SNP Links for Protein (Select 51944971) - SNP

Links from Protein

Items: 1 to 20 of 661

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Select item 14905344491.

rs1490534449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:18549530 (GRCh38)
16:18560852 (GRCh37)
Canonical SPDI:: NC_000016.10:18549529:G:C
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.18549530G>C, NC_000016.9:g.18560852G>C, NM_173614.4:c.500C>G, NM_173614.3:c.500C>G, NM_173614.2:c.500C>G, XM_017023156.3:c.500C>G, XM_017023156.2:c.500C>G, XM_017023156.1:c.500C>G, NM_001004060.2:c.500C>G, NM_001004060.1:c.500C>G, NP_775885.1:p.Pro167Arg, XP_016878645.1:p.Pro167Arg, NP_001004060.1:p.Pro167Arg

Select item 14874381892.

rs1487438189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:18547237 (GRCh38)
16:18558559 (GRCh37)
Canonical SPDI:: NC_000016.10:18547236:C:T
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00007/2 (TOMMO)
T=0.0001/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.18547237C>T, NC_000016.9:g.18558559C>T, NM_173614.4:c.573G>A, NM_173614.3:c.573G>A, NM_173614.2:c.573G>A, XM_017023156.3:c.573G>A, XM_017023156.2:c.573G>A, XM_017023156.1:c.573G>A, NM_001004060.2:c.573G>A, NM_001004060.1:c.573G>A

Select item 14873817563.

rs1487381756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:18543768 (GRCh38)
16:18555090 (GRCh37)
Canonical SPDI:: NC_000016.10:18543767:G:A,NC_000016.10:18543767:G:C
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.18543768G>A, NC_000016.10:g.18543768G>C, NC_000016.9:g.18555090G>A, NC_000016.9:g.18555090G>C, NM_173614.4:c.584C>T, NM_173614.4:c.584C>G, NM_173614.3:c.584C>T, NM_173614.3:c.584C>G, NM_173614.2:c.584C>T, NM_173614.2:c.584C>G, XM_017023156.3:c.584C>T, XM_017023156.3:c.584C>G, XM_017023156.2:c.584C>T, XM_017023156.2:c.584C>G, XM_017023156.1:c.584C>T, XM_017023156.1:c.584C>G, NM_001004060.2:c.584C>T, NM_001004060.2:c.584C>G, NM_001004060.1:c.584C>T, NM_001004060.1:c.584C>G, NP_775885.1:p.Ala195Val, NP_775885.1:p.Ala195Gly, XP_016878645.1:p.Ala195Val, XP_016878645.1:p.Ala195Gly, NP_001004060.1:p.Ala195Val, NP_001004060.1:p.Ala195Gly

Select item 14872814574.

rs1487281457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:18519286 (GRCh38)
16:18530608 (GRCh37)
Canonical SPDI:: NC_000016.10:18519285:T:C
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000016.10:g.18519286T>C, NC_000016.9:g.18530608T>C, NM_173614.4:c.2586A>G, NM_173614.3:c.2586A>G, NM_173614.2:c.2586A>G, NM_001004060.2:c.2586A>G, NM_001004060.1:c.2586A>G

Select item 14868025305.

rs1486802530 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:18520661 (GRCh38)
16:18531983 (GRCh37)
Canonical SPDI:: NC_000016.10:18520660:AG:
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.18520661_18520662del, NC_000016.9:g.18531983_18531984del, NM_173614.4:c.2291_2292del, NM_173614.3:c.2291_2292del, NM_173614.2:c.2291_2292del, NM_001004060.2:c.2291_2292del, NM_001004060.1:c.2291_2292del, NP_775885.1:p.Thr764fs, NP_001004060.1:p.Thr764fs

Select item 14864021416.

rs1486402141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:18524550 (GRCh38)
16:18535872 (GRCh37)
Canonical SPDI:: NC_000016.10:18524549:C:T
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/3 (GnomAD)
HGVS:: NC_000016.10:g.18524550C>T, NC_000016.9:g.18535872C>T, NM_173614.4:c.1897G>A, NM_173614.3:c.1897G>A, NM_173614.2:c.1897G>A, NM_001004060.2:c.1897G>A, NM_001004060.1:c.1897G>A, NP_775885.1:p.Val633Met, NP_001004060.1:p.Val633Met

Select item 14859190837.

rs1485919083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:18551457 (GRCh38)
16:18562779 (GRCh37)
Canonical SPDI:: NC_000016.10:18551456:C:A
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000017/2 (GnomAD)
HGVS:: NC_000016.10:g.18551457C>A, NC_000016.9:g.18562779C>A, NM_173614.4:c.384G>T, NM_173614.3:c.384G>T, NM_173614.2:c.384G>T, XM_017023156.3:c.384G>T, XM_017023156.2:c.384G>T, XM_017023156.1:c.384G>T, NM_001004060.2:c.384G>T, NM_001004060.1:c.384G>T

Select item 14857446348.

rs1485744634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:18529628 (GRCh38)
16:18540950 (GRCh37)
Canonical SPDI:: NC_000016.10:18529627:A:G,NC_000016.10:18529627:A:T
Gene:: NOMO2 (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)
G=0.000025/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.18529628A>G, NC_000016.10:g.18529628A>T, NC_000016.9:g.18540950A>G, NC_000016.9:g.18540950A>T, NM_173614.4:c.1679T>C, NM_173614.4:c.1679T>A, NM_173614.3:c.1679T>C, NM_173614.3:c.1679T>A, NM_173614.2:c.1679T>C, NM_173614.2:c.1679T>A, XM_017023156.3:c.1679T>C, XM_017023156.3:c.1679T>A, XM_017023156.2:c.1679T>C, XM_017023156.2:c.1679T>A, XM_017023156.1:c.1679T>C, XM_017023156.1:c.1679T>A, NM_001004060.2:c.1679T>C, NM_001004060.2:c.1679T>A, NM_001004060.1:c.1679T>C, NM_001004060.1:c.1679T>A, NP_775885.1:p.Met560Thr, NP_775885.1:p.Met560Lys, XP_016878645.1:p.Met560Thr, XP_016878645.1:p.Met560Lys, NP_001004060.1:p.Met560Thr, NP_001004060.1:p.Met560Lys

Select item 14854850249.

rs1485485024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:18561912 (GRCh38)
16:18573234 (GRCh37)
Canonical SPDI:: NC_000016.10:18561911:G:A,NC_000016.10:18561911:G:C
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000035/6 (GnomAD_exomes)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000016.10:g.18561912G>A, NC_000016.10:g.18561912G>C, NC_000016.9:g.18573234G>A, NC_000016.9:g.18573234G>C, NM_173614.4:c.129C>T, NM_173614.4:c.129C>G, NM_173614.3:c.129C>T, NM_173614.3:c.129C>G, NM_173614.2:c.129C>T, NM_173614.2:c.129C>G, XM_017023156.3:c.129C>T, XM_017023156.3:c.129C>G, XM_017023156.2:c.129C>T, XM_017023156.2:c.129C>G, XM_017023156.1:c.129C>T, XM_017023156.1:c.129C>G, NM_001004060.2:c.129C>T, NM_001004060.2:c.129C>G, NM_001004060.1:c.129C>T, NM_001004060.1:c.129C>G

Select item 148536062410.

rs1485360624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:18531068 (GRCh38)
16:18542390 (GRCh37)
Canonical SPDI:: NC_000016.10:18531067:G:C
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.18531068G>C, NC_000016.9:g.18542390G>C, NM_173614.4:c.1638C>G, NM_173614.3:c.1638C>G, NM_173614.2:c.1638C>G, XM_017023156.3:c.1638C>G, XM_017023156.2:c.1638C>G, XM_017023156.1:c.1638C>G, NM_001004060.2:c.1638C>G, NM_001004060.1:c.1638C>G

Select item 148523565811.

rs1485235658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:18549566 (GRCh38)
16:18560888 (GRCh37)
Canonical SPDI:: NC_000016.10:18549565:C:T
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.18549566C>T, NC_000016.9:g.18560888C>T, NM_173614.4:c.464G>A, NM_173614.3:c.464G>A, NM_173614.2:c.464G>A, XM_017023156.3:c.464G>A, XM_017023156.2:c.464G>A, XM_017023156.1:c.464G>A, NM_001004060.2:c.464G>A, NM_001004060.1:c.464G>A, NP_775885.1:p.Gly155Glu, XP_016878645.1:p.Gly155Glu, NP_001004060.1:p.Gly155Glu

Select item 148434060312.

rs1484340603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:18529600 (GRCh38)
16:18540922 (GRCh37)
Canonical SPDI:: NC_000016.10:18529599:C:T
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.18529600C>T, NC_000016.9:g.18540922C>T, NM_173614.4:c.1707G>A, NM_173614.3:c.1707G>A, NM_173614.2:c.1707G>A, XM_017023156.3:c.1707G>A, XM_017023156.2:c.1707G>A, XM_017023156.1:c.1707G>A, NM_001004060.2:c.1707G>A, NM_001004060.1:c.1707G>A

Select item 148185143713.

rs1481851437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:18520827 (GRCh38)
16:18532149 (GRCh37)
Canonical SPDI:: NC_000016.10:18520826:G:A,NC_000016.10:18520826:G:T
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.18520827G>A, NC_000016.10:g.18520827G>T, NC_000016.9:g.18532149G>A, NC_000016.9:g.18532149G>T, NM_173614.4:c.2211C>T, NM_173614.4:c.2211C>A, NM_173614.3:c.2211C>T, NM_173614.3:c.2211C>A, NM_173614.2:c.2211C>T, NM_173614.2:c.2211C>A, NM_001004060.2:c.2211C>T, NM_001004060.2:c.2211C>A, NM_001004060.1:c.2211C>T, NM_001004060.1:c.2211C>A

Select item 148182747814.

rs1481827478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:18542667 (GRCh38)
16:18553989 (GRCh37)
Canonical SPDI:: NC_000016.10:18542666:T:A,NC_000016.10:18542666:T:C
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.001164/9 (GnomAD_exomes)
C=0.003599/404 (GnomAD)
C=0.003748/24 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.18542667T>A, NC_000016.10:g.18542667T>C, NC_000016.9:g.18553989T>A, NC_000016.9:g.18553989T>C, NM_173614.4:c.800A>T, NM_173614.4:c.800A>G, NM_173614.3:c.800A>T, NM_173614.3:c.800A>G, NM_173614.2:c.800A>T, NM_173614.2:c.800A>G, XM_017023156.3:c.800A>T, XM_017023156.3:c.800A>G, XM_017023156.2:c.800A>T, XM_017023156.2:c.800A>G, XM_017023156.1:c.800A>T, XM_017023156.1:c.800A>G, NM_001004060.2:c.800A>T, NM_001004060.2:c.800A>G, NM_001004060.1:c.800A>T, NM_001004060.1:c.800A>G, NP_775885.1:p.Tyr267Phe, NP_775885.1:p.Tyr267Cys, XP_016878645.1:p.Tyr267Phe, XP_016878645.1:p.Tyr267Cys, NP_001004060.1:p.Tyr267Phe, NP_001004060.1:p.Tyr267Cys

Select item 148173669315.

rs1481736693 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:18524542 (GRCh38)
16:18535864 (GRCh37)
Canonical SPDI:: NC_000016.10:18524541:TTT:TT
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000016.10:g.18524544del, NC_000016.9:g.18535866del, NM_173614.4:c.1905del, NM_173614.3:c.1905del, NM_173614.2:c.1905del, NM_001004060.2:c.1905del, NM_001004060.1:c.1905del, NP_775885.1:p.Lys635_Val636insTer, NP_001004060.1:p.Lys635_Val636insTer

Select item 148079496116.

rs1480794961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:18547267 (GRCh38)
16:18558589 (GRCh37)
Canonical SPDI:: NC_000016.10:18547266:A:C
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00302/54 (ALFA)
C=0.00287/260 (GnomAD)
C=0.00328/21 (1000Genomes)
C=0.00377/131 (GnomAD_exomes)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000016.10:g.18547267A>C, NC_000016.9:g.18558589A>C, NM_173614.4:c.543T>G, NM_173614.3:c.543T>G, NM_173614.2:c.543T>G, XM_017023156.3:c.543T>G, XM_017023156.2:c.543T>G, XM_017023156.1:c.543T>G, NM_001004060.2:c.543T>G, NM_001004060.1:c.543T>G, NP_775885.1:p.Tyr181Ter, XP_016878645.1:p.Tyr181Ter, NP_001004060.1:p.Tyr181Ter

Select item 148038284017.

rs1480382840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:18554850 (GRCh38)
16:18566172 (GRCh37)
Canonical SPDI:: NC_000016.10:18554849:C:A
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000016.10:g.18554850C>A, NC_000016.9:g.18566172C>A, NM_173614.4:c.258G>T, NM_173614.3:c.258G>T, NM_173614.2:c.258G>T, XM_017023156.3:c.258G>T, XM_017023156.2:c.258G>T, XM_017023156.1:c.258G>T, NM_001004060.2:c.258G>T, NM_001004060.1:c.258G>T

Select item 148031230318.

rs1480312303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:18531098 (GRCh38)
16:18542420 (GRCh37)
Canonical SPDI:: NC_000016.10:18531097:G:A
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.18531098G>A, NC_000016.9:g.18542420G>A, NM_173614.4:c.1608C>T, NM_173614.3:c.1608C>T, NM_173614.2:c.1608C>T, XM_017023156.3:c.1608C>T, XM_017023156.2:c.1608C>T, XM_017023156.1:c.1608C>T, NM_001004060.2:c.1608C>T, NM_001004060.1:c.1608C>T

Select item 147988140719.

rs1479881407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:18562010 (GRCh38)
16:18573332 (GRCh37)
Canonical SPDI:: NC_000016.10:18562009:C:A
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.18562010C>A, NC_000016.9:g.18573332C>A, NM_173614.4:c.31G>T, NM_173614.3:c.31G>T, NM_173614.2:c.31G>T, XM_017023156.3:c.31G>T, XM_017023156.2:c.31G>T, XM_017023156.1:c.31G>T, NM_001004060.2:c.31G>T, NM_001004060.1:c.31G>T, NP_775885.1:p.Gly11Trp, XP_016878645.1:p.Gly11Trp, NP_001004060.1:p.Gly11Trp

Select item 147789089420.

rs1477890894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:18513382 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:18513381:C:T
Gene:: NOMO2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.18513382C>T, NM_173614.4:c.3079G>A, NM_173614.3:c.3079G>A, NM_173614.2:c.3079G>A, NM_001004060.2:c.3079G>A, NM_001004060.1:c.3079G>A, NP_775885.1:p.Glu1027Lys, NP_001004060.1:p.Glu1027Lys

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