pro243Leu, NP_001164232.1:p.Pro243Leu

Select item 144340802511.

rs1443408025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153783050 (GRCh38)
X:153048505 (GRCh37)
Canonical SPDI:: NC_000023.11:153783049:T:C
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153783050T>C, NC_000023.10:g.153048505T>C, NG_016329.1:g.7050T>C, NM_014370.4:c.680T>C, NM_014370.3:c.680T>C, NM_001170760.2:c.680T>C, NM_001170760.1:c.680T>C, NM_001170761.2:c.680T>C, NM_001170761.1:c.680T>C, NW_003871103.3:g.1217033T>C, XR_007068355.1:n.806A>G, NP_055185.2:p.Ile227Thr, NP_001164231.1:p.Ile227Thr, NP_001164232.1:p.Ile227Thr

Select item 143269321512.

rs1432693215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153782177 (GRCh38)
X:153047632 (GRCh37)
Canonical SPDI:: NC_000023.11:153782176:T:C
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.153782177T>C, NC_000023.10:g.153047632T>C, NG_016329.1:g.6177T>C, NM_014370.4:c.444T>C, NM_014370.3:c.444T>C, NM_001170760.2:c.444T>C, NM_001170760.1:c.444T>C, NM_001170761.2:c.444T>C, NM_001170761.1:c.444T>C, NW_003871103.3:g.1216160T>C, XR_007068355.1:n.1679A>G

Select item 142651629713.

rs1426516297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:153784317 (GRCh38)
X:153049772 (GRCh37)
Canonical SPDI:: NC_000023.11:153784316:C:A
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153784317C>A, NC_000023.10:g.153049772C>A, NG_016329.1:g.8317C>A, NM_014370.4:c.1171C>A, NM_014370.3:c.1171C>A, NM_001170760.2:c.1168C>A, NM_001170760.1:c.1168C>A, NM_001170761.2:c.1069C>A, NM_001170761.1:c.1069C>A, NW_003871103.3:g.1218300C>A, NP_055185.2:p.Leu391Met, NP_001164231.1:p.Leu390Met, NP_001164232.1:p.Leu357Met

Select item 142628471214.

rs1426284712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153785520 (GRCh38)
X:153050975 (GRCh37)
Canonical SPDI:: NC_000023.11:153785519:G:C
Gene:: IDH3G (Varview), SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: stop_lost,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,terminator_codon_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.153785520G>C, NC_000023.10:g.153050975G>C, NG_016329.1:g.9520G>C, NM_014370.4:c.1704G>C, NM_014370.3:c.1704G>C, NM_001170760.2:c.1701G>C, NM_001170760.1:c.1701G>C, NM_001170761.2:c.1602G>C, NM_001170761.1:c.1602G>C, NW_003871103.3:g.1219503G>C, NP_055185.2:p.Ter568Tyr, NP_001164231.1:p.Ter567Tyr, NP_001164232.1:p.Ter534Tyr

Select item 141125778815.

rs1411257788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:153785121 (GRCh38)
X:153050576 (GRCh37)
Canonical SPDI:: NC_000023.11:153785120:C:G
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153785121C>G, NC_000023.10:g.153050576C>G, NG_016329.1:g.9121C>G, NM_014370.4:c.1467C>G, NM_014370.3:c.1467C>G, NM_001170760.2:c.1464C>G, NM_001170760.1:c.1464C>G, NM_001170761.2:c.1365C>G, NM_001170761.1:c.1365C>G, NW_003871103.3:g.1219104C>G

Select item 140916446616.

rs1409164466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153783002 (GRCh38)
X:153048457 (GRCh37)
Canonical SPDI:: NC_000023.11:153783001:C:T
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000135/2 (TOMMO)
HGVS:: NC_000023.11:g.153783002C>T, NC_000023.10:g.153048457C>T, NG_016329.1:g.7002C>T, NM_014370.4:c.632C>T, NM_014370.3:c.632C>T, NM_001170760.2:c.632C>T, NM_001170760.1:c.632C>T, NM_001170761.2:c.632C>T, NM_001170761.1:c.632C>T, NW_003871103.3:g.1216985C>T, XR_007068355.1:n.854G>A, NP_055185.2:p.Thr211Met, NP_001164231.1:p.Thr211Met, NP_001164232.1:p.Thr211Met

Select item 140599695817.

rs1405996958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153785089 (GRCh38)
X:153050544 (GRCh37)
Canonical SPDI:: NC_000023.11:153785088:G:A
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153785089G>A, NC_000023.10:g.153050544G>A, NG_016329.1:g.9089G>A, NM_014370.4:c.1435G>A, NM_014370.3:c.1435G>A, NM_001170760.2:c.1432G>A, NM_001170760.1:c.1432G>A, NM_001170761.2:c.1333G>A, NM_001170761.1:c.1333G>A, NW_003871103.3:g.1219072G>A, NP_055185.2:p.Ala479Thr, NP_001164231.1:p.Ala478Thr, NP_001164232.1:p.Ala445Thr

Select item 140586778418.

rs1405867784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153783100 (GRCh38)
X:153048555 (GRCh37)
Canonical SPDI:: NC_000023.11:153783099:C:T
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153783100C>T, NC_000023.10:g.153048555C>T, NG_016329.1:g.7100C>T, NM_014370.4:c.730C>T, NM_014370.3:c.730C>T, NM_001170760.2:c.730C>T, NM_001170760.1:c.730C>T, NM_001170761.2:c.730C>T, NM_001170761.1:c.730C>T, NW_003871103.3:g.1217083C>T, XR_007068355.1:n.756G>A, NP_055185.2:p.Pro244Ser, NP_001164231.1:p.Pro244Ser, NP_001164232.1:p.Pro244Ser

Select item 139802979119.

rs1398029791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153781746 (GRCh38)
X:153047201 (GRCh37)
Canonical SPDI:: NC_000023.11:153781745:C:T
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153781746C>T, NC_000023.10:g.153047201C>T, NG_016329.1:g.5746C>T, NM_014370.4:c.303C>T, NM_014370.3:c.303C>T, NM_001170760.2:c.303C>T, NM_001170760.1:c.303C>T, NM_001170761.2:c.303C>T, NM_001170761.1:c.303C>T, NW_003871103.3:g.1215729C>T, XR_007068355.1:n.2110G>A

Select item 139609049220.

rs1396090492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153784785 (GRCh38)
X:153050240 (GRCh37)
Canonical SPDI:: NC_000023.11:153784784:G:A
Gene:: SRPK3 (Varview), LOC124905227 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153784785G>A, NC_000023.10:g.153050240G>A, NG_016329.1:g.8785G>A, NM_014370.4:c.1284G>A, NM_014370.3:c.1284G>A, NM_001170760.2:c.1281G>A, NM_001170760.1:c.1281G>A, NM_001170761.2:c.1182G>A, NM_001170761.1:c.1182G>A, NW_003871103.3:g.1218768G>A

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