SNP Links for Protein (Select 5031833) - SNP

Links from Protein

Items: 1 to 20 of 358

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Select item 14896940241.

rs1489694024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:75598541 (GRCh38)
15:75890882 (GRCh37)
Canonical SPDI:: NC_000015.10:75598540:G:C
Gene:: SNUPN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75598541G>C, NC_000015.9:g.75890882G>C, NM_005701.4:c.900C>G, NM_005701.3:c.900C>G, NM_001042581.2:c.900C>G, NM_001042581.1:c.900C>G, NM_001042588.2:c.900C>G, NM_001042588.1:c.900C>G, NP_005692.1:p.Asp300Glu, NP_001036046.1:p.Asp300Glu, NP_001036053.1:p.Asp300Glu

Select item 14895595732.

rs1489559573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75609925 (GRCh38)
15:75902266 (GRCh37)
Canonical SPDI:: NC_000015.10:75609924:G:A
Gene:: SNUPN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.75609925G>A, NC_000015.9:g.75902266G>A, NM_005701.4:c.373C>T, NM_005701.3:c.373C>T, NM_001042581.2:c.373C>T, NM_001042581.1:c.373C>T, NM_001042588.2:c.373C>T, NM_001042588.1:c.373C>T, NP_005692.1:p.Pro125Ser, NP_001036046.1:p.Pro125Ser, NP_001036053.1:p.Pro125Ser

Select item 14877286433.

rs1487728643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75607304 (GRCh38)
15:75899645 (GRCh37)
Canonical SPDI:: NC_000015.10:75607303:A:G
Gene:: SNUPN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75607304A>G, NC_000015.9:g.75899645A>G, NM_005701.4:c.512T>C, NM_005701.3:c.512T>C, NM_001042581.2:c.512T>C, NM_001042581.1:c.512T>C, NM_001042588.2:c.512T>C, NM_001042588.1:c.512T>C, NP_005692.1:p.Ile171Thr, NP_001036046.1:p.Ile171Thr, NP_001036053.1:p.Ile171Thr

Select item 14869409234.

rs1486940923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:75609956 (GRCh38)
15:75902297 (GRCh37)
Canonical SPDI:: NC_000015.10:75609955:A:T
Gene:: SNUPN (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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75609956A>T, NC_000015.9:g.75902297A>T, NM_005701.4:c.342T>A, NM_005701.3:c.342T>A, NM_001042581.2:c.342T>A, NM_001042581.1:c.342T>A, NM_001042588.2:c.342T>A, NM_001042588.1:c.342T>A, NP_005692.1:p.Asp114Glu, NP_001036046.1:p.Asp114Glu, NP_001036053.1:p.Asp114Glu

Select item 14842230795.

rs1484223079 has merged into rs970612138 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTAACCTCC>-,AGTAACCTCCAGTAACCTCC [Show Flanks]
Chromosome:: 15:75620909 (GRCh38)
15:75913250 (GRCh37)
Canonical SPDI:: NC_000015.10:75620905:TCCAGTAACCTCC:TCC,NC_000015.10:75620905:TCCAGTAACCTCC:TCCAGTAACCTCCAGTAACCTCC
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.75620909_75620918del, NC_000015.10:g.75620909_75620918dup, NC_000015.9:g.75913250_75913259del, NC_000015.9:g.75913250_75913259dup, NM_005701.4:c.137_146del, NM_005701.4:c.137_146dup, NM_005701.3:c.137_146del, NM_005701.3:c.137_146dup, NM_001042581.2:c.137_146del, NM_001042581.2:c.137_146dup, NM_001042581.1:c.137_146del, NM_001042581.1:c.137_146dup, NM_001042588.2:c.137_146del, NM_001042588.2:c.137_146dup, NM_001042588.1:c.137_146del, NM_001042588.1:c.137_146dup, NP_005692.1:p.Arg46fs, NP_005692.1:p.Leu50fs, NP_001036046.1:p.Arg46fs, NP_001036046.1:p.Leu50fs, NP_001036053.1:p.Arg46fs, NP_001036053.1:p.Leu50fs

Select item 14815203666.

rs1481520366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:75598606 (GRCh38)
15:75890947 (GRCh37)
Canonical SPDI:: NC_000015.10:75598605:G:C,NC_000015.10:75598605:G:T
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75598606G>C, NC_000015.10:g.75598606G>T, NC_000015.9:g.75890947G>C, NC_000015.9:g.75890947G>T, NM_005701.4:c.835C>G, NM_005701.4:c.835C>A, NM_005701.3:c.835C>G, NM_005701.3:c.835C>A, NM_001042581.2:c.835C>G, NM_001042581.2:c.835C>A, NM_001042581.1:c.835C>G, NM_001042581.1:c.835C>A, NM_001042588.2:c.835C>G, NM_001042588.2:c.835C>A, NM_001042588.1:c.835C>G, NM_001042588.1:c.835C>A, NP_005692.1:p.Pro279Ala, NP_005692.1:p.Pro279Thr, NP_001036046.1:p.Pro279Ala, NP_001036046.1:p.Pro279Thr, NP_001036053.1:p.Pro279Ala, NP_001036053.1:p.Pro279Thr

Select item 14809926857.

rs1480992685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75601164 (GRCh38)
15:75893505 (GRCh37)
Canonical SPDI:: NC_000015.10:75601163:C:T
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75601164C>T, NC_000015.9:g.75893505C>T, NM_005701.4:c.733G>A, NM_005701.3:c.733G>A, NM_001042581.2:c.733G>A, NM_001042581.1:c.733G>A, NM_001042588.2:c.733G>A, NM_001042588.1:c.733G>A, NP_005692.1:p.Val245Met, NP_001036046.1:p.Val245Met, NP_001036053.1:p.Val245Met

Select item 14773641418.

rs1477364141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:75620912 (GRCh38)
15:75913253 (GRCh37)
Canonical SPDI:: NC_000015.10:75620911:A:T
Gene:: SNUPN (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75620912A>T, NC_000015.9:g.75913253A>T, NM_005701.4:c.140T>A, NM_005701.3:c.140T>A, NM_001042581.2:c.140T>A, NM_001042581.1:c.140T>A, NM_001042588.2:c.140T>A, NM_001042588.1:c.140T>A, NP_005692.1:p.Leu47Ter, NP_001036046.1:p.Leu47Ter, NP_001036053.1:p.Leu47Ter

Select item 14765241119.

rs1476524111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75617465 (GRCh38)
15:75909806 (GRCh37)
Canonical SPDI:: NC_000015.10:75617464:A:G
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75617465A>G, NC_000015.9:g.75909806A>G, NM_005701.4:c.246T>C, NM_005701.3:c.246T>C, NM_001042581.2:c.246T>C, NM_001042581.1:c.246T>C, NM_001042588.2:c.246T>C, NM_001042588.1:c.246T>C

Select item 147145391610.

rs1471453916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75598582 (GRCh38)
15:75890923 (GRCh37)
Canonical SPDI:: NC_000015.10:75598581:C:T
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.75598582C>T, NC_000015.9:g.75890923C>T, NM_005701.4:c.859G>A, NM_005701.3:c.859G>A, NM_001042581.2:c.859G>A, NM_001042581.1:c.859G>A, NM_001042588.2:c.859G>A, NM_001042588.1:c.859G>A, NP_005692.1:p.Gly287Ser, NP_001036046.1:p.Gly287Ser, NP_001036053.1:p.Gly287Ser

Select item 146810884711.

rs1468108847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:75607256 (GRCh38)
15:75899597 (GRCh37)
Canonical SPDI:: NC_000015.10:75607255:T:A
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75607256T>A, NC_000015.9:g.75899597T>A, NM_005701.4:c.560A>T, NM_005701.3:c.560A>T, NM_001042581.2:c.560A>T, NM_001042581.1:c.560A>T, NM_001042588.2:c.560A>T, NM_001042588.1:c.560A>T, NP_005692.1:p.Asp187Val, NP_001036046.1:p.Asp187Val, NP_001036053.1:p.Asp187Val

Select item 146614624112.

rs1466146241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:75620931 (GRCh38)
15:75913272 (GRCh37)
Canonical SPDI:: NC_000015.10:75620930:T:A
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.75620931T>A, NC_000015.9:g.75913272T>A, NM_005701.4:c.121A>T, NM_005701.3:c.121A>T, NM_001042581.2:c.121A>T, NM_001042581.1:c.121A>T, NM_001042588.2:c.121A>T, NM_001042588.1:c.121A>T, NP_005692.1:p.Ser41Cys, NP_001036046.1:p.Ser41Cys, NP_001036053.1:p.Ser41Cys

Select item 146494466013.

rs1464944660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:75609607 (GRCh38)
15:75901948 (GRCh37)
Canonical SPDI:: NC_000015.10:75609606:C:A
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75609607C>A, NC_000015.9:g.75901948C>A, NM_005701.4:c.453G>T, NM_005701.3:c.453G>T, NM_001042581.2:c.453G>T, NM_001042581.1:c.453G>T, NM_001042588.2:c.453G>T, NM_001042588.1:c.453G>T, NP_005692.1:p.Arg151Ser, NP_001036046.1:p.Arg151Ser, NP_001036053.1:p.Arg151Ser

Select item 146305407914.

rs1463054079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75598385 (GRCh38)
15:75890726 (GRCh37)
Canonical SPDI:: NC_000015.10:75598384:G:A
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75598385G>A, NC_000015.9:g.75890726G>A, NM_005701.4:c.1056C>T, NM_005701.3:c.1056C>T, NM_001042581.2:c.1056C>T, NM_001042581.1:c.1056C>T, NM_001042588.2:c.1056C>T, NM_001042588.1:c.1056C>T

Select item 145829998415.

rs1458299984 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGG [Show Flanks]
Chromosome:: 15:75621047 (GRCh38)
15:75913389 (GRCh37)
Canonical SPDI:: NC_000015.10:75621047::AGG
Gene:: SNUPN (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: AGG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75621047_75621048insAGG, NC_000015.9:g.75913388_75913389insAGG, NM_005701.4:c.4_5insCCT, NM_005701.3:c.4_5insCCT, NM_001042581.2:c.4_5insCCT, NM_001042581.1:c.4_5insCCT, NM_001042588.2:c.4_5insCCT, NM_001042588.1:c.4_5insCCT, NP_005692.1:p.Glu2delinsAlaTer, NP_001036046.1:p.Glu2delinsAlaTer, NP_001036053.1:p.Glu2delinsAlaTer

Select item 145801504216.

rs1458015042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75605174 (GRCh38)
15:75897515 (GRCh37)
Canonical SPDI:: NC_000015.10:75605173:C:T
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.75605174C>T, NC_000015.9:g.75897515C>T, NM_005701.4:c.654G>A, NM_005701.3:c.654G>A, NM_001042581.2:c.654G>A, NM_001042581.1:c.654G>A, NM_001042588.2:c.654G>A, NM_001042588.1:c.654G>A

Select item 145739901117.

rs1457399011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75609644 (GRCh38)
15:75901985 (GRCh37)
Canonical SPDI:: NC_000015.10:75609643:G:A
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75609644G>A, NC_000015.9:g.75901985G>A, NM_005701.4:c.416C>T, NM_005701.3:c.416C>T, NM_001042581.2:c.416C>T, NM_001042581.1:c.416C>T, NM_001042588.2:c.416C>T, NM_001042588.1:c.416C>T, NP_005692.1:p.Thr139Ile, NP_001036046.1:p.Thr139Ile, NP_001036053.1:p.Thr139Ile

Select item 145131331018.

rs1451313310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:75617494 (GRCh38)
15:75909835 (GRCh37)
Canonical SPDI:: NC_000015.10:75617493:T:C
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.002729/5 (Korea1K)
HGVS:: NC_000015.10:g.75617494T>C, NC_000015.9:g.75909835T>C, NM_005701.4:c.217A>G, NM_005701.3:c.217A>G, NM_001042581.2:c.217A>G, NM_001042581.1:c.217A>G, NM_001042588.2:c.217A>G, NM_001042588.1:c.217A>G, NP_005692.1:p.Met73Val, NP_001036046.1:p.Met73Val, NP_001036053.1:p.Met73Val

Select item 144694420219.

rs1446944202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:75607297 (GRCh38)
15:75899638 (GRCh37)
Canonical SPDI:: NC_000015.10:75607296:A:G
Gene:: SNUPN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000015.10:g.75607297A>G, NC_000015.9:g.75899638A>G, NM_005701.4:c.519T>C, NM_005701.3:c.519T>C, NM_001042581.2:c.519T>C, NM_001042581.1:c.519T>C, NM_001042588.2:c.519T>C, NM_001042588.1:c.519T>C

Select item 144606726120.

rs1446067261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:75598485 (GRCh38)
15:75890826 (GRCh37)
Canonical SPDI:: NC_000015.10:75598484:C:A
Gene:: SNUPN (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75598485C>A, NC_000015.9:g.75890826C>A, NM_005701.4:c.956G>T, NM_005701.3:c.956G>T, NM_001042581.2:c.956G>T, NM_001042581.1:c.956G>T, NM_001042588.2:c.956G>T, NM_001042588.1:c.956G>T, NP_005692.1:p.Gly319Val, NP_001036046.1:p.Gly319Val, NP_001036053.1:p.Gly319Val

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