SNP Links for Protein (Select 23510391) - SNP

Links from Protein

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Select item 14907668661.

rs1490766866 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:52152672 (GRCh38)
13:52726807 (GRCh37)
Canonical SPDI:: NC_000013.11:52152671:T:G
Gene:: NEK3 (Varview), LOC124903176 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.52152672T>G, NC_000013.10:g.52726807T>G, NM_152720.3:c.330A>C, NM_152720.2:c.330A>C, NM_002498.3:c.330A>C, NM_002498.2:c.330A>C, NR_164641.1:n.442A>C, NR_027415.1:n.706A>C, NR_027415.2:n.706A>C, NP_689933.1:p.Gln110His, NP_002489.1:p.Gln110His

Select item 14895466972.

rs1489546697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:52144733 (GRCh38)
13:52718868 (GRCh37)
Canonical SPDI:: NC_000013.11:52144732:T:G
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.52144733T>G, NC_000013.10:g.52718868T>G, NM_152720.3:c.762A>C, NM_152720.2:c.762A>C, NM_002498.3:c.762A>C, NM_002498.2:c.762A>C, NR_164641.1:n.874A>C, NR_027415.1:n.1138A>C, NR_027415.2:n.1138A>C

Select item 14891521073.

rs1489152107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:52153918 (GRCh38)
13:52728053 (GRCh37)
Canonical SPDI:: NC_000013.11:52153917:C:T
Gene:: NEK3 (Varview), LOC124903176 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52153918C>T, NC_000013.10:g.52728053C>T, NM_152720.3:c.286G>A, NM_152720.2:c.286G>A, NM_002498.3:c.286G>A, NM_002498.2:c.286G>A, NR_164641.1:n.398G>A, NR_027415.1:n.662G>A, NR_027415.2:n.662G>A, NP_689933.1:p.Gly96Arg, NP_002489.1:p.Gly96Arg

Select item 14876105364.

rs1487610536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:52144821 (GRCh38)
13:52718956 (GRCh37)
Canonical SPDI:: NC_000013.11:52144820:T:C
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.52144821T>C, NC_000013.10:g.52718956T>C, NM_152720.3:c.674A>G, NM_152720.2:c.674A>G, NM_002498.3:c.674A>G, NM_002498.2:c.674A>G, NR_164641.1:n.786A>G, NR_027415.1:n.1050A>G, NR_027415.2:n.1050A>G, NP_689933.1:p.His225Arg, NP_002489.1:p.His225Arg

Select item 14872947155.

rs1487294715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:52156183 (GRCh38)
13:52730318 (GRCh37)
Canonical SPDI:: NC_000013.11:52156182:G:A
Gene:: NEK3 (Varview), LOC124903176 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52156183G>A, NC_000013.10:g.52730318G>A, NM_152720.3:c.9C>T, NM_152720.2:c.9C>T, NM_002498.3:c.9C>T, NM_002498.2:c.9C>T, XR_007063806.1:n.1952G>A, NR_164641.1:n.121C>T, NR_027415.1:n.385C>T, NR_027415.2:n.385C>T

Select item 14845954266.

rs1484595426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:52151159 (GRCh38)
13:52725294 (GRCh37)
Canonical SPDI:: NC_000013.11:52151158:A:G
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.52151159A>G, NC_000013.10:g.52725294A>G, NM_152720.3:c.535T>C, NM_152720.2:c.535T>C, NM_002498.3:c.535T>C, NM_002498.2:c.535T>C, NR_164641.1:n.647T>C, NR_027415.1:n.911T>C, NR_027415.2:n.911T>C, NP_689933.1:p.Tyr179His, NP_002489.1:p.Tyr179His

Select item 14844720957.

rs1484472095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:52141035 (GRCh38)
13:52715171 (GRCh37)
Canonical SPDI:: NC_000013.11:52141034:A:C
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.52141035A>C, NC_000013.10:g.52715171A>C, NM_152720.3:c.912T>G, NM_152720.2:c.912T>G, NM_002498.3:c.912T>G, NM_002498.2:c.912T>G, NR_027415.1:n.1287T>G, NR_027415.2:n.1287T>G, NP_689933.1:p.Asn304Lys, NP_002489.1:p.Asn304Lys

Select item 14843511708.

rs1484351170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:52151212 (GRCh38)
13:52725347 (GRCh37)
Canonical SPDI:: NC_000013.11:52151211:G:A
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000013.11:g.52151212G>A, NC_000013.10:g.52725347G>A, NM_152720.3:c.482C>T, NM_152720.2:c.482C>T, NM_002498.3:c.482C>T, NM_002498.2:c.482C>T, NR_164641.1:n.594C>T, NR_027415.1:n.858C>T, NR_027415.2:n.858C>T, NP_689933.1:p.Thr161Ile, NP_002489.1:p.Thr161Ile

Select item 14843144609.

rs1484314460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:52154158 (GRCh38)
13:52728293 (GRCh37)
Canonical SPDI:: NC_000013.11:52154157:G:A,NC_000013.11:52154157:G:T
Gene:: NEK3 (Varview), LOC124903176 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000013.11:g.52154158G>A, NC_000013.11:g.52154158G>T, NC_000013.10:g.52728293G>A, NC_000013.10:g.52728293G>T, NM_152720.3:c.133C>T, NM_152720.3:c.133C>A, NM_152720.2:c.133C>T, NM_152720.2:c.133C>A, NM_002498.3:c.133C>T, NM_002498.3:c.133C>A, NM_002498.2:c.133C>T, NM_002498.2:c.133C>A, NR_164641.1:n.245C>T, NR_164641.1:n.245C>A, NR_027415.1:n.509C>T, NR_027415.1:n.509C>A, NR_027415.2:n.509C>T, NR_027415.2:n.509C>A, NP_689933.1:p.Gln45Ter, NP_689933.1:p.Gln45Lys, NP_002489.1:p.Gln45Ter, NP_002489.1:p.Gln45Lys

Select item 148423499110.

rs1484234991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:52133178 (GRCh38)
13:52707314 (GRCh37)
Canonical SPDI:: NC_000013.11:52133177:C:T
Gene:: NEK3 (Varview), LOC101929657 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.52133178C>T, NC_000013.10:g.52707314C>T, NM_152720.3:c.1485G>A, NM_152720.2:c.1485G>A, NM_002498.3:c.1485G>A, NM_002498.2:c.1485G>A, NR_164641.1:n.1547G>A, NR_027415.1:n.1860G>A, NR_027415.2:n.1860G>A

Select item 148336907211.

rs1483369072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:52144888 (GRCh38)
13:52719023 (GRCh37)
Canonical SPDI:: NC_000013.11:52144887:G:C
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52144888G>C, NC_000013.10:g.52719023G>C, NM_152720.3:c.607C>G, NM_152720.2:c.607C>G, NM_002498.3:c.607C>G, NM_002498.2:c.607C>G, NR_164641.1:n.719C>G, NR_027415.1:n.983C>G, NR_027415.2:n.983C>G, NP_689933.1:p.Gln203Glu, NP_002489.1:p.Gln203Glu

Select item 148280635212.

rs1482806352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:52144884 (GRCh38)
13:52719019 (GRCh37)
Canonical SPDI:: NC_000013.11:52144883:G:A,NC_000013.11:52144883:G:C,NC_000013.11:52144883:G:T
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.52144884G>A, NC_000013.11:g.52144884G>C, NC_000013.11:g.52144884G>T, NC_000013.10:g.52719019G>A, NC_000013.10:g.52719019G>C, NC_000013.10:g.52719019G>T, NM_152720.3:c.611C>T, NM_152720.3:c.611C>G, NM_152720.3:c.611C>A, NM_152720.2:c.611C>T, NM_152720.2:c.611C>G, NM_152720.2:c.611C>A, NM_002498.3:c.611C>T, NM_002498.3:c.611C>G, NM_002498.3:c.611C>A, NM_002498.2:c.611C>T, NM_002498.2:c.611C>G, NM_002498.2:c.611C>A, NR_164641.1:n.723C>T, NR_164641.1:n.723C>G, NR_164641.1:n.723C>A, NR_027415.1:n.987C>T, NR_027415.1:n.987C>G, NR_027415.1:n.987C>A, NR_027415.2:n.987C>T, NR_027415.2:n.987C>G, NR_027415.2:n.987C>A, NP_689933.1:p.Ala204Val, NP_689933.1:p.Ala204Gly, NP_689933.1:p.Ala204Glu, NP_002489.1:p.Ala204Val, NP_002489.1:p.Ala204Gly, NP_002489.1:p.Ala204Glu

Select item 148228311113.

rs1482283111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:52136868 (GRCh38)
13:52711004 (GRCh37)
Canonical SPDI:: NC_000013.11:52136867:G:A,NC_000013.11:52136867:G:C
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.52136868G>A, NC_000013.11:g.52136868G>C, NC_000013.10:g.52711004G>A, NC_000013.10:g.52711004G>C, NM_152720.3:c.962C>T, NM_152720.3:c.962C>G, NM_152720.2:c.962C>T, NM_152720.2:c.962C>G, NM_002498.3:c.962C>T, NM_002498.3:c.962C>G, NM_002498.2:c.962C>T, NM_002498.2:c.962C>G, NR_164641.1:n.1024C>T, NR_164641.1:n.1024C>G, NR_027415.1:n.1337C>T, NR_027415.1:n.1337C>G, NR_027415.2:n.1337C>T, NR_027415.2:n.1337C>G, NP_689933.1:p.Thr321Ile, NP_689933.1:p.Thr321Ser, NP_002489.1:p.Thr321Ile, NP_002489.1:p.Thr321Ser

Select item 148141187414.

rs1481411874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:52136893 (GRCh38)
13:52711029 (GRCh37)
Canonical SPDI:: NC_000013.11:52136892:C:G,NC_000013.11:52136892:C:T
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.52136893C>G, NC_000013.11:g.52136893C>T, NC_000013.10:g.52711029C>G, NC_000013.10:g.52711029C>T, NM_152720.3:c.937G>C, NM_152720.3:c.937G>A, NM_152720.2:c.937G>C, NM_152720.2:c.937G>A, NM_002498.3:c.937G>C, NM_002498.3:c.937G>A, NM_002498.2:c.937G>C, NM_002498.2:c.937G>A, NR_164641.1:n.999G>C, NR_164641.1:n.999G>A, NR_027415.1:n.1312G>C, NR_027415.1:n.1312G>A, NR_027415.2:n.1312G>C, NR_027415.2:n.1312G>A, NP_689933.1:p.Glu313Gln, NP_689933.1:p.Glu313Lys, NP_002489.1:p.Glu313Gln, NP_002489.1:p.Glu313Lys

Select item 148006282015.

rs1480062820 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCGATG>- [Show Flanks]
Chromosome:: 13:52133764 (GRCh38)
13:52707900 (GRCh37)
Canonical SPDI:: NC_000013.11:52133761:TGTCCGATG:TG
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.52133764_52133770del, NC_000013.10:g.52707900_52707906del, NM_152720.3:c.1357_1363del, NM_152720.2:c.1357_1363del, NM_002498.3:c.1357_1363del, NM_002498.2:c.1357_1363del, NR_164641.1:n.1419_1425del, NR_027415.1:n.1732_1738del, NR_027415.2:n.1732_1738del, NP_689933.1:p.Ser453fs, NP_002489.1:p.Ser453fs

Select item 147480285916.

rs1474802859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:52133792 (GRCh38)
13:52707928 (GRCh37)
Canonical SPDI:: NC_000013.11:52133791:G:A
Gene:: NEK3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000013.11:g.52133792G>A, NC_000013.10:g.52707928G>A, NM_152720.3:c.1333C>T, NM_152720.2:c.1333C>T, NM_002498.3:c.1333C>T, NM_002498.2:c.1333C>T, NR_164641.1:n.1395C>T, NR_027415.1:n.1708C>T, NR_027415.2:n.1708C>T, NP_689933.1:p.Pro445Ser, NP_002489.1:p.Pro445Ser

Select item 147287268417.

rs1472872684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:52144833 (GRCh38)
13:52718968 (GRCh37)
Canonical SPDI:: NC_000013.11:52144832:G:C
Gene:: NEK3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.52144833G>C, NC_000013.10:g.52718968G>C, NM_152720.3:c.662C>G, NM_152720.2:c.662C>G, NM_002498.3:c.662C>G, NM_002498.2:c.662C>G, NR_164641.1:n.774C>G, NR_027415.1:n.1038C>G, NR_027415.2:n.1038C>G, NP_689933.1:p.Pro221Arg, NP_002489.1:p.Pro221Arg

Select item 147067104018.

rs1470671040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:52136806 (GRCh38)
13:52710942 (GRCh37)
Canonical SPDI:: NC_000013.11:52136805:C:T
Gene:: NEK3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.52136806C>T, NC_000013.10:g.52710942C>T, NM_152720.3:c.1024G>A, NM_152720.2:c.1024G>A, NM_002498.3:c.1024G>A, NM_002498.2:c.1024G>A, NR_164641.1:n.1086G>A, NR_027415.1:n.1399G>A, NR_027415.2:n.1399G>A, NP_689933.1:p.Glu342Lys, NP_002489.1:p.Glu342Lys

Select item 146884039119.

rs1468840391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:52154168 (GRCh38)
13:52728303 (GRCh37)
Canonical SPDI:: NC_000013.11:52154167:G:A
Gene:: NEK3 (Varview), LOC124903176 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_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_000013.11:g.52154168G>A, NC_000013.10:g.52728303G>A, NM_152720.3:c.123C>T, NM_152720.2:c.123C>T, NM_002498.3:c.123C>T, NM_002498.2:c.123C>T, NR_164641.1:n.235C>T, NR_027415.1:n.499C>T, NR_027415.2:n.499C>T

Select item 146824547420.

rs1468245474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:52156123 (GRCh38)
13:52730258 (GRCh37)
Canonical SPDI:: NC_000013.11:52156122:A:C
Gene:: NEK3 (Varview), LOC124903176 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52156123A>C, NC_000013.10:g.52730258A>C, NM_152720.3:c.69T>G, NM_152720.2:c.69T>G, NM_002498.3:c.69T>G, NM_002498.2:c.69T>G, XR_007063806.1:n.1892A>C, NR_164641.1:n.181T>G, NR_027415.1:n.445T>G, NR_027415.2:n.445T>G, NP_689933.1:p.His23Gln, NP_002489.1:p.His23Gln

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