SNP Links for Protein (Select 55749589) - SNP

Links from Protein

Items: 1 to 20 of 704

<< First< Prev

Page of 36

Next >Last >>

Select item 14892916771.

rs1489291677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49311300 (GRCh38)
19:49814557 (GRCh37)
Canonical SPDI:: NC_000019.10:49311299:T:C
Gene:: SLC6A16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000032/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49311300T>C, NC_000019.9:g.49814557T>C, XM_005258820.4:c.48A>G, XM_005258820.3:c.48A>G, XM_005258820.2:c.48A>G, XM_005258820.1:c.48A>G, XM_006723168.4:c.48A>G, XM_006723168.3:c.48A>G, XM_006723168.2:c.48A>G, XM_006723168.1:c.48A>G, XM_011526859.4:c.48A>G, XM_011526859.3:c.294A>G, XM_011526859.2:c.294A>G, XM_011526859.1:c.48A>G, XM_011526860.3:c.114A>G, XM_011526860.2:c.114A>G, XM_011526860.1:c.114A>G, NM_014037.3:c.48A>G, NM_014037.2:c.48A>G, XM_024451472.2:c.48A>G, XM_024451472.1:c.48A>G, XM_047438701.1:c.225A>G, XM_047438702.1:c.225A>G, XM_047438703.1:c.117A>G

Select item 14864196142.

rs1486419614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49309348 (GRCh38)
19:49812605 (GRCh37)
Canonical SPDI:: NC_000019.10:49309347:G:A
Gene:: SLC6A16 (Varview), MIR4324 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49309348G>A, NC_000019.9:g.49812605G>A, XM_005258820.4:c.940C>T, XM_005258820.3:c.940C>T, XM_005258820.2:c.940C>T, XM_005258820.1:c.940C>T, XM_006723168.4:c.940C>T, XM_006723168.3:c.940C>T, XM_006723168.2:c.940C>T, XM_006723168.1:c.940C>T, XM_011526861.4:c.499C>T, XM_011526861.3:c.499C>T, XM_011526861.2:c.499C>T, XM_011526861.1:c.499C>T, XM_011526860.3:c.1006C>T, XM_011526860.2:c.1006C>T, XM_011526860.1:c.1006C>T, NM_014037.3:c.940C>T, NM_014037.2:c.940C>T, XM_024451472.2:c.940C>T, XM_024451472.1:c.940C>T, XM_047438701.1:c.1117C>T, XM_047438702.1:c.1117C>T, XM_047438703.1:c.1009C>T, XM_047438704.1:c.499C>T, XP_005258877.1:p.Leu314Phe, XP_006723231.1:p.Leu314Phe, XP_011525163.1:p.Leu167Phe, XP_011525162.1:p.Leu336Phe, NP_054756.2:p.Leu314Phe, XP_024307240.1:p.Leu314Phe, XP_047294657.1:p.Leu373Phe, XP_047294658.1:p.Leu373Phe, XP_047294659.1:p.Leu337Phe, XP_047294660.1:p.Leu167Phe

Select item 14860844303.

rs1486084430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49309038 (GRCh38)
19:49812295 (GRCh37)
Canonical SPDI:: NC_000019.10:49309037:G:C
Gene:: SLC6A16 (Varview), MIR4324 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49309038G>C, NC_000019.9:g.49812295G>C, XM_005258820.4:c.1067C>G, XM_005258820.3:c.1067C>G, XM_005258820.2:c.1067C>G, XM_005258820.1:c.1067C>G, XM_006723168.4:c.1067C>G, XM_006723168.3:c.1067C>G, XM_006723168.2:c.1067C>G, XM_006723168.1:c.1067C>G, XM_011526859.4:c.956C>G, XM_011526859.3:c.1202C>G, XM_011526859.2:c.1202C>G, XM_011526859.1:c.956C>G, XM_011526861.4:c.626C>G, XM_011526861.3:c.626C>G, XM_011526861.2:c.626C>G, XM_011526861.1:c.626C>G, XM_011526860.3:c.1133C>G, XM_011526860.2:c.1133C>G, XM_011526860.1:c.1133C>G, NM_014037.3:c.1067C>G, NM_014037.2:c.1067C>G, XM_024451472.2:c.1067C>G, XM_024451472.1:c.1067C>G, XM_047438701.1:c.1244C>G, XM_047438702.1:c.1244C>G, XM_047438703.1:c.1136C>G, XM_047438704.1:c.626C>G, XP_005258877.1:p.Ser356Cys, XP_006723231.1:p.Ser356Cys, XP_011525161.3:p.Ser319Cys, XP_011525163.1:p.Ser209Cys, XP_011525162.1:p.Ser378Cys, NP_054756.2:p.Ser356Cys, XP_024307240.1:p.Ser356Cys, XP_047294657.1:p.Ser415Cys, XP_047294658.1:p.Ser415Cys, XP_047294659.1:p.Ser379Cys, XP_047294660.1:p.Ser209Cys

Select item 14778299444.

rs1477829944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49311124 (GRCh38)
19:49814381 (GRCh37)
Canonical SPDI:: NC_000019.10:49311123:A:G
Gene:: SLC6A16 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49311124A>G, NC_000019.9:g.49814381A>G, XM_005258820.4:c.224T>C, XM_005258820.3:c.224T>C, XM_005258820.2:c.224T>C, XM_005258820.1:c.224T>C, XM_006723168.4:c.224T>C, XM_006723168.3:c.224T>C, XM_006723168.2:c.224T>C, XM_006723168.1:c.224T>C, XM_011526859.4:c.224T>C, XM_011526859.3:c.470T>C, XM_011526859.2:c.470T>C, XM_011526859.1:c.224T>C, XM_011526860.3:c.290T>C, XM_011526860.2:c.290T>C, XM_011526860.1:c.290T>C, NM_014037.3:c.224T>C, NM_014037.2:c.224T>C, XM_024451472.2:c.224T>C, XM_024451472.1:c.224T>C, XM_047438701.1:c.401T>C, XM_047438702.1:c.401T>C, XM_047438703.1:c.293T>C, XP_005258877.1:p.Leu75Ser, XP_006723231.1:p.Leu75Ser, XP_011525161.3:p.Leu75Ser, XP_011525162.1:p.Leu97Ser, NP_054756.2:p.Leu75Ser, XP_024307240.1:p.Leu75Ser, XP_047294657.1:p.Leu134Ser, XP_047294658.1:p.Leu134Ser, XP_047294659.1:p.Leu98Ser

Select item 14750604415.

rs1475060441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49290656 (GRCh38)
19:49793913 (GRCh37)
Canonical SPDI:: NC_000019.10:49290655:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49290656C>T, NC_000019.9:g.49793913C>T, XM_005258820.4:c.1890G>A, XM_005258820.3:c.1890G>A, XM_005258820.2:c.1890G>A, XM_005258820.1:c.1890G>A, XM_006723168.4:c.1890G>A, XM_006723168.3:c.1890G>A, XM_006723168.2:c.1890G>A, XM_006723168.1:c.1890G>A, XM_011526859.4:c.1779G>A, XM_011526859.3:c.2025G>A, XM_011526859.2:c.2025G>A, XM_011526859.1:c.1779G>A, XM_011526861.4:c.1449G>A, XM_011526861.3:c.1449G>A, XM_011526861.2:c.1449G>A, XM_011526861.1:c.1449G>A, XM_011526860.3:c.1956G>A, XM_011526860.2:c.1956G>A, XM_011526860.1:c.1956G>A, NM_014037.3:c.1890G>A, NM_014037.2:c.1890G>A, XM_024451472.2:c.1890G>A, XM_024451472.1:c.1890G>A, XM_047438701.1:c.2067G>A, XM_047438702.1:c.2067G>A, XM_047438703.1:c.1959G>A, XM_047438704.1:c.1449G>A, XP_005258877.1:p.Met630Ile, XP_006723231.1:p.Met630Ile, XP_011525161.3:p.Met593Ile, XP_011525163.1:p.Met483Ile, XP_011525162.1:p.Met652Ile, NP_054756.2:p.Met630Ile, XP_024307240.1:p.Met630Ile, XP_047294657.1:p.Met689Ile, XP_047294658.1:p.Met689Ile, XP_047294659.1:p.Met653Ile, XP_047294660.1:p.Met483Ile

Select item 14747344526.

rs1474734452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:49294519 (GRCh38)
19:49797776 (GRCh37)
Canonical SPDI:: NC_000019.10:49294518:C:A,NC_000019.10:49294518:C:G
Gene:: SLC6A16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.49294519C>A, NC_000019.10:g.49294519C>G, NC_000019.9:g.49797776C>A, NC_000019.9:g.49797776C>G, XM_005258820.4:c.1264G>T, XM_005258820.4:c.1264G>C, XM_005258820.3:c.1264G>T, XM_005258820.3:c.1264G>C, XM_005258820.2:c.1264G>T, XM_005258820.2:c.1264G>C, XM_005258820.1:c.1264G>T, XM_005258820.1:c.1264G>C, XM_006723168.4:c.1264G>T, XM_006723168.4:c.1264G>C, XM_006723168.3:c.1264G>T, XM_006723168.3:c.1264G>C, XM_006723168.2:c.1264G>T, XM_006723168.2:c.1264G>C, XM_006723168.1:c.1264G>T, XM_006723168.1:c.1264G>C, XM_011526859.4:c.1153G>T, XM_011526859.4:c.1153G>C, XM_011526859.3:c.1399G>T, XM_011526859.3:c.1399G>C, XM_011526859.2:c.1399G>T, XM_011526859.2:c.1399G>C, XM_011526859.1:c.1153G>T, XM_011526859.1:c.1153G>C, XM_011526861.4:c.823G>T, XM_011526861.4:c.823G>C, XM_011526861.3:c.823G>T, XM_011526861.3:c.823G>C, XM_011526861.2:c.823G>T, XM_011526861.2:c.823G>C, XM_011526861.1:c.823G>T, XM_011526861.1:c.823G>C, XM_011526860.3:c.1330G>T, XM_011526860.3:c.1330G>C, XM_011526860.2:c.1330G>T, XM_011526860.2:c.1330G>C, XM_011526860.1:c.1330G>T, XM_011526860.1:c.1330G>C, NM_014037.3:c.1264G>T, NM_014037.3:c.1264G>C, NM_014037.2:c.1264G>T, NM_014037.2:c.1264G>C, XM_024451472.2:c.1264G>T, XM_024451472.2:c.1264G>C, XM_024451472.1:c.1264G>T, XM_024451472.1:c.1264G>C, XM_047438701.1:c.1441G>T, XM_047438701.1:c.1441G>C, XM_047438702.1:c.1441G>T, XM_047438702.1:c.1441G>C, XM_047438703.1:c.1333G>T, XM_047438703.1:c.1333G>C, XM_047438704.1:c.823G>T, XM_047438704.1:c.823G>C, XP_005258877.1:p.Gly422Trp, XP_005258877.1:p.Gly422Arg, XP_006723231.1:p.Gly422Trp, XP_006723231.1:p.Gly422Arg, XP_011525161.3:p.Gly385Trp, XP_011525161.3:p.Gly385Arg, XP_011525163.1:p.Gly275Trp, XP_011525163.1:p.Gly275Arg, XP_011525162.1:p.Gly444Trp, XP_011525162.1:p.Gly444Arg, NP_054756.2:p.Gly422Trp, NP_054756.2:p.Gly422Arg, XP_024307240.1:p.Gly422Trp, XP_024307240.1:p.Gly422Arg, XP_047294657.1:p.Gly481Trp, XP_047294657.1:p.Gly481Arg, XP_047294658.1:p.Gly481Trp, XP_047294658.1:p.Gly481Arg, XP_047294659.1:p.Gly445Trp, XP_047294659.1:p.Gly445Arg, XP_047294660.1:p.Gly275Trp, XP_047294660.1:p.Gly275Arg

Select item 14739360667.

rs1473936066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49293321 (GRCh38)
19:49796578 (GRCh37)
Canonical SPDI:: NC_000019.10:49293320:G:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49293321G>T, NC_000019.9:g.49796578G>T, XM_005258820.4:c.1680C>A, XM_005258820.3:c.1680C>A, XM_005258820.2:c.1680C>A, XM_005258820.1:c.1680C>A, XM_006723168.4:c.1680C>A, XM_006723168.3:c.1680C>A, XM_006723168.2:c.1680C>A, XM_006723168.1:c.1680C>A, XM_011526859.4:c.1569C>A, XM_011526859.3:c.1815C>A, XM_011526859.2:c.1815C>A, XM_011526859.1:c.1569C>A, XM_011526861.4:c.1239C>A, XM_011526861.3:c.1239C>A, XM_011526861.2:c.1239C>A, XM_011526861.1:c.1239C>A, XM_011526860.3:c.1746C>A, XM_011526860.2:c.1746C>A, XM_011526860.1:c.1746C>A, NM_014037.3:c.1680C>A, NM_014037.2:c.1680C>A, XM_024451472.2:c.1680C>A, XM_024451472.1:c.1680C>A, XM_047438701.1:c.1857C>A, XM_047438702.1:c.1857C>A, XM_047438703.1:c.1749C>A, XM_047438704.1:c.1239C>A, XP_005258877.1:p.Tyr560Ter, XP_006723231.1:p.Tyr560Ter, XP_011525161.3:p.Tyr523Ter, XP_011525163.1:p.Tyr413Ter, XP_011525162.1:p.Tyr582Ter, NP_054756.2:p.Tyr560Ter, XP_024307240.1:p.Tyr560Ter, XP_047294657.1:p.Tyr619Ter, XP_047294658.1:p.Tyr619Ter, XP_047294659.1:p.Tyr583Ter, XP_047294660.1:p.Tyr413Ter

Select item 14728301858.

rs1472830185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49290726 (GRCh38)
19:49793983 (GRCh37)
Canonical SPDI:: NC_000019.10:49290725:G:C
Gene:: SLC6A16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49290726G>C, NC_000019.9:g.49793983G>C, XM_005258820.4:c.1820C>G, XM_005258820.3:c.1820C>G, XM_005258820.2:c.1820C>G, XM_005258820.1:c.1820C>G, XM_006723168.4:c.1820C>G, XM_006723168.3:c.1820C>G, XM_006723168.2:c.1820C>G, XM_006723168.1:c.1820C>G, XM_011526859.4:c.1709C>G, XM_011526859.3:c.1955C>G, XM_011526859.2:c.1955C>G, XM_011526859.1:c.1709C>G, XM_011526861.4:c.1379C>G, XM_011526861.3:c.1379C>G, XM_011526861.2:c.1379C>G, XM_011526861.1:c.1379C>G, XM_011526860.3:c.1886C>G, XM_011526860.2:c.1886C>G, XM_011526860.1:c.1886C>G, NM_014037.3:c.1820C>G, NM_014037.2:c.1820C>G, XM_024451472.2:c.1820C>G, XM_024451472.1:c.1820C>G, XM_047438701.1:c.1997C>G, XM_047438702.1:c.1997C>G, XM_047438703.1:c.1889C>G, XM_047438704.1:c.1379C>G, XP_005258877.1:p.Ser607Cys, XP_006723231.1:p.Ser607Cys, XP_011525161.3:p.Ser570Cys, XP_011525163.1:p.Ser460Cys, XP_011525162.1:p.Ser629Cys, NP_054756.2:p.Ser607Cys, XP_024307240.1:p.Ser607Cys, XP_047294657.1:p.Ser666Cys, XP_047294658.1:p.Ser666Cys, XP_047294659.1:p.Ser630Cys, XP_047294660.1:p.Ser460Cys

Select item 14718993949.

rs1471899394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49293377 (GRCh38)
19:49796634 (GRCh37)
Canonical SPDI:: NC_000019.10:49293376:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49293377C>T, NC_000019.9:g.49796634C>T, XM_005258820.4:c.1624G>A, XM_005258820.3:c.1624G>A, XM_005258820.2:c.1624G>A, XM_005258820.1:c.1624G>A, XM_006723168.4:c.1624G>A, XM_006723168.3:c.1624G>A, XM_006723168.2:c.1624G>A, XM_006723168.1:c.1624G>A, XM_011526859.4:c.1513G>A, XM_011526859.3:c.1759G>A, XM_011526859.2:c.1759G>A, XM_011526859.1:c.1513G>A, XM_011526861.4:c.1183G>A, XM_011526861.3:c.1183G>A, XM_011526861.2:c.1183G>A, XM_011526861.1:c.1183G>A, XM_011526860.3:c.1690G>A, XM_011526860.2:c.1690G>A, XM_011526860.1:c.1690G>A, NM_014037.3:c.1624G>A, NM_014037.2:c.1624G>A, XM_024451472.2:c.1624G>A, XM_024451472.1:c.1624G>A, XM_047438701.1:c.1801G>A, XM_047438702.1:c.1801G>A, XM_047438703.1:c.1693G>A, XM_047438704.1:c.1183G>A, XP_005258877.1:p.Val542Ile, XP_006723231.1:p.Val542Ile, XP_011525161.3:p.Val505Ile, XP_011525163.1:p.Val395Ile, XP_011525162.1:p.Val564Ile, NP_054756.2:p.Val542Ile, XP_024307240.1:p.Val542Ile, XP_047294657.1:p.Val601Ile, XP_047294658.1:p.Val601Ile, XP_047294659.1:p.Val565Ile, XP_047294660.1:p.Val395Ile

Select item 146937962510.

rs1469379625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49294545 (GRCh38)
19:49797802 (GRCh37)
Canonical SPDI:: NC_000019.10:49294544:T:G
Gene:: SLC6A16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49294545T>G, NC_000019.9:g.49797802T>G, XM_005258820.4:c.1238A>C, XM_005258820.3:c.1238A>C, XM_005258820.2:c.1238A>C, XM_005258820.1:c.1238A>C, XM_006723168.4:c.1238A>C, XM_006723168.3:c.1238A>C, XM_006723168.2:c.1238A>C, XM_006723168.1:c.1238A>C, XM_011526859.4:c.1127A>C, XM_011526859.3:c.1373A>C, XM_011526859.2:c.1373A>C, XM_011526859.1:c.1127A>C, XM_011526861.4:c.797A>C, XM_011526861.3:c.797A>C, XM_011526861.2:c.797A>C, XM_011526861.1:c.797A>C, XM_011526860.3:c.1304A>C, XM_011526860.2:c.1304A>C, XM_011526860.1:c.1304A>C, NM_014037.3:c.1238A>C, NM_014037.2:c.1238A>C, XM_024451472.2:c.1238A>C, XM_024451472.1:c.1238A>C, XM_047438701.1:c.1415A>C, XM_047438702.1:c.1415A>C, XM_047438703.1:c.1307A>C, XM_047438704.1:c.797A>C, XP_005258877.1:p.Glu413Ala, XP_006723231.1:p.Glu413Ala, XP_011525161.3:p.Glu376Ala, XP_011525163.1:p.Glu266Ala, XP_011525162.1:p.Glu435Ala, NP_054756.2:p.Glu413Ala, XP_024307240.1:p.Glu413Ala, XP_047294657.1:p.Glu472Ala, XP_047294658.1:p.Glu472Ala, XP_047294659.1:p.Glu436Ala, XP_047294660.1:p.Glu266Ala

Select item 146638217411.

rs1466382174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49309768 (GRCh38)
19:49813025 (GRCh37)
Canonical SPDI:: NC_000019.10:49309767:C:A
Gene:: SLC6A16 (Varview), MIR4324 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49309768C>A, NC_000019.9:g.49813025C>A, XM_005258820.4:c.759G>T, XM_005258820.3:c.759G>T, XM_005258820.2:c.759G>T, XM_005258820.1:c.759G>T, XM_006723168.4:c.759G>T, XM_006723168.3:c.759G>T, XM_006723168.2:c.759G>T, XM_006723168.1:c.759G>T, XM_011526859.4:c.759G>T, XM_011526859.3:c.1005G>T, XM_011526859.2:c.1005G>T, XM_011526859.1:c.759G>T, XM_011526861.4:c.318G>T, XM_011526861.3:c.318G>T, XM_011526861.2:c.318G>T, XM_011526861.1:c.318G>T, XM_011526860.3:c.825G>T, XM_011526860.2:c.825G>T, XM_011526860.1:c.825G>T, NM_014037.3:c.759G>T, NM_014037.2:c.759G>T, XM_024451472.2:c.759G>T, XM_024451472.1:c.759G>T, XM_047438701.1:c.936G>T, XM_047438702.1:c.936G>T, XM_047438703.1:c.828G>T, XM_047438704.1:c.318G>T, XP_005258877.1:p.Lys253Asn, XP_006723231.1:p.Lys253Asn, XP_011525161.3:p.Lys253Asn, XP_011525163.1:p.Lys106Asn, XP_011525162.1:p.Lys275Asn, NP_054756.2:p.Lys253Asn, XP_024307240.1:p.Lys253Asn, XP_047294657.1:p.Lys312Asn, XP_047294658.1:p.Lys312Asn, XP_047294659.1:p.Lys276Asn, XP_047294660.1:p.Lys106Asn

Select item 146240880312.

rs1462408803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49293330 (GRCh38)
19:49796587 (GRCh37)
Canonical SPDI:: NC_000019.10:49293329:T:C
Gene:: SLC6A16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49293330T>C, NC_000019.9:g.49796587T>C, XM_005258820.4:c.1671A>G, XM_005258820.3:c.1671A>G, XM_005258820.2:c.1671A>G, XM_005258820.1:c.1671A>G, XM_006723168.4:c.1671A>G, XM_006723168.3:c.1671A>G, XM_006723168.2:c.1671A>G, XM_006723168.1:c.1671A>G, XM_011526859.4:c.1560A>G, XM_011526859.3:c.1806A>G, XM_011526859.2:c.1806A>G, XM_011526859.1:c.1560A>G, XM_011526861.4:c.1230A>G, XM_011526861.3:c.1230A>G, XM_011526861.2:c.1230A>G, XM_011526861.1:c.1230A>G, XM_011526860.3:c.1737A>G, XM_011526860.2:c.1737A>G, XM_011526860.1:c.1737A>G, NM_014037.3:c.1671A>G, NM_014037.2:c.1671A>G, XM_024451472.2:c.1671A>G, XM_024451472.1:c.1671A>G, XM_047438701.1:c.1848A>G, XM_047438702.1:c.1848A>G, XM_047438703.1:c.1740A>G, XM_047438704.1:c.1230A>G

Select item 146204815913.

rs1462048159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49310445 (GRCh38)
19:49813702 (GRCh37)
Canonical SPDI:: NC_000019.10:49310444:T:C
Gene:: SLC6A16 (Varview), MIR4324 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49310445T>C, NC_000019.9:g.49813702T>C, XM_005258820.4:c.481A>G, XM_005258820.3:c.481A>G, XM_005258820.2:c.481A>G, XM_005258820.1:c.481A>G, XM_006723168.4:c.481A>G, XM_006723168.3:c.481A>G, XM_006723168.2:c.481A>G, XM_006723168.1:c.481A>G, XM_011526859.4:c.481A>G, XM_011526859.3:c.727A>G, XM_011526859.2:c.727A>G, XM_011526859.1:c.481A>G, XM_011526861.4:c.40A>G, XM_011526861.3:c.40A>G, XM_011526861.2:c.40A>G, XM_011526861.1:c.40A>G, XM_011526860.3:c.547A>G, XM_011526860.2:c.547A>G, XM_011526860.1:c.547A>G, NM_014037.3:c.481A>G, NM_014037.2:c.481A>G, XM_024451472.2:c.481A>G, XM_024451472.1:c.481A>G, XM_047438701.1:c.658A>G, XM_047438702.1:c.658A>G, XM_047438703.1:c.550A>G, XM_047438704.1:c.40A>G, XP_005258877.1:p.Met161Val, XP_006723231.1:p.Met161Val, XP_011525161.3:p.Met161Val, XP_011525163.1:p.Met14Val, XP_011525162.1:p.Met183Val, NP_054756.2:p.Met161Val, XP_024307240.1:p.Met161Val, XP_047294657.1:p.Met220Val, XP_047294658.1:p.Met220Val, XP_047294659.1:p.Met184Val, XP_047294660.1:p.Met14Val

Select item 146144490514.

rs1461444905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49309388 (GRCh38)
19:49812645 (GRCh37)
Canonical SPDI:: NC_000019.10:49309387:G:A
Gene:: SLC6A16 (Varview), MIR4324 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49309388G>A, NC_000019.9:g.49812645G>A, XM_005258820.4:c.900C>T, XM_005258820.3:c.900C>T, XM_005258820.2:c.900C>T, XM_005258820.1:c.900C>T, XM_006723168.4:c.900C>T, XM_006723168.3:c.900C>T, XM_006723168.2:c.900C>T, XM_006723168.1:c.900C>T, XM_011526861.4:c.459C>T, XM_011526861.3:c.459C>T, XM_011526861.2:c.459C>T, XM_011526861.1:c.459C>T, XM_011526860.3:c.966C>T, XM_011526860.2:c.966C>T, XM_011526860.1:c.966C>T, NM_014037.3:c.900C>T, NM_014037.2:c.900C>T, XM_024451472.2:c.900C>T, XM_024451472.1:c.900C>T, XM_047438701.1:c.1077C>T, XM_047438702.1:c.1077C>T, XM_047438703.1:c.969C>T, XM_047438704.1:c.459C>T

Select item 146010257515.

rs1460102575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49308954 (GRCh38)
19:49812211 (GRCh37)
Canonical SPDI:: NC_000019.10:49308953:G:C
Gene:: SLC6A16 (Varview), MIR4324 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49308954G>C, NC_000019.9:g.49812211G>C, XM_005258820.4:c.1151C>G, XM_005258820.3:c.1151C>G, XM_005258820.2:c.1151C>G, XM_005258820.1:c.1151C>G, XM_006723168.4:c.1151C>G, XM_006723168.3:c.1151C>G, XM_006723168.2:c.1151C>G, XM_006723168.1:c.1151C>G, XM_011526859.4:c.1040C>G, XM_011526859.3:c.1286C>G, XM_011526859.2:c.1286C>G, XM_011526859.1:c.1040C>G, XM_011526861.4:c.710C>G, XM_011526861.3:c.710C>G, XM_011526861.2:c.710C>G, XM_011526861.1:c.710C>G, XM_011526860.3:c.1217C>G, XM_011526860.2:c.1217C>G, XM_011526860.1:c.1217C>G, NM_014037.3:c.1151C>G, NM_014037.2:c.1151C>G, XM_024451472.2:c.1151C>G, XM_024451472.1:c.1151C>G, XM_047438701.1:c.1328C>G, XM_047438702.1:c.1328C>G, XM_047438703.1:c.1220C>G, XM_047438704.1:c.710C>G, XP_005258877.1:p.Thr384Ser, XP_006723231.1:p.Thr384Ser, XP_011525161.3:p.Thr347Ser, XP_011525163.1:p.Thr237Ser, XP_011525162.1:p.Thr406Ser, NP_054756.2:p.Thr384Ser, XP_024307240.1:p.Thr384Ser, XP_047294657.1:p.Thr443Ser, XP_047294658.1:p.Thr443Ser, XP_047294659.1:p.Thr407Ser, XP_047294660.1:p.Thr237Ser

Select item 145966518616.

rs1459665186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49290720 (GRCh38)
19:49793977 (GRCh37)
Canonical SPDI:: NC_000019.10:49290719:A:G
Gene:: SLC6A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49290720A>G, NC_000019.9:g.49793977A>G, XM_005258820.4:c.1826T>C, XM_005258820.3:c.1826T>C, XM_005258820.2:c.1826T>C, XM_005258820.1:c.1826T>C, XM_006723168.4:c.1826T>C, XM_006723168.3:c.1826T>C, XM_006723168.2:c.1826T>C, XM_006723168.1:c.1826T>C, XM_011526859.4:c.1715T>C, XM_011526859.3:c.1961T>C, XM_011526859.2:c.1961T>C, XM_011526859.1:c.1715T>C, XM_011526861.4:c.1385T>C, XM_011526861.3:c.1385T>C, XM_011526861.2:c.1385T>C, XM_011526861.1:c.1385T>C, XM_011526860.3:c.1892T>C, XM_011526860.2:c.1892T>C, XM_011526860.1:c.1892T>C, NM_014037.3:c.1826T>C, NM_014037.2:c.1826T>C, XM_024451472.2:c.1826T>C, XM_024451472.1:c.1826T>C, XM_047438701.1:c.2003T>C, XM_047438702.1:c.2003T>C, XM_047438703.1:c.1895T>C, XM_047438704.1:c.1385T>C, XP_005258877.1:p.Ile609Thr, XP_006723231.1:p.Ile609Thr, XP_011525161.3:p.Ile572Thr, XP_011525163.1:p.Ile462Thr, XP_011525162.1:p.Ile631Thr, NP_054756.2:p.Ile609Thr, XP_024307240.1:p.Ile609Thr, XP_047294657.1:p.Ile668Thr, XP_047294658.1:p.Ile668Thr, XP_047294659.1:p.Ile632Thr, XP_047294660.1:p.Ile462Thr

Select item 145876366617.

rs1458763666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49294024 (GRCh38)
19:49797281 (GRCh37)
Canonical SPDI:: NC_000019.10:49294023:C:T
Gene:: SLC6A16 (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)
HGVS:: NC_000019.10:g.49294024C>T, NC_000019.9:g.49797281C>T, XM_005258820.4:c.1421G>A, XM_005258820.3:c.1421G>A, XM_005258820.2:c.1421G>A, XM_005258820.1:c.1421G>A, XM_006723168.4:c.1421G>A, XM_006723168.3:c.1421G>A, XM_006723168.2:c.1421G>A, XM_006723168.1:c.1421G>A, XM_011526859.4:c.1310G>A, XM_011526859.3:c.1556G>A, XM_011526859.2:c.1556G>A, XM_011526859.1:c.1310G>A, XM_011526861.4:c.980G>A, XM_011526861.3:c.980G>A, XM_011526861.2:c.980G>A, XM_011526861.1:c.980G>A, XM_011526860.3:c.1487G>A, XM_011526860.2:c.1487G>A, XM_011526860.1:c.1487G>A, NM_014037.3:c.1421G>A, NM_014037.2:c.1421G>A, XM_024451472.2:c.1421G>A, XM_024451472.1:c.1421G>A, XM_047438701.1:c.1598G>A, XM_047438702.1:c.1598G>A, XM_047438703.1:c.1490G>A, XM_047438704.1:c.980G>A, XP_005258877.1:p.Ser474Asn, XP_006723231.1:p.Ser474Asn, XP_011525161.3:p.Ser437Asn, XP_011525163.1:p.Ser327Asn, XP_011525162.1:p.Ser496Asn, NP_054756.2:p.Ser474Asn, XP_024307240.1:p.Ser474Asn, XP_047294657.1:p.Ser533Asn, XP_047294658.1:p.Ser533Asn, XP_047294659.1:p.Ser497Asn, XP_047294660.1:p.Ser327Asn

Select item 145795283318.

rs1457952833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49294553 (GRCh38)
19:49797810 (GRCh37)
Canonical SPDI:: NC_000019.10:49294552:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49294553C>T, NC_000019.9:g.49797810C>T, XM_005258820.4:c.1230G>A, XM_005258820.3:c.1230G>A, XM_005258820.2:c.1230G>A, XM_005258820.1:c.1230G>A, XM_006723168.4:c.1230G>A, XM_006723168.3:c.1230G>A, XM_006723168.2:c.1230G>A, XM_006723168.1:c.1230G>A, XM_011526859.4:c.1119G>A, XM_011526859.3:c.1365G>A, XM_011526859.2:c.1365G>A, XM_011526859.1:c.1119G>A, XM_011526861.4:c.789G>A, XM_011526861.3:c.789G>A, XM_011526861.2:c.789G>A, XM_011526861.1:c.789G>A, XM_011526860.3:c.1296G>A, XM_011526860.2:c.1296G>A, XM_011526860.1:c.1296G>A, NM_014037.3:c.1230G>A, NM_014037.2:c.1230G>A, XM_024451472.2:c.1230G>A, XM_024451472.1:c.1230G>A, XM_047438701.1:c.1407G>A, XM_047438702.1:c.1407G>A, XM_047438703.1:c.1299G>A, XM_047438704.1:c.789G>A

Select item 145643087519.

rs1456430875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49311031 (GRCh38)
19:49814288 (GRCh37)
Canonical SPDI:: NC_000019.10:49311030:C:A
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49311031C>A, NC_000019.9:g.49814288C>A, XM_005258820.4:c.317G>T, XM_005258820.3:c.317G>T, XM_005258820.2:c.317G>T, XM_005258820.1:c.317G>T, XM_006723168.4:c.317G>T, XM_006723168.3:c.317G>T, XM_006723168.2:c.317G>T, XM_006723168.1:c.317G>T, XM_011526859.4:c.317G>T, XM_011526859.3:c.563G>T, XM_011526859.2:c.563G>T, XM_011526859.1:c.317G>T, XM_011526861.4:c.-58G>T, XM_011526861.3:c.-58G>T, XM_011526861.2:c.-58G>T, XM_011526861.1:c.-58G>T, XM_011526860.3:c.383G>T, XM_011526860.2:c.383G>T, XM_011526860.1:c.383G>T, NM_014037.3:c.317G>T, NM_014037.2:c.317G>T, XM_024451472.2:c.317G>T, XM_024451472.1:c.317G>T, XM_047438701.1:c.494G>T, XM_047438702.1:c.494G>T, XM_047438703.1:c.386G>T, XP_005258877.1:p.Trp106Leu, XP_006723231.1:p.Trp106Leu, XP_011525161.3:p.Trp106Leu, XP_011525162.1:p.Trp128Leu, NP_054756.2:p.Trp106Leu, XP_024307240.1:p.Trp106Leu, XP_047294657.1:p.Trp165Leu, XP_047294658.1:p.Trp165Leu, XP_047294659.1:p.Trp129Leu

Select item 145561090920.

rs1455610909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49290760 (GRCh38)
19:49794017 (GRCh37)
Canonical SPDI:: NC_000019.10:49290759:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.49290760C>T, NC_000019.9:g.49794017C>T, XM_005258820.4:c.1786G>A, XM_005258820.3:c.1786G>A, XM_005258820.2:c.1786G>A, XM_005258820.1:c.1786G>A, XM_006723168.4:c.1786G>A, XM_006723168.3:c.1786G>A, XM_006723168.2:c.1786G>A, XM_006723168.1:c.1786G>A, XM_011526859.4:c.1675G>A, XM_011526859.3:c.1921G>A, XM_011526859.2:c.1921G>A, XM_011526859.1:c.1675G>A, XM_011526861.4:c.1345G>A, XM_011526861.3:c.1345G>A, XM_011526861.2:c.1345G>A, XM_011526861.1:c.1345G>A, XM_011526860.3:c.1852G>A, XM_011526860.2:c.1852G>A, XM_011526860.1:c.1852G>A, NM_014037.3:c.1786G>A, NM_014037.2:c.1786G>A, XM_024451472.2:c.1786G>A, XM_024451472.1:c.1786G>A, XM_047438701.1:c.1963G>A, XM_047438702.1:c.1963G>A, XM_047438703.1:c.1855G>A, XM_047438704.1:c.1345G>A, XP_005258877.1:p.Ala596Thr, XP_006723231.1:p.Ala596Thr, XP_011525161.3:p.Ala559Thr, XP_011525163.1:p.Ala449Thr, XP_011525162.1:p.Ala618Thr, NP_054756.2:p.Ala596Thr, XP_024307240.1:p.Ala596Thr, XP_047294657.1:p.Ala655Thr, XP_047294658.1:p.Ala655Thr, XP_047294659.1:p.Ala619Thr, XP_047294660.1:p.Ala449Thr

<< First< Prev

Page of 36

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 704

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity