SNP Links for Protein (Select 578812427) - SNP

Links from Protein

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Select item 14854586191.

rs1485458619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:134028539 (GRCh38)
6:134349677 (GRCh37)
Canonical SPDI:: NC_000006.12:134028538:C:T
Gene:: SLC2A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.134028539C>T, NC_000006.11:g.134349677C>T, XM_006715349.5:c.1286G>A, XM_006715349.4:c.1286G>A, XM_006715349.3:c.1286G>A, XM_006715349.2:c.1286G>A, XM_006715349.1:c.1286G>A, NM_145176.3:c.1286G>A, NM_145176.2:c.1286G>A, XM_017010311.3:c.1286G>A, XM_017010311.2:c.1286G>A, XM_017010311.1:c.1286G>A, XP_006715412.1:p.Arg429Lys, NP_660159.1:p.Arg429Lys, XP_016865800.1:p.Arg429Lys

Select item 14851517832.

rs1485151783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:134028915 (GRCh38)
6:134350053 (GRCh37)
Canonical SPDI:: NC_000006.12:134028914:C:G,NC_000006.12:134028914:C:T
Gene:: SLC2A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.134028915C>G, NC_000006.12:g.134028915C>T, NC_000006.11:g.134350053C>G, NC_000006.11:g.134350053C>T, XM_006715349.5:c.910G>C, XM_006715349.5:c.910G>A, XM_006715349.4:c.910G>C, XM_006715349.4:c.910G>A, XM_006715349.3:c.910G>C, XM_006715349.3:c.910G>A, XM_006715349.2:c.910G>C, XM_006715349.2:c.910G>A, XM_006715349.1:c.910G>C, XM_006715349.1:c.910G>A, NM_145176.3:c.910G>C, NM_145176.3:c.910G>A, NM_145176.2:c.910G>C, NM_145176.2:c.910G>A, XM_017010311.3:c.910G>C, XM_017010311.3:c.910G>A, XM_017010311.2:c.910G>C, XM_017010311.2:c.910G>A, XM_017010311.1:c.910G>C, XM_017010311.1:c.910G>A, XP_006715412.1:p.Val304Leu, XP_006715412.1:p.Val304Ile, NP_660159.1:p.Val304Leu, NP_660159.1:p.Val304Ile, XP_016865800.1:p.Val304Leu, XP_016865800.1:p.Val304Ile

Select item 14837977143.

rs1483797714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:134016124 (GRCh38)
6:134337262 (GRCh37)
Canonical SPDI:: NC_000006.12:134016123:T:C
Gene:: SLC2A12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.134016124T>C, NC_000006.11:g.134337262T>C, XM_006715349.5:c.1584A>G, XM_006715349.4:c.1584A>G, XM_006715349.3:c.1584A>G, XM_006715349.2:c.1584A>G, XM_006715349.1:c.1584A>G

Select item 14768145324.

rs1476814532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:134028938 (GRCh38)
6:134350076 (GRCh37)
Canonical SPDI:: NC_000006.12:134028937:T:C
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.134028938T>C, NC_000006.11:g.134350076T>C, XM_006715349.5:c.887A>G, XM_006715349.4:c.887A>G, XM_006715349.3:c.887A>G, XM_006715349.2:c.887A>G, XM_006715349.1:c.887A>G, NM_145176.3:c.887A>G, NM_145176.2:c.887A>G, XM_017010311.3:c.887A>G, XM_017010311.2:c.887A>G, XM_017010311.1:c.887A>G, XP_006715412.1:p.Asn296Ser, NP_660159.1:p.Asn296Ser, XP_016865800.1:p.Asn296Ser

Select item 14765768445.

rs1476576844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:134028551 (GRCh38)
6:134349689 (GRCh37)
Canonical SPDI:: NC_000006.12:134028550:T:A
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.134028551T>A, NC_000006.11:g.134349689T>A, XM_006715349.5:c.1274A>T, XM_006715349.4:c.1274A>T, XM_006715349.3:c.1274A>T, XM_006715349.2:c.1274A>T, XM_006715349.1:c.1274A>T, NM_145176.3:c.1274A>T, NM_145176.2:c.1274A>T, XM_017010311.3:c.1274A>T, XM_017010311.2:c.1274A>T, XM_017010311.1:c.1274A>T, XP_006715412.1:p.Asp425Val, NP_660159.1:p.Asp425Val, XP_016865800.1:p.Asp425Val

Select item 14735431046.

rs1473543104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:134028939 (GRCh38)
6:134350077 (GRCh37)
Canonical SPDI:: NC_000006.12:134028938:T:C
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000006.12:g.134028939T>C, NC_000006.11:g.134350077T>C, XM_006715349.5:c.886A>G, XM_006715349.4:c.886A>G, XM_006715349.3:c.886A>G, XM_006715349.2:c.886A>G, XM_006715349.1:c.886A>G, NM_145176.3:c.886A>G, NM_145176.2:c.886A>G, XM_017010311.3:c.886A>G, XM_017010311.2:c.886A>G, XM_017010311.1:c.886A>G, XP_006715412.1:p.Asn296Asp, NP_660159.1:p.Asn296Asp, XP_016865800.1:p.Asn296Asp

Select item 14709722617.

rs1470972261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:134028716 (GRCh38)
6:134349854 (GRCh37)
Canonical SPDI:: NC_000006.12:134028715:A:G
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.134028716A>G, NC_000006.11:g.134349854A>G, XM_006715349.5:c.1109T>C, XM_006715349.4:c.1109T>C, XM_006715349.3:c.1109T>C, XM_006715349.2:c.1109T>C, XM_006715349.1:c.1109T>C, NM_145176.3:c.1109T>C, NM_145176.2:c.1109T>C, XM_017010311.3:c.1109T>C, XM_017010311.2:c.1109T>C, XM_017010311.1:c.1109T>C, XP_006715412.1:p.Met370Thr, NP_660159.1:p.Met370Thr, XP_016865800.1:p.Met370Thr

Select item 14705910778.

rs1470591077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:134028392 (GRCh38)
6:134349530 (GRCh37)
Canonical SPDI:: NC_000006.12:134028391:C:A
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.134028392C>A, NC_000006.11:g.134349530C>A, XM_006715349.5:c.1433G>T, XM_006715349.4:c.1433G>T, XM_006715349.3:c.1433G>T, XM_006715349.2:c.1433G>T, XM_006715349.1:c.1433G>T, NM_145176.3:c.1433G>T, NM_145176.2:c.1433G>T, XM_017010311.3:c.1433G>T, XM_017010311.2:c.1433G>T, XM_017010311.1:c.1433G>T, XP_006715412.1:p.Gly478Val, NP_660159.1:p.Gly478Val, XP_016865800.1:p.Gly478Val

Select item 14686609639.

rs1468660963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:134028836 (GRCh38)
6:134349974 (GRCh37)
Canonical SPDI:: NC_000006.12:134028835:C:G
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0011/2 (Korea1K)
HGVS:: NC_000006.12:g.134028836C>G, NC_000006.11:g.134349974C>G, XM_006715349.5:c.989G>C, XM_006715349.4:c.989G>C, XM_006715349.3:c.989G>C, XM_006715349.2:c.989G>C, XM_006715349.1:c.989G>C, NM_145176.3:c.989G>C, NM_145176.2:c.989G>C, XM_017010311.3:c.989G>C, XM_017010311.2:c.989G>C, XM_017010311.1:c.989G>C, XP_006715412.1:p.Ser330Thr, NP_660159.1:p.Ser330Thr, XP_016865800.1:p.Ser330Thr

Select item 146810301610.

rs1468103016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:134052457 (GRCh38)
6:134373595 (GRCh37)
Canonical SPDI:: NC_000006.12:134052456:C:G
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.134052457C>G, NC_000006.11:g.134373595C>G, XM_006715349.5:c.24G>C, XM_006715349.4:c.24G>C, XM_006715349.3:c.24G>C, XM_006715349.2:c.24G>C, XM_006715349.1:c.24G>C, NM_145176.3:c.24G>C, NM_145176.2:c.24G>C, XM_017010311.3:c.24G>C, XM_017010311.2:c.24G>C, XM_017010311.1:c.24G>C, XP_006715412.1:p.Glu8Asp, NP_660159.1:p.Glu8Asp, XP_016865800.1:p.Glu8Asp

Select item 146551050811.

rs1465510508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:134028783 (GRCh38)
6:134349921 (GRCh37)
Canonical SPDI:: NC_000006.12:134028782:A:T
Gene:: SLC2A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.134028783A>T, NC_000006.11:g.134349921A>T, XM_006715349.5:c.1042T>A, XM_006715349.4:c.1042T>A, XM_006715349.3:c.1042T>A, XM_006715349.2:c.1042T>A, XM_006715349.1:c.1042T>A, NM_145176.3:c.1042T>A, NM_145176.2:c.1042T>A, XM_017010311.3:c.1042T>A, XM_017010311.2:c.1042T>A, XM_017010311.1:c.1042T>A, XP_006715412.1:p.Cys348Ser, NP_660159.1:p.Cys348Ser, XP_016865800.1:p.Cys348Ser

Select item 146326559812.

rs1463265598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:134052411 (GRCh38)
6:134373549 (GRCh37)
Canonical SPDI:: NC_000006.12:134052410:C:T
Gene:: SLC2A12 (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=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.134052411C>T, NC_000006.11:g.134373549C>T, XM_006715349.5:c.70G>A, XM_006715349.4:c.70G>A, XM_006715349.3:c.70G>A, XM_006715349.2:c.70G>A, XM_006715349.1:c.70G>A, NM_145176.3:c.70G>A, NM_145176.2:c.70G>A, XM_017010311.3:c.70G>A, XM_017010311.2:c.70G>A, XM_017010311.1:c.70G>A, XP_006715412.1:p.Gly24Ser, NP_660159.1:p.Gly24Ser, XP_016865800.1:p.Gly24Ser

Select item 146305973313.

rs1463059733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:134028959 (GRCh38)
6:134350097 (GRCh37)
Canonical SPDI:: NC_000006.12:134028958:A:T
Gene:: SLC2A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.134028959A>T, NC_000006.11:g.134350097A>T, XM_006715349.5:c.866T>A, XM_006715349.4:c.866T>A, XM_006715349.3:c.866T>A, XM_006715349.2:c.866T>A, XM_006715349.1:c.866T>A, NM_145176.3:c.866T>A, NM_145176.2:c.866T>A, XM_017010311.3:c.866T>A, XM_017010311.2:c.866T>A, XM_017010311.1:c.866T>A, XP_006715412.1:p.Val289Glu, NP_660159.1:p.Val289Glu, XP_016865800.1:p.Val289Glu

Select item 146052142114.

rs1460521421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:134029142 (GRCh38)
6:134350280 (GRCh37)
Canonical SPDI:: NC_000006.12:134029141:C:G
Gene:: SLC2A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.134029142C>G, NC_000006.11:g.134350280C>G, XM_006715349.5:c.683G>C, XM_006715349.4:c.683G>C, XM_006715349.3:c.683G>C, XM_006715349.2:c.683G>C, XM_006715349.1:c.683G>C, NM_145176.3:c.683G>C, NM_145176.2:c.683G>C, XM_017010311.3:c.683G>C, XM_017010311.2:c.683G>C, XM_017010311.1:c.683G>C, XP_006715412.1:p.Gly228Ala, NP_660159.1:p.Gly228Ala, XP_016865800.1:p.Gly228Ala

Select item 145958697915.

rs1459586979 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:134029671 (GRCh38)
6:134350810 (GRCh37)
Canonical SPDI:: NC_000006.12:134029671::A
Gene:: SLC2A12 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.134029671_134029672insA, NC_000006.11:g.134350809_134350810insA, XM_006715349.5:c.153_154insT, XM_006715349.4:c.153_154insT, XM_006715349.3:c.153_154insT, XM_006715349.2:c.153_154insT, XM_006715349.1:c.153_154insT, NM_145176.3:c.153_154insT, NM_145176.2:c.153_154insT, XM_017010311.3:c.153_154insT, XM_017010311.2:c.153_154insT, XM_017010311.1:c.153_154insT, XP_006715412.1:p.Leu52fs, NP_660159.1:p.Leu52fs, XP_016865800.1:p.Leu52fs

Select item 145439387916.

rs1454393879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:134028776 (GRCh38)
6:134349914 (GRCh37)
Canonical SPDI:: NC_000006.12:134028775:C:T
Gene:: SLC2A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.134028776C>T, NC_000006.11:g.134349914C>T, XM_006715349.5:c.1049G>A, XM_006715349.4:c.1049G>A, XM_006715349.3:c.1049G>A, XM_006715349.2:c.1049G>A, XM_006715349.1:c.1049G>A, NM_145176.3:c.1049G>A, NM_145176.2:c.1049G>A, XM_017010311.3:c.1049G>A, XM_017010311.2:c.1049G>A, XM_017010311.1:c.1049G>A, XP_006715412.1:p.Gly350Asp, NP_660159.1:p.Gly350Asp, XP_016865800.1:p.Gly350Asp

Select item 145366615617.

rs1453666156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:134028546 (GRCh38)
6:134349684 (GRCh37)
Canonical SPDI:: NC_000006.12:134028545:C:T
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.134028546C>T, NC_000006.11:g.134349684C>T, XM_006715349.5:c.1279G>A, XM_006715349.4:c.1279G>A, XM_006715349.3:c.1279G>A, XM_006715349.2:c.1279G>A, XM_006715349.1:c.1279G>A, NM_145176.3:c.1279G>A, NM_145176.2:c.1279G>A, XM_017010311.3:c.1279G>A, XM_017010311.2:c.1279G>A, XM_017010311.1:c.1279G>A, XP_006715412.1:p.Asp427Asn, NP_660159.1:p.Asp427Asn, XP_016865800.1:p.Asp427Asn

Select item 144957666718.

rs1449576667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:134052400 (GRCh38)
6:134373538 (GRCh37)
Canonical SPDI:: NC_000006.12:134052399:G:C
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0082/15 (Korea1K)
HGVS:: NC_000006.12:g.134052400G>C, NC_000006.11:g.134373538G>C, XM_006715349.5:c.81C>G, XM_006715349.4:c.81C>G, XM_006715349.3:c.81C>G, XM_006715349.2:c.81C>G, XM_006715349.1:c.81C>G, NM_145176.3:c.81C>G, NM_145176.2:c.81C>G, XM_017010311.3:c.81C>G, XM_017010311.2:c.81C>G, XM_017010311.1:c.81C>G, XP_006715412.1:p.Ser27Arg, NP_660159.1:p.Ser27Arg, XP_016865800.1:p.Ser27Arg

Select item 144700036719.

rs1447000367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:134052415 (GRCh38)
6:134373553 (GRCh37)
Canonical SPDI:: NC_000006.12:134052414:C:G
Gene:: SLC2A12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.134052415C>G, NC_000006.11:g.134373553C>G, XM_006715349.5:c.66G>C, XM_006715349.4:c.66G>C, XM_006715349.3:c.66G>C, XM_006715349.2:c.66G>C, XM_006715349.1:c.66G>C, NM_145176.3:c.66G>C, NM_145176.2:c.66G>C, XM_017010311.3:c.66G>C, XM_017010311.2:c.66G>C, XM_017010311.1:c.66G>C

Select item 144563140320.

rs1445631403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:134029237 (GRCh38)
6:134350375 (GRCh37)
Canonical SPDI:: NC_000006.12:134029236:C:A
Gene:: SLC2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.134029237C>A, NC_000006.11:g.134350375C>A, XM_006715349.5:c.588G>T, XM_006715349.4:c.588G>T, XM_006715349.3:c.588G>T, XM_006715349.2:c.588G>T, XM_006715349.1:c.588G>T, NM_145176.3:c.588G>T, NM_145176.2:c.588G>T, XM_017010311.3:c.588G>T, XM_017010311.2:c.588G>T, XM_017010311.1:c.588G>T, XP_006715412.1:p.Trp196Cys, NP_660159.1:p.Trp196Cys, XP_016865800.1:p.Trp196Cys

dbSNP

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