SNP Links for Protein (Select 387849330) - SNP

Links from Protein

Items: 1 to 20 of 397

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Select item 14904486841.

rs1490448684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121033578 (GRCh38)
12:121471381 (GRCh37)
Canonical SPDI:: NC_000012.12:121033577:C:T
Gene:: OASL (Varview)
Functional Consequence:: intron_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=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.121033578C>T, NC_000012.11:g.121471381C>T, NM_003733.4:c.364G>A, NM_003733.3:c.364G>A, NM_198213.3:c.364G>A, NM_198213.2:c.364G>A, NM_001261825.2:c.364G>A, NM_001261825.1:c.364G>A, NM_001395419.1:c.364G>A, NM_001395418.1:c.364G>A, NP_003724.1:p.Gly122Arg, NP_937856.1:p.Gly122Arg, NP_001248754.1:p.Gly122Arg, NP_001382348.1:p.Gly122Arg, NP_001382347.1:p.Gly122Arg

Select item 14886176752.

rs1488617675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121020717 (GRCh38)
12:121458520 (GRCh37)
Canonical SPDI:: NC_000012.12:121020716:A:G
Gene:: OASL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121020717A>G, NC_000012.11:g.121458520A>G, NM_003733.4:c.1389T>C, NM_003733.3:c.1389T>C, NM_198213.3:c.*379T>C, NM_198213.2:c.*379T>C, NM_001261825.2:c.999T>C, NM_001261825.1:c.999T>C, XM_047429803.1:c.654T>C

Select item 14846991743.

rs1484699174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:121033468 (GRCh38)
12:121471271 (GRCh37)
Canonical SPDI:: NC_000012.12:121033467:T:C
Gene:: OASL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121033468T>C, NC_000012.11:g.121471271T>C, NM_003733.4:c.474A>G, NM_003733.3:c.474A>G, NM_198213.3:c.474A>G, NM_198213.2:c.474A>G, NM_001261825.2:c.474A>G, NM_001261825.1:c.474A>G, NM_001395419.1:c.474A>G, NM_001395418.1:c.474A>G

Select item 14797303164.

rs1479730316 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTT [Show Flanks]
Chromosome:: 12:121021056 (GRCh38)
12:121458860 (GRCh37)
Canonical SPDI:: NC_000012.12:121021056:CTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTT:CTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTTCTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTT
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTTCTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTT=0./0 (ALFA)
CTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTT=0.000004/1 (TOPMED)
CTCTGGAAGGGAGAGGGAGAAGGAGAGGTGTT=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121021057_121021088dup, NC_000012.11:g.121458860_121458891dup

Select item 14779311525.

rs1477931152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:121020957 (GRCh38)
12:121458760 (GRCh37)
Canonical SPDI:: NC_000012.12:121020956:G:T
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.121020957G>T, NC_000012.11:g.121458760G>T, NM_003733.4:c.1149C>A, NM_003733.3:c.1149C>A, NM_198213.3:c.*139C>A, NM_198213.2:c.*139C>A, NM_001261825.2:c.759C>A, NM_001261825.1:c.759C>A, XM_047429803.1:c.414C>A

Select item 14738769626.

rs1473876962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121033652 (GRCh38)
12:121471455 (GRCh37)
Canonical SPDI:: NC_000012.12:121033651:G:A
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121033652G>A, NC_000012.11:g.121471455G>A, NM_003733.4:c.290C>T, NM_003733.3:c.290C>T, NM_198213.3:c.290C>T, NM_198213.2:c.290C>T, NM_001261825.2:c.290C>T, NM_001261825.1:c.290C>T, NM_001395419.1:c.290C>T, NM_001395418.1:c.290C>T, NP_003724.1:p.Ala97Val, NP_937856.1:p.Ala97Val, NP_001248754.1:p.Ala97Val, NP_001382348.1:p.Ala97Val, NP_001382347.1:p.Ala97Val

Select item 14702098117.

rs1470209811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:121033492 (GRCh38)
12:121471295 (GRCh37)
Canonical SPDI:: NC_000012.12:121033491:C:A,NC_000012.12:121033491:C:G,NC_000012.12:121033491:C:T
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121033492C>A, NC_000012.12:g.121033492C>G, NC_000012.12:g.121033492C>T, NC_000012.11:g.121471295C>A, NC_000012.11:g.121471295C>G, NC_000012.11:g.121471295C>T, NM_003733.4:c.450G>T, NM_003733.4:c.450G>C, NM_003733.4:c.450G>A, NM_003733.3:c.450G>T, NM_003733.3:c.450G>C, NM_003733.3:c.450G>A, NM_198213.3:c.450G>T, NM_198213.3:c.450G>C, NM_198213.3:c.450G>A, NM_198213.2:c.450G>T, NM_198213.2:c.450G>C, NM_198213.2:c.450G>A, NM_001261825.2:c.450G>T, NM_001261825.2:c.450G>C, NM_001261825.2:c.450G>A, NM_001261825.1:c.450G>T, NM_001261825.1:c.450G>C, NM_001261825.1:c.450G>A, NM_001395419.1:c.450G>T, NM_001395419.1:c.450G>C, NM_001395419.1:c.450G>A, NM_001395418.1:c.450G>T, NM_001395418.1:c.450G>C, NM_001395418.1:c.450G>A

Select item 14663459308.

rs1466345930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:121020566 (GRCh38)
12:121458369 (GRCh37)
Canonical SPDI:: NC_000012.12:121020565:T:C
Gene:: OASL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121020566T>C, NC_000012.11:g.121458369T>C, NM_003733.4:c.1540A>G, NM_003733.3:c.1540A>G, NM_198213.3:c.*530A>G, NM_198213.2:c.*530A>G, NM_001261825.2:c.1150A>G, NM_001261825.1:c.1150A>G, XM_047429803.1:c.805A>G, NP_003724.1:p.Ser514Gly, NP_001248754.1:p.Ser384Gly, XP_047285759.1:p.Ser269Gly

Select item 14604542689.

rs1460454268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121038900 (GRCh38)
12:121476703 (GRCh37)
Canonical SPDI:: NC_000012.12:121038899:C:T
Gene:: OASL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121038900C>T, NC_000012.11:g.121476703C>T, NM_003733.4:c.72G>A, NM_003733.3:c.72G>A, NM_198213.3:c.72G>A, NM_198213.2:c.72G>A, NM_001261825.2:c.72G>A, NM_001261825.1:c.72G>A, XM_047429803.1:c.-381G>A, NM_001395419.1:c.72G>A, NM_001395418.1:c.72G>A

Select item 145779838010.

rs1457798380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:121038878 (GRCh38)
12:121476681 (GRCh37)
Canonical SPDI:: NC_000012.12:121038877:C:G
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121038878C>G, NC_000012.11:g.121476681C>G, NM_003733.4:c.94G>C, NM_003733.3:c.94G>C, NM_198213.3:c.94G>C, NM_198213.2:c.94G>C, NM_001261825.2:c.94G>C, NM_001261825.1:c.94G>C, XM_047429803.1:c.-359G>C, NM_001395419.1:c.94G>C, NM_001395418.1:c.94G>C, NP_003724.1:p.Glu32Gln, NP_937856.1:p.Glu32Gln, NP_001248754.1:p.Glu32Gln, NP_001382348.1:p.Glu32Gln, NP_001382347.1:p.Glu32Gln

Select item 145612671311.

rs1456126713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:121020983 (GRCh38)
12:121458786 (GRCh37)
Canonical SPDI:: NC_000012.12:121020982:G:T
Gene:: OASL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_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=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.121020983G>T, NC_000012.11:g.121458786G>T, NM_003733.4:c.1123C>A, NM_003733.3:c.1123C>A, NM_198213.3:c.*113C>A, NM_198213.2:c.*113C>A, NM_001261825.2:c.733C>A, NM_001261825.1:c.733C>A, XM_047429803.1:c.388C>A, NP_003724.1:p.Pro375Thr, NP_001248754.1:p.Pro245Thr, XP_047285759.1:p.Pro130Thr

Select item 145179703212.

rs1451797032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121031571 (GRCh38)
12:121469374 (GRCh37)
Canonical SPDI:: NC_000012.12:121031570:G:A
Gene:: OASL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.121031571G>A, NC_000012.11:g.121469374G>A, NM_003733.4:c.528C>T, NM_003733.3:c.528C>T, NM_198213.3:c.528C>T, NM_198213.2:c.528C>T, NM_001261825.2:c.528C>T, NM_001261825.1:c.528C>T, XM_047429803.1:c.-208C>T, NM_001395419.1:c.528C>T, NM_001395418.1:c.528C>T

Select item 145127810213.

rs1451278102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:121021029 (GRCh38)
12:121458832 (GRCh37)
Canonical SPDI:: NC_000012.12:121021028:C:G
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,missense_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_000012.12:g.121021029C>G, NC_000012.11:g.121458832C>G, NM_003733.4:c.1077G>C, NM_003733.3:c.1077G>C, NM_198213.3:c.*67G>C, NM_198213.2:c.*67G>C, NM_001261825.2:c.687G>C, NM_001261825.1:c.687G>C, XM_047429803.1:c.342G>C, NP_003724.1:p.Glu359Asp, NP_001248754.1:p.Glu229Asp, XP_047285759.1:p.Glu114Asp

Select item 144827258714.

rs1448272587 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCTTTTTAGGAAGC [Show Flanks]
Chromosome:: 12:121020685 (GRCh38)
12:121458489 (GRCh37)
Canonical SPDI:: NC_000012.12:121020685:GCTGCTTTTTAGGAAGC:GCTGCTTTTTAGGAAGCTGCTTTTTAGGAAGC
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGCTTTTTAGGAAGCTGCTTTTTAGGAAGC=0./0 (ALFA)
GCTGCTTTTTAGGAA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121020688_121020702dup, NC_000012.11:g.121458491_121458505dup, NM_003733.4:c.1406_1420dup, NM_003733.3:c.1406_1420dup, NM_198213.3:c.*396_*410dup, NM_198213.2:c.*396_*410dup, NM_001261825.2:c.1016_1030dup, NM_001261825.1:c.1016_1030dup, XM_047429803.1:c.671_685dup, NP_003724.1:p.Leu469_Gln473dup, NP_001248754.1:p.Leu339_Gln343dup, XP_047285759.1:p.Leu224_Gln228dup

Select item 144301872115.

rs1443018721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121033597 (GRCh38)
12:121471400 (GRCh37)
Canonical SPDI:: NC_000012.12:121033596:G:A
Gene:: OASL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121033597G>A, NC_000012.11:g.121471400G>A, NM_003733.4:c.345C>T, NM_003733.3:c.345C>T, NM_198213.3:c.345C>T, NM_198213.2:c.345C>T, NM_001261825.2:c.345C>T, NM_001261825.1:c.345C>T, NM_001395419.1:c.345C>T, NM_001395418.1:c.345C>T

Select item 143998808316.

rs1439988083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121038820 (GRCh38)
12:121476623 (GRCh37)
Canonical SPDI:: NC_000012.12:121038819:C:T
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121038820C>T, NC_000012.11:g.121476623C>T, NM_003733.4:c.152G>A, NM_003733.3:c.152G>A, NM_198213.3:c.152G>A, NM_198213.2:c.152G>A, NM_001261825.2:c.152G>A, NM_001261825.1:c.152G>A, XM_047429803.1:c.-301G>A, NM_001395419.1:c.152G>A, NM_001395418.1:c.152G>A, NP_003724.1:p.Gly51Glu, NP_937856.1:p.Gly51Glu, NP_001248754.1:p.Gly51Glu, NP_001382348.1:p.Gly51Glu, NP_001382347.1:p.Gly51Glu

Select item 143880056417.

rs1438800564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121038921 (GRCh38)
12:121476724 (GRCh37)
Canonical SPDI:: NC_000012.12:121038920:G:A
Gene:: OASL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.121038921G>A, NC_000012.11:g.121476724G>A, NM_003733.4:c.51C>T, NM_003733.3:c.51C>T, NM_198213.3:c.51C>T, NM_198213.2:c.51C>T, NM_001261825.2:c.51C>T, NM_001261825.1:c.51C>T, XM_047429803.1:c.-402C>T, NM_001395419.1:c.51C>T, NM_001395418.1:c.51C>T

Select item 143805855618.

rs1438058556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:121033704 (GRCh38)
12:121471507 (GRCh37)
Canonical SPDI:: NC_000012.12:121033703:T:C
Gene:: OASL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000012.12:g.121033704T>C, NC_000012.11:g.121471507T>C, NM_003733.4:c.238A>G, NM_003733.3:c.238A>G, NM_198213.3:c.238A>G, NM_198213.2:c.238A>G, NM_001261825.2:c.238A>G, NM_001261825.1:c.238A>G, NM_001395419.1:c.238A>G, NM_001395418.1:c.238A>G, NP_003724.1:p.Arg80Gly, NP_937856.1:p.Arg80Gly, NP_001248754.1:p.Arg80Gly, NP_001382348.1:p.Arg80Gly, NP_001382347.1:p.Arg80Gly

Select item 143438398119.

rs1434383981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121020639 (GRCh38)
12:121458442 (GRCh37)
Canonical SPDI:: NC_000012.12:121020638:C:T
Gene:: OASL (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121020639C>T, NC_000012.11:g.121458442C>T, NM_003733.4:c.1467G>A, NM_003733.3:c.1467G>A, NM_198213.3:c.*457G>A, NM_198213.2:c.*457G>A, NM_001261825.2:c.1077G>A, NM_001261825.1:c.1077G>A, XM_047429803.1:c.732G>A

Select item 143359666020.

rs1433596660 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAGATCCCCAGACCCAACCAGTCC>- [Show Flanks]
Chromosome:: 12:121020630 (GRCh38)
12:121458433 (GRCh37)
Canonical SPDI:: NC_000012.12:121020627:CCATAGATCCCCAGACCCAACCAGTCC:CC
Gene:: OASL (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121020630_121020654del, NC_000012.11:g.121458433_121458457del, NM_003733.4:c.1454_1478del, NM_003733.3:c.1454_1478del, NM_198213.3:c.*444_*468del, NM_198213.2:c.*444_*468del, NM_001261825.2:c.1064_1088del, NM_001261825.1:c.1064_1088del, XM_047429803.1:c.719_743del, NP_003724.1:p.Asp485fs, NP_001248754.1:p.Asp355fs, XP_047285759.1:p.Asp240fs

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