SNP Links for Protein (Select 169790839) - SNP

Links from Protein

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Select item 14886653551.

rs1488665355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36686104 (GRCh38)
5:36686206 (GRCh37)
Canonical SPDI:: NC_000005.10:36686103:C:T
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.36686104C>T, NC_000005.9:g.36686206C>T, NG_015890.1:g.84750C>T, NM_004172.5:c.1464C>T, NM_004172.4:c.1464C>T, NM_001166695.3:c.1329C>T, NM_001166695.2:c.1329C>T, NM_001166695.1:c.1329C>T, NM_001289939.2:c.1326C>T, NM_001289939.1:c.1326C>T, NM_001289940.2:c.1128C>T, NM_001289940.1:c.1128C>T, XM_005248342.4:c.1464C>T, XM_005248342.3:c.1464C>T, XM_005248342.2:c.1464C>T, XM_005248342.1:c.1464C>T, XM_047417539.1:c.1329C>T, XM_047417540.1:c.1143C>T

Select item 14876968342.

rs1487696834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36679781 (GRCh38)
5:36679883 (GRCh37)
Canonical SPDI:: NC_000005.10:36679780:T:C
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.36679781T>C, NC_000005.9:g.36679883T>C, NG_015890.1:g.78427T>C, NM_004172.5:c.1015T>C, NM_004172.4:c.1015T>C, NM_001166695.3:c.1015T>C, NM_001166695.2:c.1015T>C, NM_001166695.1:c.1015T>C, NM_001289939.2:c.877T>C, NM_001289939.1:c.877T>C, NM_001289940.2:c.679T>C, NM_001289940.1:c.679T>C, XM_005248342.4:c.1015T>C, XM_005248342.3:c.1015T>C, XM_005248342.2:c.1015T>C, XM_005248342.1:c.1015T>C, XM_047417539.1:c.1015T>C, XM_047417540.1:c.694T>C

Select item 14803051203.

rs1480305120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36671231 (GRCh38)
5:36671333 (GRCh37)
Canonical SPDI:: NC_000005.10:36671230:C:T
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_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_000005.10:g.36671231C>T, NC_000005.9:g.36671333C>T, NG_015890.1:g.69877C>T, NM_004172.5:c.522C>T, NM_004172.4:c.522C>T, NM_001166695.3:c.522C>T, NM_001166695.2:c.522C>T, NM_001166695.1:c.522C>T, NM_001289939.2:c.384C>T, NM_001289939.1:c.384C>T, NM_001289940.2:c.522C>T, NM_001289940.1:c.522C>T, XM_005248342.4:c.522C>T, XM_005248342.3:c.522C>T, XM_005248342.2:c.522C>T, XM_005248342.1:c.522C>T, XM_047417539.1:c.522C>T, XM_047417540.1:c.201C>T

Select item 14768863424.

rs1476886342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36686236 (GRCh38)
5:36686338 (GRCh37)
Canonical SPDI:: NC_000005.10:36686235:T:C
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.36686236T>C, NC_000005.9:g.36686338T>C, NG_015890.1:g.84882T>C, NM_004172.5:c.1596T>C, NM_004172.4:c.1596T>C, NM_001166695.3:c.1461T>C, NM_001166695.2:c.1461T>C, NM_001166695.1:c.1461T>C, NM_001289939.2:c.1458T>C, NM_001289939.1:c.1458T>C, NM_001289940.2:c.1260T>C, NM_001289940.1:c.1260T>C, XM_005248342.4:c.1596T>C, XM_005248342.3:c.1596T>C, XM_005248342.2:c.1596T>C, XM_005248342.1:c.1596T>C, XM_047417539.1:c.1461T>C, XM_047417540.1:c.1275T>C

Select item 14587123495.

rs1458712349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36677112 (GRCh38)
5:36677214 (GRCh37)
Canonical SPDI:: NC_000005.10:36677111:A:G
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36677112A>G, NC_000005.9:g.36677214A>G, NG_015890.1:g.75758A>G, NM_004172.5:c.788A>G, NM_004172.4:c.788A>G, NM_001166695.3:c.788A>G, NM_001166695.2:c.788A>G, NM_001166695.1:c.788A>G, NM_001289939.2:c.650A>G, NM_001289939.1:c.650A>G, XM_005248342.4:c.788A>G, XM_005248342.3:c.788A>G, XM_005248342.2:c.788A>G, XM_005248342.1:c.788A>G, XM_047417539.1:c.788A>G, XM_047417540.1:c.467A>G, NP_004163.3:p.Gln263Arg, NP_001160167.1:p.Gln263Arg, NP_001276868.1:p.Gln217Arg, XP_005248399.1:p.Gln263Arg, XP_047273495.1:p.Gln263Arg, XP_047273496.1:p.Gln156Arg

Select item 14548996456.

rs1454899645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36629541 (GRCh38)
5:36629643 (GRCh37)
Canonical SPDI:: NC_000005.10:36629540:G:A
Gene:: SLC1A3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.36629541G>A, NC_000005.9:g.36629643G>A, NG_015890.1:g.28187G>A, NM_004172.5:c.273G>A, NM_004172.4:c.273G>A, NM_001166695.3:c.273G>A, NM_001166695.2:c.273G>A, NM_001166695.1:c.273G>A, NM_001289940.2:c.273G>A, NM_001289940.1:c.273G>A, XM_005248342.4:c.273G>A, XM_005248342.3:c.273G>A, XM_005248342.2:c.273G>A, XM_005248342.1:c.273G>A, XM_047417539.1:c.273G>A, XM_047417540.1:c.-151G>A, NP_004163.3:p.Met91Ile, NP_001160167.1:p.Met91Ile, NP_001276869.1:p.Met91Ile, XP_005248399.1:p.Met91Ile, XP_047273495.1:p.Met91Ile

Select item 14541535137.

rs1454153513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36686105 (GRCh38)
5:36686207 (GRCh37)
Canonical SPDI:: NC_000005.10:36686104:C:T
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36686105C>T, NC_000005.9:g.36686207C>T, NG_015890.1:g.84751C>T, NM_004172.5:c.1465C>T, NM_004172.4:c.1465C>T, NM_001166695.3:c.1330C>T, NM_001166695.2:c.1330C>T, NM_001166695.1:c.1330C>T, NM_001289939.2:c.1327C>T, NM_001289939.1:c.1327C>T, NM_001289940.2:c.1129C>T, NM_001289940.1:c.1129C>T, XM_005248342.4:c.1465C>T, XM_005248342.3:c.1465C>T, XM_005248342.2:c.1465C>T, XM_005248342.1:c.1465C>T, XM_047417539.1:c.1330C>T, XM_047417540.1:c.1144C>T

Select item 14520550728.

rs1452055072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36677041 (GRCh38)
5:36677143 (GRCh37)
Canonical SPDI:: NC_000005.10:36677040:T:C
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36677041T>C, NC_000005.9:g.36677143T>C, NG_015890.1:g.75687T>C, NM_004172.5:c.717T>C, NM_004172.4:c.717T>C, NM_001166695.3:c.717T>C, NM_001166695.2:c.717T>C, NM_001166695.1:c.717T>C, NM_001289939.2:c.579T>C, NM_001289939.1:c.579T>C, XM_005248342.4:c.717T>C, XM_005248342.3:c.717T>C, XM_005248342.2:c.717T>C, XM_005248342.1:c.717T>C, XM_047417539.1:c.717T>C, XM_047417540.1:c.396T>C

Select item 14516934279.

rs1451693427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36679691 (GRCh38)
5:36679793 (GRCh37)
Canonical SPDI:: NC_000005.10:36679690:G:A
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.36679691G>A, NC_000005.9:g.36679793G>A, NG_015890.1:g.78337G>A, NM_004172.5:c.925G>A, NM_004172.4:c.925G>A, NM_001166695.3:c.925G>A, NM_001166695.2:c.925G>A, NM_001166695.1:c.925G>A, NM_001289939.2:c.787G>A, NM_001289939.1:c.787G>A, NM_001289940.2:c.589G>A, NM_001289940.1:c.589G>A, XM_005248342.4:c.925G>A, XM_005248342.3:c.925G>A, XM_005248342.2:c.925G>A, XM_005248342.1:c.925G>A, XM_047417539.1:c.925G>A, XM_047417540.1:c.604G>A, NP_004163.3:p.Val309Met, NP_001160167.1:p.Val309Met, NP_001276868.1:p.Val263Met, NP_001276869.1:p.Val197Met, XP_005248399.1:p.Val309Met, XP_047273495.1:p.Val309Met, XP_047273496.1:p.Val202Met

Select item 144902257010.

rs1449022570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36686123 (GRCh38)
5:36686225 (GRCh37)
Canonical SPDI:: NC_000005.10:36686122:G:A
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.36686123G>A, NC_000005.9:g.36686225G>A, NG_015890.1:g.84769G>A, NM_004172.5:c.1483G>A, NM_004172.4:c.1483G>A, NM_001166695.3:c.1348G>A, NM_001166695.2:c.1348G>A, NM_001166695.1:c.1348G>A, NM_001289939.2:c.1345G>A, NM_001289939.1:c.1345G>A, NM_001289940.2:c.1147G>A, NM_001289940.1:c.1147G>A, XM_005248342.4:c.1483G>A, XM_005248342.3:c.1483G>A, XM_005248342.2:c.1483G>A, XM_005248342.1:c.1483G>A, XM_047417539.1:c.1348G>A, XM_047417540.1:c.1162G>A, NP_004163.3:p.Glu495Lys, NP_001160167.1:p.Glu450Lys, NP_001276868.1:p.Glu449Lys, NP_001276869.1:p.Glu383Lys, XP_005248399.1:p.Glu495Lys, XP_047273495.1:p.Glu450Lys, XP_047273496.1:p.Glu388Lys

Select item 144700781111.

rs1447007811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:36629514 (GRCh38)
5:36629616 (GRCh37)
Canonical SPDI:: NC_000005.10:36629513:C:G,NC_000005.10:36629513:C:T
Gene:: SLC1A3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36629514C>G, NC_000005.10:g.36629514C>T, NC_000005.9:g.36629616C>G, NC_000005.9:g.36629616C>T, NG_015890.1:g.28160C>G, NG_015890.1:g.28160C>T, NM_004172.5:c.246C>G, NM_004172.5:c.246C>T, NM_004172.4:c.246C>G, NM_004172.4:c.246C>T, NM_001166695.3:c.246C>G, NM_001166695.3:c.246C>T, NM_001166695.2:c.246C>G, NM_001166695.2:c.246C>T, NM_001166695.1:c.246C>G, NM_001166695.1:c.246C>T, NM_001289940.2:c.246C>G, NM_001289940.2:c.246C>T, NM_001289940.1:c.246C>G, NM_001289940.1:c.246C>T, XM_005248342.4:c.246C>G, XM_005248342.4:c.246C>T, XM_005248342.3:c.246C>G, XM_005248342.3:c.246C>T, XM_005248342.2:c.246C>G, XM_005248342.2:c.246C>T, XM_005248342.1:c.246C>G, XM_005248342.1:c.246C>T, XM_047417539.1:c.246C>G, XM_047417539.1:c.246C>T, XM_047417540.1:c.-178C>G, XM_047417540.1:c.-178C>T

Select item 144668714812.

rs1446687148 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:36680566 (GRCh38)
5:36680669 (GRCh37)
Canonical SPDI:: NC_000005.10:36680566:TT:TTT
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36680568dup, NC_000005.9:g.36680670dup, NG_015890.1:g.79214dup, NM_004172.5:c.1268dup, NM_004172.4:c.1268dup, NM_001166695.3:c.1268dup, NM_001166695.2:c.1268dup, NM_001166695.1:c.1268dup, NM_001289939.2:c.1130dup, NM_001289939.1:c.1130dup, NM_001289940.2:c.932dup, NM_001289940.1:c.932dup, XM_005248342.4:c.1268dup, XM_005248342.3:c.1268dup, XM_005248342.2:c.1268dup, XM_005248342.1:c.1268dup, XM_047417539.1:c.1268dup, XM_047417540.1:c.947dup, NP_004163.3:p.Gly424fs, NP_001160167.1:p.Gly424fs, NP_001276868.1:p.Gly378fs, NP_001276869.1:p.Gly312fs, XP_005248399.1:p.Gly424fs, XP_047273495.1:p.Gly424fs, XP_047273496.1:p.Gly317fs

Select item 144592715013.

rs1445927150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:36671174 (GRCh38)
5:36671276 (GRCh37)
Canonical SPDI:: NC_000005.10:36671173:G:T
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: intron_variant,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 (TOPMED)
HGVS:: NC_000005.10:g.36671174G>T, NC_000005.9:g.36671276G>T, NG_015890.1:g.69820G>T, NM_004172.5:c.465G>T, NM_004172.4:c.465G>T, NM_001166695.3:c.465G>T, NM_001166695.2:c.465G>T, NM_001166695.1:c.465G>T, NM_001289939.2:c.327G>T, NM_001289939.1:c.327G>T, NM_001289940.2:c.465G>T, NM_001289940.1:c.465G>T, XM_005248342.4:c.465G>T, XM_005248342.3:c.465G>T, XM_005248342.2:c.465G>T, XM_005248342.1:c.465G>T, XM_047417539.1:c.465G>T, XM_047417540.1:c.144G>T, NP_004163.3:p.Met155Ile, NP_001160167.1:p.Met155Ile, NP_001276868.1:p.Met109Ile, NP_001276869.1:p.Met155Ile, XP_005248399.1:p.Met155Ile, XP_047273495.1:p.Met155Ile, XP_047273496.1:p.Met48Ile

Select item 144331840114.

rs1443318401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36683878 (GRCh38)
5:36683980 (GRCh37)
Canonical SPDI:: NC_000005.10:36683877:C:T
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.36683878C>T, NC_000005.9:g.36683980C>T, NG_015890.1:g.82524C>T, NM_004172.5:c.1304C>T, NM_004172.4:c.1304C>T, NM_001289939.2:c.1166C>T, NM_001289939.1:c.1166C>T, NM_001289940.2:c.968C>T, NM_001289940.1:c.968C>T, XM_005248342.4:c.1304C>T, XM_005248342.3:c.1304C>T, XM_005248342.2:c.1304C>T, XM_005248342.1:c.1304C>T, XM_047417540.1:c.983C>T, NP_004163.3:p.Ala435Val, NP_001276868.1:p.Ala389Val, NP_001276869.1:p.Ala323Val, XP_005248399.1:p.Ala435Val, XP_047273496.1:p.Ala328Val

Select item 144253053615.

rs1442530536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:36671193 (GRCh38)
5:36671295 (GRCh37)
Canonical SPDI:: NC_000005.10:36671192:G:A,NC_000005.10:36671192:G:T
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36671193G>A, NC_000005.10:g.36671193G>T, NC_000005.9:g.36671295G>A, NC_000005.9:g.36671295G>T, NG_015890.1:g.69839G>A, NG_015890.1:g.69839G>T, NM_004172.5:c.484G>A, NM_004172.5:c.484G>T, NM_004172.4:c.484G>A, NM_004172.4:c.484G>T, NM_001166695.3:c.484G>A, NM_001166695.3:c.484G>T, NM_001166695.2:c.484G>A, NM_001166695.2:c.484G>T, NM_001166695.1:c.484G>A, NM_001166695.1:c.484G>T, NM_001289939.2:c.346G>A, NM_001289939.2:c.346G>T, NM_001289939.1:c.346G>A, NM_001289939.1:c.346G>T, NM_001289940.2:c.484G>A, NM_001289940.2:c.484G>T, NM_001289940.1:c.484G>A, NM_001289940.1:c.484G>T, XM_005248342.4:c.484G>A, XM_005248342.4:c.484G>T, XM_005248342.3:c.484G>A, XM_005248342.3:c.484G>T, XM_005248342.2:c.484G>A, XM_005248342.2:c.484G>T, XM_005248342.1:c.484G>A, XM_005248342.1:c.484G>T, XM_047417539.1:c.484G>A, XM_047417539.1:c.484G>T, XM_047417540.1:c.163G>A, XM_047417540.1:c.163G>T, NP_004163.3:p.Val162Ile, NP_004163.3:p.Val162Leu, NP_001160167.1:p.Val162Ile, NP_001160167.1:p.Val162Leu, NP_001276868.1:p.Val116Ile, NP_001276868.1:p.Val116Leu, NP_001276869.1:p.Val162Ile, NP_001276869.1:p.Val162Leu, XP_005248399.1:p.Val162Ile, XP_005248399.1:p.Val162Leu, XP_047273495.1:p.Val162Ile, XP_047273495.1:p.Val162Leu, XP_047273496.1:p.Val55Ile, XP_047273496.1:p.Val55Leu

Select item 143856513316.

rs1438565133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:36674078 (GRCh38)
5:36674180 (GRCh37)
Canonical SPDI:: NC_000005.10:36674077:C:G
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36674078C>G, NC_000005.9:g.36674180C>G, NG_015890.1:g.72724C>G, NM_004172.5:c.554C>G, NM_004172.4:c.554C>G, NM_001166695.3:c.554C>G, NM_001166695.2:c.554C>G, NM_001166695.1:c.554C>G, NM_001289939.2:c.416C>G, NM_001289939.1:c.416C>G, XM_005248342.4:c.554C>G, XM_005248342.3:c.554C>G, XM_005248342.2:c.554C>G, XM_005248342.1:c.554C>G, XM_047417539.1:c.554C>G, XM_047417540.1:c.233C>G, NP_004163.3:p.Ala185Gly, NP_001160167.1:p.Ala185Gly, NP_001276868.1:p.Ala139Gly, XP_005248399.1:p.Ala185Gly, XP_047273495.1:p.Ala185Gly, XP_047273496.1:p.Ala78Gly

Select item 143698105017.

rs1436981050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:36677004 (GRCh38)
5:36677106 (GRCh37)
Canonical SPDI:: NC_000005.10:36677003:T:A
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36677004T>A, NC_000005.9:g.36677106T>A, NG_015890.1:g.75650T>A, NM_004172.5:c.680T>A, NM_004172.4:c.680T>A, NM_001166695.3:c.680T>A, NM_001166695.2:c.680T>A, NM_001166695.1:c.680T>A, NM_001289939.2:c.542T>A, NM_001289939.1:c.542T>A, XM_005248342.4:c.680T>A, XM_005248342.3:c.680T>A, XM_005248342.2:c.680T>A, XM_005248342.1:c.680T>A, XM_047417539.1:c.680T>A, XM_047417540.1:c.359T>A, NP_004163.3:p.Ile227Asn, NP_001160167.1:p.Ile227Asn, NP_001276868.1:p.Ile181Asn, XP_005248399.1:p.Ile227Asn, XP_047273495.1:p.Ile227Asn, XP_047273496.1:p.Ile120Asn

Select item 143382522118.

rs1433825221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:36686177 (GRCh38)
5:36686279 (GRCh37)
Canonical SPDI:: NC_000005.10:36686176:G:C
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36686177G>C, NC_000005.9:g.36686279G>C, NG_015890.1:g.84823G>C, NM_004172.5:c.1537G>C, NM_004172.4:c.1537G>C, NM_001166695.3:c.1402G>C, NM_001166695.2:c.1402G>C, NM_001166695.1:c.1402G>C, NM_001289939.2:c.1399G>C, NM_001289939.1:c.1399G>C, NM_001289940.2:c.1201G>C, NM_001289940.1:c.1201G>C, XM_005248342.4:c.1537G>C, XM_005248342.3:c.1537G>C, XM_005248342.2:c.1537G>C, XM_005248342.1:c.1537G>C, XM_047417539.1:c.1402G>C, XM_047417540.1:c.1216G>C, NP_004163.3:p.Val513Leu, NP_001160167.1:p.Val468Leu, NP_001276868.1:p.Val467Leu, NP_001276869.1:p.Val401Leu, XP_005248399.1:p.Val513Leu, XP_047273495.1:p.Val468Leu, XP_047273496.1:p.Val406Leu

Select item 143205013019.

rs1432050130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36671112 (GRCh38)
5:36671214 (GRCh37)
Canonical SPDI:: NC_000005.10:36671111:G:A
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.36671112G>A, NC_000005.9:g.36671214G>A, NG_015890.1:g.69758G>A, NM_004172.5:c.403G>A, NM_004172.4:c.403G>A, NM_001166695.3:c.403G>A, NM_001166695.2:c.403G>A, NM_001166695.1:c.403G>A, NM_001289939.2:c.265G>A, NM_001289939.1:c.265G>A, NM_001289940.2:c.403G>A, NM_001289940.1:c.403G>A, XM_005248342.4:c.403G>A, XM_005248342.3:c.403G>A, XM_005248342.2:c.403G>A, XM_005248342.1:c.403G>A, XM_047417539.1:c.403G>A, XM_047417540.1:c.82G>A, NP_004163.3:p.Val135Met, NP_001160167.1:p.Val135Met, NP_001276868.1:p.Val89Met, NP_001276869.1:p.Val135Met, XP_005248399.1:p.Val135Met, XP_047273495.1:p.Val135Met, XP_047273496.1:p.Val28Met

Select item 142660421920.

rs1426604219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36671090 (GRCh38)
5:36671192 (GRCh37)
Canonical SPDI:: NC_000005.10:36671089:T:C
Gene:: SLC1A3 (Varview), LOC107986412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36671090T>C, NC_000005.9:g.36671192T>C, NG_015890.1:g.69736T>C, NM_004172.5:c.381T>C, NM_004172.4:c.381T>C, NM_001166695.3:c.381T>C, NM_001166695.2:c.381T>C, NM_001166695.1:c.381T>C, NM_001289939.2:c.243T>C, NM_001289939.1:c.243T>C, NM_001289940.2:c.381T>C, NM_001289940.1:c.381T>C, XM_005248342.4:c.381T>C, XM_005248342.3:c.381T>C, XM_005248342.2:c.381T>C, XM_005248342.1:c.381T>C, XM_047417539.1:c.381T>C, XM_047417540.1:c.60T>C

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