SNP Links for Protein (Select 11415038) - SNP

Links from Protein

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Select item 14908120851.

rs1490812085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:160348627 (GRCh38)
6:160769659 (GRCh37)
Canonical SPDI:: NC_000006.12:160348626:G:A
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.160348627G>A, NC_000006.11:g.160769659G>A, XM_005267106.6:c.-396G>A, XM_005267107.4:c.208G>A, XM_005267107.3:c.208G>A, XM_005267107.2:c.208G>A, XM_005267107.1:c.208G>A, NM_021977.4:c.208G>A, NM_021977.3:c.208G>A, XM_047419261.1:c.208G>A, XM_047419262.1:c.208G>A, XP_005267164.1:p.Glu70Lys, NP_068812.1:p.Glu70Lys, XP_047275217.1:p.Glu70Lys, XP_047275218.1:p.Glu70Lys

Select item 14894701682.

rs1489470168 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:160447779 (GRCh38)
6:160868812 (GRCh37)
Canonical SPDI:: NC_000006.12:160447779::T
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.160447779_160447780insT, NC_000006.11:g.160868811_160868812insT, XM_005267106.6:c.1178_1179insT, XM_005267106.5:c.1178_1179insT, XM_005267106.4:c.1178_1179insT, XM_005267106.3:c.1178_1179insT, XM_005267106.2:c.1178_1179insT, XM_005267106.1:c.1178_1179insT, NM_021977.4:c.1571_1572insT, NM_021977.3:c.1571_1572insT, XM_011536076.4:c.1115_1116insT, XM_011536076.3:c.1115_1116insT, XM_011536076.2:c.1115_1116insT, XM_011536076.1:c.1115_1116insT, XM_017011203.3:c.1115_1116insT, XM_017011203.2:c.1115_1116insT, XM_017011203.1:c.1115_1116insT, XM_011536075.3:c.1115_1116insT, XM_011536075.2:c.1115_1116insT, XM_011536075.1:c.1115_1116insT, XP_005267163.1:p.Pro395fs, NP_068812.1:p.Pro526fs, XP_011534378.1:p.Pro374fs, XP_016866692.1:p.Pro374fs, XP_011534377.1:p.Pro374fs

Select item 14889919463.

rs1488991946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160408777 (GRCh38)
6:160829809 (GRCh37)
Canonical SPDI:: NC_000006.12:160408776:A:G
Gene:: SLC22A3 (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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160408777A>G, NC_000006.11:g.160829809A>G, XM_005267106.6:c.320A>G, XM_005267106.5:c.320A>G, XM_005267106.4:c.320A>G, XM_005267106.3:c.320A>G, XM_005267106.2:c.320A>G, XM_005267106.1:c.320A>G, XM_005267107.4:c.713A>G, XM_005267107.3:c.713A>G, XM_005267107.2:c.713A>G, XM_005267107.1:c.713A>G, NM_021977.4:c.713A>G, NM_021977.3:c.713A>G, XM_011536076.4:c.257A>G, XM_011536076.3:c.257A>G, XM_011536076.2:c.257A>G, XM_011536076.1:c.257A>G, XM_017011203.3:c.257A>G, XM_017011203.2:c.257A>G, XM_017011203.1:c.257A>G, XM_011536075.3:c.257A>G, XM_011536075.2:c.257A>G, XM_011536075.1:c.257A>G, XM_047419261.1:c.713A>G, XM_047419262.1:c.713A>G, XP_005267163.1:p.Gln107Arg, XP_005267164.1:p.Gln238Arg, NP_068812.1:p.Gln238Arg, XP_011534378.1:p.Gln86Arg, XP_016866692.1:p.Gln86Arg, XP_011534377.1:p.Gln86Arg, XP_047275217.1:p.Gln238Arg, XP_047275218.1:p.Gln238Arg

Select item 14877979994.

rs1487797999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:160442797 (GRCh38)
6:160863829 (GRCh37)
Canonical SPDI:: NC_000006.12:160442796:G:A
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_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_000006.12:g.160442797G>A, NC_000006.11:g.160863829G>A, XM_005267106.6:c.932G>A, XM_005267106.5:c.932G>A, XM_005267106.4:c.932G>A, XM_005267106.3:c.932G>A, XM_005267106.2:c.932G>A, XM_005267106.1:c.932G>A, NM_021977.4:c.1325G>A, NM_021977.3:c.1325G>A, XM_011536076.4:c.869G>A, XM_011536076.3:c.869G>A, XM_011536076.2:c.869G>A, XM_011536076.1:c.869G>A, XM_017011203.3:c.869G>A, XM_017011203.2:c.869G>A, XM_017011203.1:c.869G>A, XM_011536075.3:c.869G>A, XM_011536075.2:c.869G>A, XM_011536075.1:c.869G>A, XM_047419262.1:c.*31G>A, XP_005267163.1:p.Gly311Glu, NP_068812.1:p.Gly442Glu, XP_011534378.1:p.Gly290Glu, XP_016866692.1:p.Gly290Glu, XP_011534377.1:p.Gly290Glu

Select item 14873898795.

rs1487389879 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAGCTCTCAGCGCTATGCTATGCGCT [Show Flanks]
Chromosome:: 6:160348758 (GRCh38)
6:160769791 (GRCh37)
Canonical SPDI:: NC_000006.12:160348758::TAGCTCTCAGCGCTATGCTATGCGCT
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TAGCTCTCAGCGCTATGCTATGCGCT=0.000007/1 (GnomAD)
TAGCTCTCAGCGCTATGCTATGCGCT=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.160348758_160348759insTAGCTCTCAGCGCTATGCTATGCGCT, NC_000006.11:g.160769790_160769791insTAGCTCTCAGCGCTATGCTATGCGCT, XM_005267106.6:c.-265_-264insTAGCTCTCAGCGCTATGCTATGCGCT, XM_005267107.4:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, XM_005267107.3:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, XM_005267107.2:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, XM_005267107.1:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, NM_021977.4:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, NM_021977.3:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, XM_047419261.1:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, XM_047419262.1:c.339_340insTAGCTCTCAGCGCTATGCTATGCGCT, XP_005267164.1:p.Leu114Ter, NP_068812.1:p.Leu114Ter, XP_047275217.1:p.Leu114Ter, XP_047275218.1:p.Leu114Ter

Select item 14863420806.

rs1486342080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160348533 (GRCh38)
6:160769565 (GRCh37)
Canonical SPDI:: NC_000006.12:160348532:C:T
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160348533C>T, NC_000006.11:g.160769565C>T, XM_005267106.6:c.-490C>T, XM_005267107.4:c.114C>T, XM_005267107.3:c.114C>T, XM_005267107.2:c.114C>T, XM_005267107.1:c.114C>T, NM_021977.4:c.114C>T, NM_021977.3:c.114C>T, XM_047419261.1:c.114C>T, XM_047419262.1:c.114C>T

Select item 14861957867.

rs1486195786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:160437115 (GRCh38)
6:160858147 (GRCh37)
Canonical SPDI:: NC_000006.12:160437114:T:G
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.160437115T>G, NC_000006.11:g.160858147T>G, XM_005267106.6:c.799T>G, XM_005267106.5:c.799T>G, XM_005267106.4:c.799T>G, XM_005267106.3:c.799T>G, XM_005267106.2:c.799T>G, XM_005267106.1:c.799T>G, NM_021977.4:c.1192T>G, NM_021977.3:c.1192T>G, XM_011536076.4:c.736T>G, XM_011536076.3:c.736T>G, XM_011536076.2:c.736T>G, XM_011536076.1:c.736T>G, XM_017011203.3:c.736T>G, XM_017011203.2:c.736T>G, XM_017011203.1:c.736T>G, XM_011536075.3:c.736T>G, XM_011536075.2:c.736T>G, XM_011536075.1:c.736T>G, XM_047419261.1:c.1094T>G, XP_005267163.1:p.Leu267Val, NP_068812.1:p.Leu398Val, XP_011534378.1:p.Leu246Val, XP_016866692.1:p.Leu246Val, XP_011534377.1:p.Leu246Val, XP_047275217.1:p.Leu365Arg

Select item 14840657088.

rs1484065708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:160348614 (GRCh38)
6:160769646 (GRCh37)
Canonical SPDI:: NC_000006.12:160348613:G:A
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,stop_gained,genic_upstream_transcript_variant
HGVS:: NC_000006.12:g.160348614G>A, NC_000006.11:g.160769646G>A, XM_005267106.6:c.-409G>A, XM_005267107.4:c.195G>A, XM_005267107.3:c.195G>A, XM_005267107.2:c.195G>A, XM_005267107.1:c.195G>A, NM_021977.4:c.195G>A, NM_021977.3:c.195G>A, XM_047419261.1:c.195G>A, XM_047419262.1:c.195G>A, XP_005267164.1:p.Trp65Ter, NP_068812.1:p.Trp65Ter, XP_047275217.1:p.Trp65Ter, XP_047275218.1:p.Trp65Ter

Select item 14831067569.

rs1483106756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:160348688 (GRCh38)
6:160769720 (GRCh37)
Canonical SPDI:: NC_000006.12:160348687:G:A
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160348688G>A, NC_000006.11:g.160769720G>A, XM_005267106.6:c.-335G>A, XM_005267107.4:c.269G>A, XM_005267107.3:c.269G>A, XM_005267107.2:c.269G>A, XM_005267107.1:c.269G>A, NM_021977.4:c.269G>A, NM_021977.3:c.269G>A, XM_047419261.1:c.269G>A, XM_047419262.1:c.269G>A, XP_005267164.1:p.Cys90Tyr, NP_068812.1:p.Cys90Tyr, XP_047275217.1:p.Cys90Tyr, XP_047275218.1:p.Cys90Tyr

Select item 147965604610.

rs1479656046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160348706 (GRCh38)
6:160769738 (GRCh37)
Canonical SPDI:: NC_000006.12:160348705:A:G
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000564/1 (Korea1K)
G=0.002063/6 (KOREAN)
HGVS:: NC_000006.12:g.160348706A>G, NC_000006.11:g.160769738A>G, XM_005267106.6:c.-317A>G, XM_005267107.4:c.287A>G, XM_005267107.3:c.287A>G, XM_005267107.2:c.287A>G, XM_005267107.1:c.287A>G, NM_021977.4:c.287A>G, NM_021977.3:c.287A>G, XM_047419261.1:c.287A>G, XM_047419262.1:c.287A>G, XP_005267164.1:p.Glu96Gly, NP_068812.1:p.Glu96Gly, XP_047275217.1:p.Glu96Gly, XP_047275218.1:p.Glu96Gly

Select item 147841611511.

rs1478416115 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 6:160447790 (GRCh38)
6:160868822 (GRCh37)
Canonical SPDI:: NC_000006.12:160447787:AGACAG:AG
Gene:: SLC22A3 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.160447790_160447793del, NC_000006.11:g.160868822_160868825del, XM_005267106.6:c.1189_1192del, XM_005267106.5:c.1189_1192del, XM_005267106.4:c.1189_1192del, XM_005267106.3:c.1189_1192del, XM_005267106.2:c.1189_1192del, XM_005267106.1:c.1189_1192del, NM_021977.4:c.1582_1585del, NM_021977.3:c.1582_1585del, XM_011536076.4:c.1126_1129del, XM_011536076.3:c.1126_1129del, XM_011536076.2:c.1126_1129del, XM_011536076.1:c.1126_1129del, XM_017011203.3:c.1126_1129del, XM_017011203.2:c.1126_1129del, XM_017011203.1:c.1126_1129del, XM_011536075.3:c.1126_1129del, XM_011536075.2:c.1126_1129del, XM_011536075.1:c.1126_1129del, XP_005267163.1:p.Thr397fs, NP_068812.1:p.Thr528fs, XP_011534378.1:p.Thr376fs, XP_016866692.1:p.Thr376fs, XP_011534377.1:p.Thr376fs

Select item 147798443312.

rs1477984433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:160348567 (GRCh38)
6:160769599 (GRCh37)
Canonical SPDI:: NC_000006.12:160348566:T:C
Gene:: SLC22A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.160348567T>C, NC_000006.11:g.160769599T>C, XM_005267106.6:c.-456T>C, XM_005267107.4:c.148T>C, XM_005267107.3:c.148T>C, XM_005267107.2:c.148T>C, XM_005267107.1:c.148T>C, NM_021977.4:c.148T>C, NM_021977.3:c.148T>C, XM_047419261.1:c.148T>C, XM_047419262.1:c.148T>C, XP_005267164.1:p.Trp50Arg, NP_068812.1:p.Trp50Arg, XP_047275217.1:p.Trp50Arg, XP_047275218.1:p.Trp50Arg

Select item 147787714213.

rs1477877142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:160348697 (GRCh38)
6:160769729 (GRCh37)
Canonical SPDI:: NC_000006.12:160348696:A:C
Gene:: SLC22A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_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_000006.12:g.160348697A>C, NC_000006.11:g.160769729A>C, XM_005267106.6:c.-326A>C, XM_005267107.4:c.278A>C, XM_005267107.3:c.278A>C, XM_005267107.2:c.278A>C, XM_005267107.1:c.278A>C, NM_021977.4:c.278A>C, NM_021977.3:c.278A>C, XM_047419261.1:c.278A>C, XM_047419262.1:c.278A>C, XP_005267164.1:p.Tyr93Ser, NP_068812.1:p.Tyr93Ser, XP_047275217.1:p.Tyr93Ser, XP_047275218.1:p.Tyr93Ser

Select item 147451124614.

rs1474511246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:160408892 (GRCh38)
6:160829924 (GRCh37)
Canonical SPDI:: NC_000006.12:160408891:G:A
Gene:: SLC22A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.160408892G>A, NC_000006.11:g.160829924G>A, XM_005267106.6:c.435G>A, XM_005267106.5:c.435G>A, XM_005267106.4:c.435G>A, XM_005267106.3:c.435G>A, XM_005267106.2:c.435G>A, XM_005267106.1:c.435G>A, XM_005267107.4:c.828G>A, XM_005267107.3:c.828G>A, XM_005267107.2:c.828G>A, XM_005267107.1:c.828G>A, NM_021977.4:c.828G>A, NM_021977.3:c.828G>A, XM_011536076.4:c.372G>A, XM_011536076.3:c.372G>A, XM_011536076.2:c.372G>A, XM_011536076.1:c.372G>A, XM_017011203.3:c.372G>A, XM_017011203.2:c.372G>A, XM_017011203.1:c.372G>A, XM_011536075.3:c.372G>A, XM_011536075.2:c.372G>A, XM_011536075.1:c.372G>A, XM_047419261.1:c.828G>A, XM_047419262.1:c.828G>A

Select item 147287668615.

rs1472876686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160407066 (GRCh38)
6:160828098 (GRCh37)
Canonical SPDI:: NC_000006.12:160407065:C:T
Gene:: SLC22A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160407066C>T, NC_000006.11:g.160828098C>T, XM_005267106.6:c.166C>T, XM_005267106.5:c.166C>T, XM_005267106.4:c.166C>T, XM_005267106.3:c.166C>T, XM_005267106.2:c.166C>T, XM_005267106.1:c.166C>T, XM_005267107.4:c.559C>T, XM_005267107.3:c.559C>T, XM_005267107.2:c.559C>T, XM_005267107.1:c.559C>T, NM_021977.4:c.559C>T, NM_021977.3:c.559C>T, XM_011536076.4:c.103C>T, XM_011536076.3:c.103C>T, XM_011536076.2:c.103C>T, XM_011536076.1:c.103C>T, XM_017011203.3:c.103C>T, XM_017011203.2:c.103C>T, XM_017011203.1:c.103C>T, XM_011536075.3:c.103C>T, XM_011536075.2:c.103C>T, XM_011536075.1:c.103C>T, XM_047419261.1:c.559C>T, XM_047419262.1:c.559C>T

Select item 147198375516.

rs1471983755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160437183 (GRCh38)
6:160858215 (GRCh37)
Canonical SPDI:: NC_000006.12:160437182:A:G
Gene:: SLC22A3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.160437183A>G, NC_000006.11:g.160858215A>G, XM_005267106.6:c.867A>G, XM_005267106.5:c.867A>G, XM_005267106.4:c.867A>G, XM_005267106.3:c.867A>G, XM_005267106.2:c.867A>G, XM_005267106.1:c.867A>G, NM_021977.4:c.1260A>G, NM_021977.3:c.1260A>G, XM_011536076.4:c.804A>G, XM_011536076.3:c.804A>G, XM_011536076.2:c.804A>G, XM_011536076.1:c.804A>G, XM_017011203.3:c.804A>G, XM_017011203.2:c.804A>G, XM_017011203.1:c.804A>G, XM_011536075.3:c.804A>G, XM_011536075.2:c.804A>G, XM_011536075.1:c.804A>G, XM_047419261.1:c.*55A>G

Select item 146960020017.

rs1469600200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:160348705 (GRCh38)
6:160769737 (GRCh37)
Canonical SPDI:: NC_000006.12:160348704:G:C
Gene:: SLC22A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.160348705G>C, NC_000006.11:g.160769737G>C, XM_005267106.6:c.-318G>C, XM_005267107.4:c.286G>C, XM_005267107.3:c.286G>C, XM_005267107.2:c.286G>C, XM_005267107.1:c.286G>C, NM_021977.4:c.286G>C, NM_021977.3:c.286G>C, XM_047419261.1:c.286G>C, XM_047419262.1:c.286G>C, XP_005267164.1:p.Glu96Gln, NP_068812.1:p.Glu96Gln, XP_047275217.1:p.Glu96Gln, XP_047275218.1:p.Glu96Gln

Select item 146884329118.

rs1468843291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160443679 (GRCh38)
6:160864711 (GRCh37)
Canonical SPDI:: NC_000006.12:160443678:A:G
Gene:: SLC22A3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.160443679A>G, NC_000006.11:g.160864711A>G, XM_005267106.6:c.1054A>G, XM_005267106.5:c.1054A>G, XM_005267106.4:c.1054A>G, XM_005267106.3:c.1054A>G, XM_005267106.2:c.1054A>G, XM_005267106.1:c.1054A>G, NM_021977.4:c.1447A>G, NM_021977.3:c.1447A>G, XM_011536076.4:c.991A>G, XM_011536076.3:c.991A>G, XM_011536076.2:c.991A>G, XM_011536076.1:c.991A>G, XM_017011203.3:c.991A>G, XM_017011203.2:c.991A>G, XM_017011203.1:c.991A>G, XM_011536075.3:c.991A>G, XM_011536075.2:c.991A>G, XM_011536075.1:c.991A>G, XP_005267163.1:p.Ile352Val, NP_068812.1:p.Ile483Val, XP_011534378.1:p.Ile331Val, XP_016866692.1:p.Ile331Val, XP_011534377.1:p.Ile331Val

Select item 146693974419.

rs1466939744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:160408791 (GRCh38)
6:160829823 (GRCh37)
Canonical SPDI:: NC_000006.12:160408790:G:A
Gene:: SLC22A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.160408791G>A, NC_000006.11:g.160829823G>A, XM_005267106.6:c.334G>A, XM_005267106.5:c.334G>A, XM_005267106.4:c.334G>A, XM_005267106.3:c.334G>A, XM_005267106.2:c.334G>A, XM_005267106.1:c.334G>A, XM_005267107.4:c.727G>A, XM_005267107.3:c.727G>A, XM_005267107.2:c.727G>A, XM_005267107.1:c.727G>A, NM_021977.4:c.727G>A, NM_021977.3:c.727G>A, XM_011536076.4:c.271G>A, XM_011536076.3:c.271G>A, XM_011536076.2:c.271G>A, XM_011536076.1:c.271G>A, XM_017011203.3:c.271G>A, XM_017011203.2:c.271G>A, XM_017011203.1:c.271G>A, XM_011536075.3:c.271G>A, XM_011536075.2:c.271G>A, XM_011536075.1:c.271G>A, XM_047419261.1:c.727G>A, XM_047419262.1:c.727G>A, XP_005267163.1:p.Gly112Arg, XP_005267164.1:p.Gly243Arg, NP_068812.1:p.Gly243Arg, XP_011534378.1:p.Gly91Arg, XP_016866692.1:p.Gly91Arg, XP_011534377.1:p.Gly91Arg, XP_047275217.1:p.Gly243Arg, XP_047275218.1:p.Gly243Arg

Select item 146480771220.

rs1464807712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:160447792 (GRCh38)
6:160868824 (GRCh37)
Canonical SPDI:: NC_000006.12:160447791:A:T
Gene:: SLC22A3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.160447792A>T, NC_000006.11:g.160868824A>T, XM_005267106.6:c.1191A>T, XM_005267106.5:c.1191A>T, XM_005267106.4:c.1191A>T, XM_005267106.3:c.1191A>T, XM_005267106.2:c.1191A>T, XM_005267106.1:c.1191A>T, NM_021977.4:c.1584A>T, NM_021977.3:c.1584A>T, XM_011536076.4:c.1128A>T, XM_011536076.3:c.1128A>T, XM_011536076.2:c.1128A>T, XM_011536076.1:c.1128A>T, XM_017011203.3:c.1128A>T, XM_017011203.2:c.1128A>T, XM_017011203.1:c.1128A>T, XM_011536075.3:c.1128A>T, XM_011536075.2:c.1128A>T, XM_011536075.1:c.1128A>T

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