SNP Links for Protein (Select 52353304) - SNP

Links from Protein

Items: 1 to 20 of 537

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Select item 14905463201.

rs1490546320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56375773 (GRCh38)
11:56143249 (GRCh37)
Canonical SPDI:: NC_000011.10:56375772:A:G
Gene:: OR8U1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.56375773A>G, NC_000011.9:g.56143249A>G, NW_025791793.1:g.186522A>G, NW_003871073.1:g.186523A>G, NM_001013356.2:c.150A>G, NM_001005204.1:c.150A>G

Select item 14896250502.

rs1489625050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56376536 (GRCh38)
11:56144012 (GRCh37)
Canonical SPDI:: NC_000011.10:56376535:A:G
Gene:: OR8U1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.56376536A>G, NC_000011.9:g.56144012A>G, NW_025791793.1:g.187285A>G, NW_003871073.1:g.187286A>G, NM_001013356.2:c.913A>G, NM_001005204.1:c.913A>G, NP_001005204.1:p.Ile305Val

Select item 14886106013.

rs1488610601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:56376312 (GRCh38)
11:56143788 (GRCh37)
Canonical SPDI:: NC_000011.10:56376311:C:A
Gene:: OR8U1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56376312C>A, NC_000011.9:g.56143788C>A, NW_025791793.1:g.187061C>A, NW_003871073.1:g.187062C>A, NM_001013356.2:c.689C>A, NM_001005204.1:c.689C>A, NP_001005204.1:p.Ser230Ter

Select item 14854340184.

rs1485434018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:56376543 (GRCh38)
11:56144019 (GRCh37)
Canonical SPDI:: NC_000011.10:56376542:A:C
Gene:: OR8U1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.56376543A>C, NC_000011.9:g.56144019A>C, NW_025791793.1:g.187292A>C, NW_003871073.1:g.187293A>C, NM_001013356.2:c.920A>C, NM_001005204.1:c.920A>C, NP_001005204.1:p.Asn307Thr

Select item 14833348325.

rs1483334832 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 11:56376402 (GRCh38)
11:56143879 (GRCh37)
Canonical SPDI:: NC_000011.10:56376402:A:AAA
Gene:: OR8U1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
AA=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56376403_56376404insAA, NC_000011.9:g.56143879_56143880insAA, NW_025791793.1:g.187152_187153insAA, NW_003871073.1:g.187153_187154insAA, NM_001013356.2:c.780_781insAA, NM_001005204.1:c.780_781insAA, NP_001005204.1:p.Gln261fs

Select item 14778009846.

rs1477800984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:56376074 (GRCh38)
11:56143550 (GRCh37)
Canonical SPDI:: NC_000011.10:56376073:T:A,NC_000011.10:56376073:T:C
Gene:: OR8U1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56376074T>A, NC_000011.10:g.56376074T>C, NC_000011.9:g.56143550T>A, NC_000011.9:g.56143550T>C, NW_025791793.1:g.186823T>A, NW_025791793.1:g.186823T>C, NW_003871073.1:g.186824T>A, NW_003871073.1:g.186824T>C, NM_001013356.2:c.451T>A, NM_001013356.2:c.451T>C, NM_001005204.1:c.451T>A, NM_001005204.1:c.451T>C, NP_001005204.1:p.Tyr151Asn, NP_001005204.1:p.Tyr151His

Select item 14764946607.

rs1476494660 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:56375786 (GRCh38)
11:56143262 (GRCh37)
Canonical SPDI:: NC_000011.10:56375785:C:
Gene:: OR8U1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.56375786del, NC_000011.9:g.56143262del, NW_025791793.1:g.186535del, NW_003871073.1:g.186536del, NM_001013356.2:c.163del, NM_001005204.1:c.163del, NP_001005204.1:p.Leu55fs

Select item 14748184668.

rs1474818466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:56376119 (GRCh38)
11:56143595 (GRCh37)
Canonical SPDI:: NC_000011.10:56376118:C:G,NC_000011.10:56376118:C:T
Gene:: OR8U1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.56376119C>G, NC_000011.10:g.56376119C>T, NC_000011.9:g.56143595C>G, NC_000011.9:g.56143595C>T, NW_025791793.1:g.186868C>G, NW_025791793.1:g.186868C>T, NW_003871073.1:g.186869C>G, NW_003871073.1:g.186869C>T, NM_001013356.2:c.496C>G, NM_001013356.2:c.496C>T, NM_001005204.1:c.496C>G, NM_001005204.1:c.496C>T, NP_001005204.1:p.Leu166Val, NP_001005204.1:p.Leu166Phe

Select item 14659480669.

rs1465948066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56376354 (GRCh38)
11:56143830 (GRCh37)
Canonical SPDI:: NC_000011.10:56376353:A:G
Gene:: OR8U1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56376354A>G, NC_000011.9:g.56143830A>G, NW_025791793.1:g.187103A>G, NW_003871073.1:g.187104A>G, NM_001013356.2:c.731A>G, NM_001005204.1:c.731A>G, NP_001005204.1:p.His244Arg

Select item 146324777010.

rs1463247770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:56375968 (GRCh38)
11:56143444 (GRCh37)
Canonical SPDI:: NC_000011.10:56375967:G:A
Gene:: OR8U1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56375968G>A, NC_000011.9:g.56143444G>A, NW_025791793.1:g.186717G>A, NW_003871073.1:g.186718G>A, NM_001013356.2:c.345G>A, NM_001005204.1:c.345G>A

Select item 146280389811.

rs1462803898 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATCCT>- [Show Flanks]
Chromosome:: 11:56375758 (GRCh38)
11:56143234 (GRCh37)
Canonical SPDI:: NC_000011.10:56375756:TGATCCT:T
Gene:: OR8U1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.56375758_56375763del, NC_000011.9:g.56143234_56143239del, NW_025791793.1:g.186507_186512del, NW_003871073.1:g.186508_186513del, NM_001013356.2:c.135_140del, NM_001005204.1:c.135_140del, NP_001005204.1:p.Ile46_Leu47del

Select item 145633854412.

rs1456338544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56376183 (GRCh38)
11:56143659 (GRCh37)
Canonical SPDI:: NC_000011.10:56376182:T:C
Gene:: OR8U1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.56376183T>C, NC_000011.9:g.56143659T>C, NW_025791793.1:g.186932T>C, NW_003871073.1:g.186933T>C, NM_001013356.2:c.560T>C, NM_001005204.1:c.560T>C, NP_001005204.1:p.Leu187Pro

Select item 145115792113.

rs1451157921 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 11:56376325 (GRCh38)
11:56143802 (GRCh37)
Canonical SPDI:: NC_000011.10:56376325::TG
Gene:: OR8U1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: TG=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.56376325_56376326insTG, NC_000011.9:g.56143801_56143802insTG, NW_025791793.1:g.187074_187075insTG, NW_003871073.1:g.187075_187076insTG, NM_001013356.2:c.702_703insTG, NM_001005204.1:c.702_703insTG, NP_001005204.1:p.Gln235fs

Select item 145054805714.

rs1450548057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:56376130 (GRCh38)
11:56143606 (GRCh37)
Canonical SPDI:: NC_000011.10:56376129:C:A
Gene:: OR8U1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56376130C>A, NC_000011.9:g.56143606C>A, NW_025791793.1:g.186879C>A, NW_003871073.1:g.186880C>A, NM_001013356.2:c.507C>A, NM_001005204.1:c.507C>A, NP_001005204.1:p.Cys169Ter

Select item 144974329315.

rs1449743293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:56375669 (GRCh38)
11:56143145 (GRCh37)
Canonical SPDI:: NC_000011.10:56375668:G:A,NC_000011.10:56375668:G:T
Gene:: OR8U1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.56375669G>A, NC_000011.10:g.56375669G>T, NC_000011.9:g.56143145G>A, NC_000011.9:g.56143145G>T, NW_025791793.1:g.186418G>A, NW_025791793.1:g.186418G>T, NW_003871073.1:g.186419G>A, NW_003871073.1:g.186419G>T, NM_001013356.2:c.46G>A, NM_001013356.2:c.46G>T, NM_001005204.1:c.46G>A, NM_001005204.1:c.46G>T, NP_001005204.1:p.Gly16Ser, NP_001005204.1:p.Gly16Cys

Select item 144759154616.

rs1447591546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56376360 (GRCh38)
11:56143836 (GRCh37)
Canonical SPDI:: NC_000011.10:56376359:T:C
Gene:: OR8U1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.56376360T>C, NC_000011.9:g.56143836T>C, NW_025791793.1:g.187109T>C, NW_003871073.1:g.187110T>C, NM_001013356.2:c.737T>C, NM_001005204.1:c.737T>C, NP_001005204.1:p.Leu246Pro

Select item 144320252917.

rs1443202529 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 11:56376387 (GRCh38)
11:56143863 (GRCh37)
Canonical SPDI:: NC_000011.10:56376385:CTC:C
Gene:: OR8U1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.56376387_56376388del, NC_000011.9:g.56143863_56143864del, NW_025791793.1:g.187136_187137del, NW_003871073.1:g.187138G>C, NW_003871073.1:g.187137_187138del, NM_001013356.2:c.765G>C, NM_001013356.2:c.764_765del, NM_001005204.1:c.764_765del, NP_001005204.1:p.Leu255fs

Select item 144169729218.

rs1441697292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 11:56376021 (GRCh38)
11:56143497 (GRCh37)
Canonical SPDI:: NC_000011.10:56376020:T:A,NC_000011.10:56376020:T:C,NC_000011.10:56376020:T:G
Gene:: OR8U1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.56376021T>A, NC_000011.10:g.56376021T>C, NC_000011.10:g.56376021T>G, NC_000011.9:g.56143497T>A, NC_000011.9:g.56143497T>C, NC_000011.9:g.56143497T>G, NW_025791793.1:g.186770T>A, NW_025791793.1:g.186770T>C, NW_025791793.1:g.186770T>G, NW_003871073.1:g.186771T>A, NW_003871073.1:g.186771T>C, NW_003871073.1:g.186771T>G, NM_001013356.2:c.398T>A, NM_001013356.2:c.398T>C, NM_001013356.2:c.398T>G, NM_001005204.1:c.398T>A, NM_001005204.1:c.398T>C, NM_001005204.1:c.398T>G, NP_001005204.1:p.Met133Lys, NP_001005204.1:p.Met133Thr, NP_001005204.1:p.Met133Arg

Select item 144131602419.

rs1441316024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56376020 (GRCh38)
11:56143496 (GRCh37)
Canonical SPDI:: NC_000011.10:56376019:A:G
Gene:: OR8U1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.56376020A>G, NC_000011.9:g.56143496A>G, NW_025791793.1:g.186769A>G, NW_003871073.1:g.186770A>G, NM_001013356.2:c.397A>G, NM_001005204.1:c.397A>G, NP_001005204.1:p.Met133Val

Select item 143617612620.

rs1436176126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56376375 (GRCh38)
11:56143851 (GRCh37)
Canonical SPDI:: NC_000011.10:56376374:T:C
Gene:: OR8U1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56376375T>C, NC_000011.9:g.56143851T>C, NW_025791793.1:g.187124T>C, NW_003871073.1:g.187125T>C, NM_001013356.2:c.752T>C, NM_001005204.1:c.752T>C, NP_001005204.1:p.Phe251Ser

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