SNP Links for Protein (Select 1034573013) - SNP

Links from Protein

Items: 1 to 20 of 226

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Select item 14846477611.

rs1484647761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66422215 (GRCh38)
11:66189686 (GRCh37)
Canonical SPDI:: NC_000011.10:66422214:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66422215G>A, NC_000011.9:g.66189686G>A, NM_178864.4:c.271G>A, NM_178864.3:c.271G>A, XM_047426764.1:c.502G>A, XM_047426765.1:c.502G>A, NM_001318804.1:c.-250G>A, XM_017017539.1:c.271G>A, NP_849195.2:p.Glu91Lys, XP_047282720.1:p.Glu168Lys, XP_047282721.1:p.Glu168Lys, XP_016873028.1:p.Glu91Lys

Select item 14814481052.

rs1481448105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66422761 (GRCh38)
11:66190232 (GRCh37)
Canonical SPDI:: NC_000011.10:66422760:T:C
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66422761T>C, NC_000011.9:g.66190232T>C, NM_178864.4:c.518T>C, NM_178864.3:c.518T>C, XM_047426764.1:c.749T>C, XM_047426765.1:c.749T>C, NM_001318804.1:c.-3T>C, XM_017017539.1:c.518T>C, NP_849195.2:p.Phe173Ser, XP_047282720.1:p.Phe250Ser, XP_047282721.1:p.Phe250Ser, XP_016873028.1:p.Phe173Ser

Select item 14802388803.

rs1480238880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66422745 (GRCh38)
11:66190216 (GRCh37)
Canonical SPDI:: NC_000011.10:66422744:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66422745C>T, NC_000011.9:g.66190216C>T, NM_178864.4:c.502C>T, NM_178864.3:c.502C>T, XM_047426764.1:c.733C>T, XM_047426765.1:c.733C>T, NM_001318804.1:c.-19C>T, XM_017017539.1:c.502C>T, NP_849195.2:p.Leu168Phe, XP_047282720.1:p.Leu245Phe, XP_047282721.1:p.Leu245Phe, XP_016873028.1:p.Leu168Phe

Select item 14794562044.

rs1479456204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66421203 (GRCh38)
11:66188674 (GRCh37)
Canonical SPDI:: NC_000011.10:66421202:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.66421203C>T, NC_000011.9:g.66188674C>T, NM_178864.4:c.24C>T, NM_178864.3:c.24C>T, XM_047426764.1:c.255C>T, XM_047426765.1:c.255C>T, NM_001318804.1:c.-497C>T, XM_017017539.1:c.24C>T

Select item 14781723605.

rs1478172360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66421337 (GRCh38)
11:66188808 (GRCh37)
Canonical SPDI:: NC_000011.10:66421336:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66421337G>A, NC_000011.9:g.66188808G>A, NM_178864.4:c.158G>A, NM_178864.3:c.158G>A, XM_047426764.1:c.389G>A, XM_047426765.1:c.389G>A, NM_001318804.1:c.-363G>A, XM_017017539.1:c.158G>A, NP_849195.2:p.Gly53Asp, XP_047282720.1:p.Gly130Asp, XP_047282721.1:p.Gly130Asp, XP_016873028.1:p.Gly53Asp

Select item 14714158806.

rs1471415880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66422146 (GRCh38)
11:66189617 (GRCh37)
Canonical SPDI:: NC_000011.10:66422145:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66422146C>T, NC_000011.9:g.66189617C>T, NM_178864.4:c.202C>T, NM_178864.3:c.202C>T, XM_047426764.1:c.433C>T, XM_047426765.1:c.433C>T, NM_001318804.1:c.-319C>T, XM_017017539.1:c.202C>T, NP_849195.2:p.Leu68Phe, XP_047282720.1:p.Leu145Phe, XP_047282721.1:p.Leu145Phe, XP_016873028.1:p.Leu68Phe

Select item 14710543237.

rs1471054323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66422692 (GRCh38)
11:66190163 (GRCh37)
Canonical SPDI:: NC_000011.10:66422691:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66422692G>A, NC_000011.9:g.66190163G>A, NM_178864.4:c.449G>A, NM_178864.3:c.449G>A, XM_047426764.1:c.680G>A, XM_047426765.1:c.680G>A, NM_001318804.1:c.-72G>A, XM_017017539.1:c.449G>A, NP_849195.2:p.Arg150His, XP_047282720.1:p.Arg227His, XP_047282721.1:p.Arg227His, XP_016873028.1:p.Arg150His

Select item 14694074658.

rs1469407465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66421199 (GRCh38)
11:66188670 (GRCh37)
Canonical SPDI:: NC_000011.10:66421198:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66421199G>A, NC_000011.9:g.66188670G>A, NM_178864.4:c.20G>A, NM_178864.3:c.20G>A, XM_047426764.1:c.251G>A, XM_047426765.1:c.251G>A, NM_001318804.1:c.-501G>A, XM_017017539.1:c.20G>A, NP_849195.2:p.Gly7Asp, XP_047282720.1:p.Gly84Asp, XP_047282721.1:p.Gly84Asp, XP_016873028.1:p.Gly7Asp

Select item 14601062479.

rs1460106247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66422205 (GRCh38)
11:66189676 (GRCh37)
Canonical SPDI:: NC_000011.10:66422204:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66422205G>A, NC_000011.9:g.66189676G>A, NM_178864.4:c.261G>A, NM_178864.3:c.261G>A, XM_047426764.1:c.492G>A, XM_047426765.1:c.492G>A, NM_001318804.1:c.-260G>A, XM_017017539.1:c.261G>A

Select item 145788728510.

rs1457887285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66421186 (GRCh38)
11:66188657 (GRCh37)
Canonical SPDI:: NC_000011.10:66421185:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000011.10:g.66421186C>T, NC_000011.9:g.66188657C>T, NM_178864.4:c.7C>T, NM_178864.3:c.7C>T, XM_047426764.1:c.238C>T, XM_047426765.1:c.238C>T, NM_001318804.1:c.-514C>T, XM_017017539.1:c.7C>T, NP_849195.2:p.Arg3Cys, XP_047282720.1:p.Arg80Cys, XP_047282721.1:p.Arg80Cys, XP_016873028.1:p.Arg3Cys

Select item 145293286511.

rs1452932865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66422922 (GRCh38)
11:66190393 (GRCh37)
Canonical SPDI:: NC_000011.10:66422921:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66422922C>T, NC_000011.9:g.66190393C>T, NM_178864.4:c.679C>T, NM_178864.3:c.679C>T, XM_047426764.1:c.910C>T, XM_047426765.1:c.910C>T, NM_001318804.1:c.159C>T, XM_017017539.1:c.679C>T

Select item 145147683512.

rs1451476835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66422169 (GRCh38)
11:66189640 (GRCh37)
Canonical SPDI:: NC_000011.10:66422168:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66422169G>A, NC_000011.9:g.66189640G>A, NM_178864.4:c.225G>A, NM_178864.3:c.225G>A, XM_047426764.1:c.456G>A, XM_047426765.1:c.456G>A, NM_001318804.1:c.-296G>A, XM_017017539.1:c.225G>A

Select item 143783806313.

rs1437838063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:66422153 (GRCh38)
11:66189624 (GRCh37)
Canonical SPDI:: NC_000011.10:66422152:C:A,NC_000011.10:66422152:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66422153C>A, NC_000011.10:g.66422153C>T, NC_000011.9:g.66189624C>A, NC_000011.9:g.66189624C>T, NM_178864.4:c.209C>A, NM_178864.4:c.209C>T, NM_178864.3:c.209C>A, NM_178864.3:c.209C>T, XM_047426764.1:c.440C>A, XM_047426764.1:c.440C>T, XM_047426765.1:c.440C>A, XM_047426765.1:c.440C>T, NM_001318804.1:c.-312C>A, NM_001318804.1:c.-312C>T, XM_017017539.1:c.209C>A, XM_017017539.1:c.209C>T, NP_849195.2:p.Ser70Ter, NP_849195.2:p.Ser70Leu, XP_047282720.1:p.Ser147Ter, XP_047282720.1:p.Ser147Leu, XP_047282721.1:p.Ser147Ter, XP_047282721.1:p.Ser147Leu, XP_016873028.1:p.Ser70Ter, XP_016873028.1:p.Ser70Leu

Select item 143233263414.

rs1432332634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66422858 (GRCh38)
11:66190329 (GRCh37)
Canonical SPDI:: NC_000011.10:66422857:T:C
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66422858T>C, NC_000011.9:g.66190329T>C, NM_178864.4:c.615T>C, NM_178864.3:c.615T>C, XM_047426764.1:c.846T>C, XM_047426765.1:c.846T>C, NM_001318804.1:c.95T>C, XM_017017539.1:c.615T>C, NP_001305733.1:p.Leu32Pro

Select item 143009610115.

rs1430096101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66422691 (GRCh38)
11:66190162 (GRCh37)
Canonical SPDI:: NC_000011.10:66422690:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.66422691C>T, NC_000011.9:g.66190162C>T, NM_178864.4:c.448C>T, NM_178864.3:c.448C>T, XM_047426764.1:c.679C>T, XM_047426765.1:c.679C>T, NM_001318804.1:c.-73C>T, XM_017017539.1:c.448C>T, NP_849195.2:p.Arg150Cys, XP_047282720.1:p.Arg227Cys, XP_047282721.1:p.Arg227Cys, XP_016873028.1:p.Arg150Cys

Select item 142870311616.

rs1428703116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66421212 (GRCh38)
11:66188683 (GRCh37)
Canonical SPDI:: NC_000011.10:66421211:G:A,NC_000011.10:66421211:G:T
Gene:: NPAS4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66421212G>A, NC_000011.10:g.66421212G>T, NC_000011.9:g.66188683G>A, NC_000011.9:g.66188683G>T, NM_178864.4:c.33G>A, NM_178864.4:c.33G>T, NM_178864.3:c.33G>A, NM_178864.3:c.33G>T, XM_047426764.1:c.264G>A, XM_047426764.1:c.264G>T, XM_047426765.1:c.264G>A, XM_047426765.1:c.264G>T, NM_001318804.1:c.-488G>A, NM_001318804.1:c.-488G>T, XM_017017539.1:c.33G>A, XM_017017539.1:c.33G>T

Select item 142868562817.

rs1428685628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66422921 (GRCh38)
11:66190392 (GRCh37)
Canonical SPDI:: NC_000011.10:66422920:T:C
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_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_000011.10:g.66422921T>C, NC_000011.9:g.66190392T>C, NM_178864.4:c.678T>C, NM_178864.3:c.678T>C, XM_047426764.1:c.909T>C, XM_047426765.1:c.909T>C, NM_001318804.1:c.158T>C, XM_017017539.1:c.678T>C, NP_001305733.1:p.Leu53Pro

Select item 142716038718.

rs1427160387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66421201 (GRCh38)
11:66188672 (GRCh37)
Canonical SPDI:: NC_000011.10:66421200:G:A,NC_000011.10:66421200:G:T
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.66421201G>A, NC_000011.10:g.66421201G>T, NC_000011.9:g.66188672G>A, NC_000011.9:g.66188672G>T, NM_178864.4:c.22G>A, NM_178864.4:c.22G>T, NM_178864.3:c.22G>A, NM_178864.3:c.22G>T, XM_047426764.1:c.253G>A, XM_047426764.1:c.253G>T, XM_047426765.1:c.253G>A, XM_047426765.1:c.253G>T, NM_001318804.1:c.-499G>A, NM_001318804.1:c.-499G>T, XM_017017539.1:c.22G>A, XM_017017539.1:c.22G>T, NP_849195.2:p.Ala8Thr, NP_849195.2:p.Ala8Ser, XP_047282720.1:p.Ala85Thr, XP_047282720.1:p.Ala85Ser, XP_047282721.1:p.Ala85Thr, XP_047282721.1:p.Ala85Ser, XP_016873028.1:p.Ala8Thr, XP_016873028.1:p.Ala8Ser

Select item 142330271719.

rs1423302717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66422851 (GRCh38)
11:66190322 (GRCh37)
Canonical SPDI:: NC_000011.10:66422850:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.66422851C>T, NC_000011.9:g.66190322C>T, NM_178864.4:c.608C>T, NM_178864.3:c.608C>T, XM_047426764.1:c.839C>T, XM_047426765.1:c.839C>T, NM_001318804.1:c.88C>T, XM_017017539.1:c.608C>T, NP_849195.2:p.Pro203Leu, XP_047282720.1:p.Pro280Leu, XP_047282721.1:p.Pro280Leu, XP_016873028.1:p.Pro203Leu

Select item 141843185620.

rs1418431856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66422685 (GRCh38)
11:66190156 (GRCh37)
Canonical SPDI:: NC_000011.10:66422684:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66422685C>T, NC_000011.9:g.66190156C>T, NM_178864.4:c.442C>T, NM_178864.3:c.442C>T, XM_047426764.1:c.673C>T, XM_047426765.1:c.673C>T, NM_001318804.1:c.-79C>T, XM_017017539.1:c.442C>T, NP_849195.2:p.Arg148Cys, XP_047282720.1:p.Arg225Cys, XP_047282721.1:p.Arg225Cys, XP_016873028.1:p.Arg148Cys

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