SNP Links for Protein (Select 768015862) - SNP

Links from Protein

Items: 1 to 20 of 225

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Select item 14741284571.

rs1474128457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:34560914 (GRCh38)
20:33148718 (GRCh37)
Canonical SPDI:: NC_000020.11:34560913:G:C
Gene:: PIGU (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34560914G>C, NC_000020.10:g.33148718G>C, NG_011497.1:g.121372C>G, NM_080476.5:c.1260C>G, NM_080476.4:c.1260C>G, XM_017027664.2:c.1116C>G, XM_017027664.1:c.1116C>G, XM_011528542.2:c.612C>G, XM_011528542.1:c.612C>G

Select item 14718853112.

rs1471885311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:34585542 (GRCh38)
20:33173346 (GRCh37)
Canonical SPDI:: NC_000020.11:34585541:A:T
Gene:: PIGU (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34585542A>T, NC_000020.10:g.33173346A>T, NG_011497.1:g.96744T>A, NM_080476.5:c.821T>A, NM_080476.4:c.821T>A, XM_011528542.2:c.173T>A, XM_011528542.1:c.173T>A, NP_536724.1:p.Phe274Tyr, XP_011526844.1:p.Phe58Tyr

Select item 14709900313.

rs1470990031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34575133 (GRCh38)
20:33162937 (GRCh37)
Canonical SPDI:: NC_000020.11:34575132:C:T
Gene:: PIGU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34575133C>T, NC_000020.10:g.33162937C>T, NG_011497.1:g.107153G>A, NM_080476.5:c.1165G>A, NM_080476.4:c.1165G>A, XM_017027664.2:c.1021G>A, XM_017027664.1:c.1021G>A, XM_011528542.2:c.517G>A, XM_011528542.1:c.517G>A, NP_536724.1:p.Ala389Thr, XP_016883153.1:p.Ala341Thr, XP_011526844.1:p.Ala173Thr

Select item 14702809044.

rs1470280904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34588567 (GRCh38)
20:33176371 (GRCh37)
Canonical SPDI:: NC_000020.11:34588566:C:G
Gene:: PIGU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34588567C>G, NC_000020.10:g.33176371C>G, NG_011497.1:g.93719G>C, NM_080476.5:c.668G>C, NM_080476.4:c.668G>C, XM_017027664.2:c.668G>C, XM_017027664.1:c.668G>C, XM_011528542.2:c.20G>C, XM_011528542.1:c.20G>C, NP_536724.1:p.Trp223Ser, XP_016883153.1:p.Trp223Ser, XP_011526844.1:p.Trp7Ser

Select item 14610450505.

rs1461045050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:34585568 (GRCh38)
20:33173372 (GRCh37)
Canonical SPDI:: NC_000020.11:34585567:T:C
Gene:: PIGU (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34585568T>C, NC_000020.10:g.33173372T>C, NG_011497.1:g.96718A>G, NM_080476.5:c.795A>G, NM_080476.4:c.795A>G, XM_011528542.2:c.147A>G, XM_011528542.1:c.147A>G

Select item 14597869556.

rs1459786955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34560951 (GRCh38)
20:33148755 (GRCh37)
Canonical SPDI:: NC_000020.11:34560950:G:A
Gene:: PIGU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.34560951G>A, NC_000020.10:g.33148755G>A, NG_011497.1:g.121335C>T, NM_080476.5:c.1223C>T, NM_080476.4:c.1223C>T, XM_017027664.2:c.1079C>T, XM_017027664.1:c.1079C>T, XM_011528542.2:c.575C>T, XM_011528542.1:c.575C>T, NP_536724.1:p.Ala408Val, XP_016883153.1:p.Ala360Val, XP_011526844.1:p.Ala192Val

Select item 14597695867.

rs1459769586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:34560871 (GRCh38)
20:33148675 (GRCh37)
Canonical SPDI:: NC_000020.11:34560870:T:G
Gene:: PIGU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34560871T>G, NC_000020.10:g.33148675T>G, NG_011497.1:g.121415A>C, NM_080476.5:c.1303A>C, NM_080476.4:c.1303A>C, XM_017027664.2:c.1159A>C, XM_017027664.1:c.1159A>C, XM_011528542.2:c.655A>C, XM_011528542.1:c.655A>C, NP_536724.1:p.Lys435Gln, XP_016883153.1:p.Lys387Gln, XP_011526844.1:p.Lys219Gln

Select item 14592171968.

rs1459217196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:34588580 (GRCh38)
20:33176384 (GRCh37)
Canonical SPDI:: NC_000020.11:34588579:T:C
Gene:: PIGU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.34588580T>C, NC_000020.10:g.33176384T>C, NG_011497.1:g.93706A>G, NM_080476.5:c.655A>G, NM_080476.4:c.655A>G, XM_017027664.2:c.655A>G, XM_017027664.1:c.655A>G, XM_011528542.2:c.7A>G, XM_011528542.1:c.7A>G, NP_536724.1:p.Ser219Gly, XP_016883153.1:p.Ser219Gly, XP_011526844.1:p.Ser3Gly

Select item 14587037319.

rs1458703731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34581588 (GRCh38)
20:33169392 (GRCh37)
Canonical SPDI:: NC_000020.11:34581587:G:A
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34581588G>A, NC_000020.10:g.33169392G>A, NG_011497.1:g.100698C>T, NM_080476.5:c.1011C>T, NM_080476.4:c.1011C>T, XM_017027664.2:c.867C>T, XM_017027664.1:c.867C>T, XM_011528542.2:c.363C>T, XM_011528542.1:c.363C>T

Select item 145628473610.

rs1456284736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:34575152 (GRCh38)
20:33162956 (GRCh37)
Canonical SPDI:: NC_000020.11:34575151:G:T
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34575152G>T, NC_000020.10:g.33162956G>T, NG_011497.1:g.107134C>A, NM_080476.5:c.1146C>A, NM_080476.4:c.1146C>A, XM_017027664.2:c.1002C>A, XM_017027664.1:c.1002C>A, XM_011528542.2:c.498C>A, XM_011528542.1:c.498C>A

Select item 145507909711.

rs1455079097 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAG>- [Show Flanks]
Chromosome:: 20:34588497 (GRCh38)
20:33176301 (GRCh37)
Canonical SPDI:: NC_000020.11:34588492:GAAGGAAG:GAAG
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GAAGGAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34588493GAAG[1], NC_000020.10:g.33176297GAAG[1], NG_011497.1:g.93786CTTC[1], NM_080476.5:c.739_742del, NM_080476.4:c.739_742del, XM_017027664.2:c.739_742del, XM_017027664.1:c.739_742del, XM_011528542.2:c.91_94del, XM_011528542.1:c.91_94del, NP_536724.1:p.Leu247fs, XP_016883153.1:p.Leu247fs, XP_011526844.1:p.Leu31fs

Select item 145338690512.

rs1453386905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34585521 (GRCh38)
20:33173325 (GRCh37)
Canonical SPDI:: NC_000020.11:34585520:A:G
Gene:: PIGU (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.34585521A>G, NC_000020.10:g.33173325A>G, NG_011497.1:g.96765T>C, NM_080476.5:c.842T>C, NM_080476.4:c.842T>C, XM_011528542.2:c.194T>C, XM_011528542.1:c.194T>C, NP_536724.1:p.Met281Thr, XP_011526844.1:p.Met65Thr

Select item 145150581713.

rs1451505817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34588547 (GRCh38)
20:33176351 (GRCh37)
Canonical SPDI:: NC_000020.11:34588546:C:T
Gene:: PIGU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34588547C>T, NC_000020.10:g.33176351C>T, NG_011497.1:g.93739G>A, NM_080476.5:c.688G>A, NM_080476.4:c.688G>A, XM_017027664.2:c.688G>A, XM_017027664.1:c.688G>A, XM_011528542.2:c.40G>A, XM_011528542.1:c.40G>A, NP_536724.1:p.Ala230Thr, XP_016883153.1:p.Ala230Thr, XP_011526844.1:p.Ala14Thr

Select item 144805555914.

rs1448055559 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:34588496 (GRCh38)
20:33176300 (GRCh37)
Canonical SPDI:: NC_000020.11:34588495:GG:G
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34588497del, NC_000020.10:g.33176301del, NG_011497.1:g.93790del, NM_080476.5:c.739del, NM_080476.4:c.739del, XM_017027664.2:c.739del, XM_017027664.1:c.739del, XM_011528542.2:c.91del, XM_011528542.1:c.91del, NP_536724.1:p.Leu247fs, XP_016883153.1:p.Leu247fs, XP_011526844.1:p.Leu31fs

Select item 144345544515.

rs1443455445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34575212 (GRCh38)
20:33163016 (GRCh37)
Canonical SPDI:: NC_000020.11:34575211:G:A
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34575212G>A, NC_000020.10:g.33163016G>A, NG_011497.1:g.107074C>T, NM_080476.5:c.1086C>T, NM_080476.4:c.1086C>T, XM_017027664.2:c.942C>T, XM_017027664.1:c.942C>T, XM_011528542.2:c.438C>T, XM_011528542.1:c.438C>T

Select item 143744714716.

rs1437447147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:34581561 (GRCh38)
20:33169365 (GRCh37)
Canonical SPDI:: NC_000020.11:34581560:G:T
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34581561G>T, NC_000020.10:g.33169365G>T, NG_011497.1:g.100725C>A, NM_080476.5:c.1038C>A, NM_080476.4:c.1038C>A, XM_017027664.2:c.894C>A, XM_017027664.1:c.894C>A, XM_011528542.2:c.390C>A, XM_011528542.1:c.390C>A, NP_536724.1:p.Asn346Lys, XP_016883153.1:p.Asn298Lys, XP_011526844.1:p.Asn130Lys

Select item 142328438817.

rs1423284388 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:34585493 (GRCh38)
20:33173298 (GRCh37)
Canonical SPDI:: NC_000020.11:34585493:A:AA
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000020.11:g.34585494dup, NC_000020.10:g.33173298dup, NG_011497.1:g.96792dup, NM_080476.5:c.869dup, NM_080476.4:c.869dup, XM_011528542.2:c.221dup, XM_011528542.1:c.221dup, NP_536724.1:p.Cys291fs, XP_011526844.1:p.Cys75fs

Select item 141869301218.

rs1418693012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34588540 (GRCh38)
20:33176344 (GRCh37)
Canonical SPDI:: NC_000020.11:34588539:A:G
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.34588540A>G, NC_000020.10:g.33176344A>G, NG_011497.1:g.93746T>C, NM_080476.5:c.695T>C, NM_080476.4:c.695T>C, XM_017027664.2:c.695T>C, XM_017027664.1:c.695T>C, XM_011528542.2:c.47T>C, XM_011528542.1:c.47T>C, NP_536724.1:p.Met232Thr, XP_016883153.1:p.Met232Thr, XP_011526844.1:p.Met16Thr

Select item 141708138919.

rs1417081389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34560938 (GRCh38)
20:33148742 (GRCh37)
Canonical SPDI:: NC_000020.11:34560937:C:T
Gene:: PIGU (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34560938C>T, NC_000020.10:g.33148742C>T, NG_011497.1:g.121348G>A, NM_080476.5:c.1236G>A, NM_080476.4:c.1236G>A, XM_017027664.2:c.1092G>A, XM_017027664.1:c.1092G>A, XM_011528542.2:c.588G>A, XM_011528542.1:c.588G>A

Select item 141689662220.

rs1416896622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:34560870 (GRCh38)
20:33148674 (GRCh37)
Canonical SPDI:: NC_000020.11:34560869:T:C
Gene:: PIGU (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000035/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34560870T>C, NC_000020.10:g.33148674T>C, NG_011497.1:g.121416A>G, NM_080476.5:c.1304A>G, NM_080476.4:c.1304A>G, XM_017027664.2:c.1160A>G, XM_017027664.1:c.1160A>G, XM_011528542.2:c.656A>G, XM_011528542.1:c.656A>G, NP_536724.1:p.Lys435Arg, XP_016883153.1:p.Lys387Arg, XP_011526844.1:p.Lys219Arg

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