SNP Links for Protein (Select 227497758) - SNP

Links from Protein

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Select item 14894336131.

rs1489433613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:49164235 (GRCh38)
17:47241597 (GRCh37)
Canonical SPDI:: NC_000017.11:49164234:A:C
Gene:: B4GALNT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.49164235A>C, NC_000017.10:g.47241597A>C, NM_153446.3:c.1094A>C, NM_153446.2:c.1094A>C, XM_017024173.2:c.836A>C, XM_017024173.1:c.836A>C, NM_001159388.2:c.836A>C, NM_001159388.1:c.836A>C, NM_001159387.2:c.914A>C, NM_001159387.1:c.914A>C, NP_703147.2:p.Lys365Thr, XP_016879662.1:p.Lys279Thr, NP_001152860.1:p.Lys279Thr, NP_001152859.1:p.Lys305Thr

Select item 14894042262.

rs1489404226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49168769 (GRCh38)
17:47246131 (GRCh37)
Canonical SPDI:: NC_000017.11:49168768:G:A
Gene:: B4GALNT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49168769G>A, NC_000017.10:g.47246131G>A, NM_153446.3:c.1364G>A, NM_153446.2:c.1364G>A, XM_017024173.2:c.1106G>A, XM_017024173.1:c.1106G>A, NM_001159388.2:c.1106G>A, NM_001159388.1:c.1106G>A, NM_001159387.2:c.1184G>A, NM_001159387.1:c.1184G>A, NP_703147.2:p.Gly455Glu, XP_016879662.1:p.Gly369Glu, NP_001152860.1:p.Gly369Glu, NP_001152859.1:p.Gly395Glu

Select item 14882704613.

rs1488270461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49164137 (GRCh38)
17:47241499 (GRCh37)
Canonical SPDI:: NC_000017.11:49164136:C:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49164137C>T, NC_000017.10:g.47241499C>T, NM_153446.3:c.996C>T, NM_153446.2:c.996C>T, XM_017024173.2:c.738C>T, XM_017024173.1:c.738C>T, NM_001159388.2:c.738C>T, NM_001159388.1:c.738C>T, NM_001159387.2:c.816C>T, NM_001159387.1:c.816C>T

Select item 14812076894.

rs1481207689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49159093 (GRCh38)
17:47236455 (GRCh37)
Canonical SPDI:: NC_000017.11:49159092:T:C
Gene:: B4GALNT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49159093T>C, NC_000017.10:g.47236455T>C, NM_153446.3:c.735T>C, NM_153446.2:c.735T>C, XM_011524314.3:c.735T>C, XM_011524314.2:c.735T>C, XM_011524314.1:c.735T>C, XM_017024173.2:c.477T>C, XM_017024173.1:c.477T>C, NM_001159388.2:c.477T>C, NM_001159388.1:c.477T>C, NM_001159387.2:c.555T>C, NM_001159387.1:c.555T>C

Select item 14807817625.

rs1480781762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49152879 (GRCh38)
17:47230241 (GRCh37)
Canonical SPDI:: NC_000017.11:49152878:A:G
Gene:: B4GALNT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49152879A>G, NC_000017.10:g.47230241A>G, NM_153446.3:c.613A>G, NM_153446.2:c.613A>G, XM_011524314.3:c.613A>G, XM_011524314.2:c.613A>G, XM_011524314.1:c.613A>G, XM_017024173.2:c.355A>G, XM_017024173.1:c.355A>G, NM_001159388.2:c.355A>G, NM_001159388.1:c.355A>G, NM_001159387.2:c.433A>G, NM_001159387.1:c.433A>G, NP_703147.2:p.Met205Val, XP_011522616.1:p.Met205Val, XP_016879662.1:p.Met119Val, NP_001152860.1:p.Met119Val, NP_001152859.1:p.Met145Val

Select item 14797683126.

rs1479768312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:49156570 (GRCh38)
17:47233932 (GRCh37)
Canonical SPDI:: NC_000017.11:49156569:C:G
Gene:: B4GALNT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49156570C>G, NC_000017.10:g.47233932C>G, NM_153446.3:c.645C>G, NM_153446.2:c.645C>G, XM_011524314.3:c.645C>G, XM_011524314.2:c.645C>G, XM_011524314.1:c.645C>G, XM_017024173.2:c.387C>G, XM_017024173.1:c.387C>G, NM_001159388.2:c.387C>G, NM_001159388.1:c.387C>G, NM_001159387.2:c.465C>G, NM_001159387.1:c.465C>G

Select item 14789820557.

rs1478982055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49169663 (GRCh38)
17:47247025 (GRCh37)
Canonical SPDI:: NC_000017.11:49169662:C:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49169663C>T, NC_000017.10:g.47247025C>T, NM_153446.3:c.1636C>T, NM_153446.2:c.1636C>T, XM_017024173.2:c.1378C>T, XM_017024173.1:c.1378C>T, NM_001159388.2:c.1378C>T, NM_001159388.1:c.1378C>T, NM_001159387.2:c.1456C>T, NM_001159387.1:c.1456C>T, NP_703147.2:p.Leu546Phe, XP_016879662.1:p.Leu460Phe, NP_001152860.1:p.Leu460Phe, NP_001152859.1:p.Leu486Phe

Select item 14746933768.

rs1474693376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49164214 (GRCh38)
17:47241576 (GRCh37)
Canonical SPDI:: NC_000017.11:49164213:G:A
Gene:: B4GALNT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.49164214G>A, NC_000017.10:g.47241576G>A, NM_153446.3:c.1073G>A, NM_153446.2:c.1073G>A, XM_017024173.2:c.815G>A, XM_017024173.1:c.815G>A, NM_001159388.2:c.815G>A, NM_001159388.1:c.815G>A, NM_001159387.2:c.893G>A, NM_001159387.1:c.893G>A, NP_703147.2:p.Ser358Asn, XP_016879662.1:p.Ser272Asn, NP_001152860.1:p.Ser272Asn, NP_001152859.1:p.Ser298Asn

Select item 14732179989.

rs1473217998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49169711 (GRCh38)
17:47247073 (GRCh37)
Canonical SPDI:: NC_000017.11:49169710:C:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.49169711C>T, NC_000017.10:g.47247073C>T, NM_153446.3:c.1684C>T, NM_153446.2:c.1684C>T, XM_017024173.2:c.1426C>T, XM_017024173.1:c.1426C>T, NM_001159388.2:c.1426C>T, NM_001159388.1:c.1426C>T, NM_001159387.2:c.1504C>T, NM_001159387.1:c.1504C>T, NP_703147.2:p.Leu562Phe, XP_016879662.1:p.Leu476Phe, NP_001152860.1:p.Leu476Phe, NP_001152859.1:p.Leu502Phe

Select item 147270630610.

rs1472706306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49142070 (GRCh38)
17:47219432 (GRCh37)
Canonical SPDI:: NC_000017.11:49142069:A:G
Gene:: B4GALNT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49142070A>G, NC_000017.10:g.47219432A>G, NM_153446.3:c.431A>G, NM_153446.2:c.431A>G, XM_011524314.3:c.431A>G, XM_011524314.2:c.431A>G, XM_011524314.1:c.431A>G, XM_017024173.2:c.173A>G, XM_017024173.1:c.173A>G, NM_001159388.2:c.173A>G, NM_001159388.1:c.173A>G, NM_001159387.2:c.251A>G, NM_001159387.1:c.251A>G, NP_703147.2:p.Asn144Ser, XP_011522616.1:p.Asn144Ser, XP_016879662.1:p.Asn58Ser, NP_001152860.1:p.Asn58Ser, NP_001152859.1:p.Asn84Ser

Select item 147178162711.

rs1471781627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49168720 (GRCh38)
17:47246082 (GRCh37)
Canonical SPDI:: NC_000017.11:49168719:T:C
Gene:: B4GALNT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.49168720T>C, NC_000017.10:g.47246082T>C, NM_153446.3:c.1315T>C, NM_153446.2:c.1315T>C, XM_017024173.2:c.1057T>C, XM_017024173.1:c.1057T>C, NM_001159388.2:c.1057T>C, NM_001159388.1:c.1057T>C, NM_001159387.2:c.1135T>C, NM_001159387.1:c.1135T>C

Select item 147041195212.

rs1470411952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49159177 (GRCh38)
17:47236539 (GRCh37)
Canonical SPDI:: NC_000017.11:49159176:A:G
Gene:: B4GALNT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49159177A>G, NC_000017.10:g.47236539A>G, NM_153446.3:c.819A>G, NM_153446.2:c.819A>G, XM_011524314.3:c.819A>G, XM_011524314.2:c.819A>G, XM_011524314.1:c.819A>G, XM_017024173.2:c.561A>G, XM_017024173.1:c.561A>G, NM_001159388.2:c.561A>G, NM_001159388.1:c.561A>G, NM_001159387.2:c.639A>G, NM_001159387.1:c.639A>G

Select item 146391362513.

rs1463913625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:49164238 (GRCh38)
17:47241600 (GRCh37)
Canonical SPDI:: NC_000017.11:49164237:A:G,NC_000017.11:49164237:A:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49164238A>G, NC_000017.11:g.49164238A>T, NC_000017.10:g.47241600A>G, NC_000017.10:g.47241600A>T, NM_153446.3:c.1097A>G, NM_153446.3:c.1097A>T, NM_153446.2:c.1097A>G, NM_153446.2:c.1097A>T, XM_017024173.2:c.839A>G, XM_017024173.2:c.839A>T, XM_017024173.1:c.839A>G, XM_017024173.1:c.839A>T, NM_001159388.2:c.839A>G, NM_001159388.2:c.839A>T, NM_001159388.1:c.839A>G, NM_001159388.1:c.839A>T, NM_001159387.2:c.917A>G, NM_001159387.2:c.917A>T, NM_001159387.1:c.917A>G, NM_001159387.1:c.917A>T, NP_703147.2:p.Asp366Gly, NP_703147.2:p.Asp366Val, XP_016879662.1:p.Asp280Gly, XP_016879662.1:p.Asp280Val, NP_001152860.1:p.Asp280Gly, NP_001152860.1:p.Asp280Val, NP_001152859.1:p.Asp306Gly, NP_001152859.1:p.Asp306Val

Select item 145977734214.

rs1459777342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:49152811 (GRCh38)
17:47230173 (GRCh37)
Canonical SPDI:: NC_000017.11:49152810:C:A,NC_000017.11:49152810:C:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.49152811C>A, NC_000017.11:g.49152811C>T, NC_000017.10:g.47230173C>A, NC_000017.10:g.47230173C>T, NM_153446.3:c.545C>A, NM_153446.3:c.545C>T, NM_153446.2:c.545C>A, NM_153446.2:c.545C>T, XM_011524314.3:c.545C>A, XM_011524314.3:c.545C>T, XM_011524314.2:c.545C>A, XM_011524314.2:c.545C>T, XM_011524314.1:c.545C>A, XM_011524314.1:c.545C>T, XM_017024173.2:c.287C>A, XM_017024173.2:c.287C>T, XM_017024173.1:c.287C>A, XM_017024173.1:c.287C>T, NM_001159388.2:c.287C>A, NM_001159388.2:c.287C>T, NM_001159388.1:c.287C>A, NM_001159388.1:c.287C>T, NM_001159387.2:c.365C>A, NM_001159387.2:c.365C>T, NM_001159387.1:c.365C>A, NM_001159387.1:c.365C>T, NP_703147.2:p.Pro182His, NP_703147.2:p.Pro182Leu, XP_011522616.1:p.Pro182His, XP_011522616.1:p.Pro182Leu, XP_016879662.1:p.Pro96His, XP_016879662.1:p.Pro96Leu, NP_001152860.1:p.Pro96His, NP_001152860.1:p.Pro96Leu, NP_001152859.1:p.Pro122His, NP_001152859.1:p.Pro122Leu

Select item 145723458015.

rs1457234580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:49142138 (GRCh38)
17:47219500 (GRCh37)
Canonical SPDI:: NC_000017.11:49142137:A:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.49142138A>T, NC_000017.10:g.47219500A>T, NM_153446.3:c.499A>T, NM_153446.2:c.499A>T, XM_011524314.3:c.499A>T, XM_011524314.2:c.499A>T, XM_011524314.1:c.499A>T, XM_017024173.2:c.241A>T, XM_017024173.1:c.241A>T, NM_001159388.2:c.241A>T, NM_001159388.1:c.241A>T, NM_001159387.2:c.319A>T, NM_001159387.1:c.319A>T, NP_703147.2:p.Arg167Trp, XP_011522616.1:p.Arg167Trp, XP_016879662.1:p.Arg81Trp, NP_001152860.1:p.Arg81Trp, NP_001152859.1:p.Arg107Trp

Select item 145668811616.

rs1456688116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49164188 (GRCh38)
17:47241550 (GRCh37)
Canonical SPDI:: NC_000017.11:49164187:C:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49164188C>T, NC_000017.10:g.47241550C>T, NM_153446.3:c.1047C>T, NM_153446.2:c.1047C>T, XM_017024173.2:c.789C>T, XM_017024173.1:c.789C>T, NM_001159388.2:c.789C>T, NM_001159388.1:c.789C>T, NM_001159387.2:c.867C>T, NM_001159387.1:c.867C>T

Select item 145423672017.

rs1454236720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49141433 (GRCh38)
17:47218795 (GRCh37)
Canonical SPDI:: NC_000017.11:49141432:C:T
Gene:: B4GALNT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49141433C>T, NC_000017.10:g.47218795C>T, NM_153446.3:c.381C>T, NM_153446.2:c.381C>T, XM_011524314.3:c.381C>T, XM_011524314.2:c.381C>T, XM_011524314.1:c.381C>T, XM_017024173.2:c.123C>T, XM_017024173.1:c.123C>T, NM_001159388.2:c.123C>T, NM_001159388.1:c.123C>T, NM_001159387.2:c.201C>T, NM_001159387.1:c.201C>T

Select item 144492023618.

rs1444920236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49169654 (GRCh38)
17:47247016 (GRCh37)
Canonical SPDI:: NC_000017.11:49169653:T:C
Gene:: B4GALNT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49169654T>C, NC_000017.10:g.47247016T>C, NM_153446.3:c.1627T>C, NM_153446.2:c.1627T>C, XM_017024173.2:c.1369T>C, XM_017024173.1:c.1369T>C, NM_001159388.2:c.1369T>C, NM_001159388.1:c.1369T>C, NM_001159387.2:c.1447T>C, NM_001159387.1:c.1447T>C, NP_703147.2:p.Ser543Pro, XP_016879662.1:p.Ser457Pro, NP_001152860.1:p.Ser457Pro, NP_001152859.1:p.Ser483Pro

Select item 144488041019.

rs1444880410 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 17:49159209 (GRCh38)
17:47236572 (GRCh37)
Canonical SPDI:: NC_000017.11:49159209:AGA:AGAGA
Gene:: B4GALNT2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
AG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49159211_49159212dup, NC_000017.10:g.47236573_47236574dup, NM_153446.3:c.853_854dup, NM_153446.2:c.853_854dup, XM_011524314.3:c.853_854dup, XM_011524314.2:c.853_854dup, XM_011524314.1:c.853_854dup, XM_017024173.2:c.595_596dup, XM_017024173.1:c.595_596dup, NM_001159388.2:c.595_596dup, NM_001159388.1:c.595_596dup, NM_001159387.2:c.673_674dup, NM_001159387.1:c.673_674dup, NP_703147.2:p.Asp285fs, XP_011522616.1:p.Asp285fs, XP_016879662.1:p.Asp199fs, NP_001152860.1:p.Asp199fs, NP_001152859.1:p.Asp225fs

Select item 144169348520.

rs1441693485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49156601 (GRCh38)
17:47233963 (GRCh37)
Canonical SPDI:: NC_000017.11:49156600:G:A
Gene:: B4GALNT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.49156601G>A, NC_000017.10:g.47233963G>A, NM_153446.3:c.676G>A, NM_153446.2:c.676G>A, XM_011524314.3:c.676G>A, XM_011524314.2:c.676G>A, XM_011524314.1:c.676G>A, XM_017024173.2:c.418G>A, XM_017024173.1:c.418G>A, NM_001159388.2:c.418G>A, NM_001159388.1:c.418G>A, NM_001159387.2:c.496G>A, NM_001159387.1:c.496G>A, NP_703147.2:p.Glu226Lys, XP_011522616.1:p.Glu226Lys, XP_016879662.1:p.Glu140Lys, NP_001152860.1:p.Glu140Lys, NP_001152859.1:p.Glu166Lys

dbSNP

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