SNP Links for Protein (Select 300116159) - SNP

Select item 14899219371.

rs1489921937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:147975920 (GRCh38)
2:148733489 (GRCh37)
Canonical SPDI:: NC_000002.12:147975919:G:A
Gene:: ORC4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147975920G>A, NC_000002.11:g.148733489G>A, NG_028252.1:g.50685C>T, NM_002552.5:c.39C>T, NM_002552.4:c.39C>T, NM_181741.4:c.39C>T, NM_181741.3:c.39C>T, NM_181742.4:c.39C>T, NM_181742.3:c.39C>T, NM_001190879.3:c.39C>T, NM_001190879.2:c.39C>T, NM_001374270.1:c.39C>T, NM_001374272.1:c.-279C>T, XM_011511255.3:c.39C>T, XM_011511255.2:c.39C>T, XM_011511255.1:c.39C>T, XM_047444573.1:c.39C>T

Select item 14896481072.

rs1489648107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:147948117 (GRCh38)
2:148705686 (GRCh37)
Canonical SPDI:: NC_000002.12:147948116:T:A
Gene:: ORC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147948117T>A, NC_000002.11:g.148705686T>A, NG_028252.1:g.78488A>T, NM_002552.5:c.696A>T, NM_002552.4:c.696A>T, NM_181741.4:c.696A>T, NM_181741.3:c.696A>T, NM_181742.4:c.696A>T, NM_181742.3:c.696A>T, NM_001190879.3:c.696A>T, NM_001190879.2:c.696A>T, NM_001190882.3:c.474A>T, NM_001190882.2:c.474A>T, NM_001190881.3:c.444A>T, NM_001190881.2:c.444A>T, NM_001374270.1:c.696A>T, NM_001374272.1:c.444A>T, XM_011511255.3:c.696A>T, XM_011511255.2:c.696A>T, XM_011511255.1:c.696A>T, XM_047444573.1:c.696A>T, NP_002543.2:p.Glu232Asp, NP_859525.1:p.Glu232Asp, NP_859526.1:p.Glu232Asp, NP_001177808.1:p.Glu232Asp, NP_001177811.1:p.Glu158Asp, NP_001177810.1:p.Glu148Asp, NP_001361199.1:p.Glu232Asp, NP_001361201.1:p.Glu148Asp, XP_011509557.1:p.Glu232Asp, XP_047300529.1:p.Glu232Asp

Select item 14870414553.

rs1487041455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:147935621 (GRCh38)
2:148693190 (GRCh37)
Canonical SPDI:: NC_000002.12:147935620:C:T
Gene:: ORC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147935621C>T, NC_000002.11:g.148693190C>T, NG_028252.1:g.90984G>A, NM_002552.5:c.1200G>A, NM_002552.4:c.1200G>A, NM_181741.4:c.1200G>A, NM_181741.3:c.1200G>A, NM_181742.4:c.1200G>A, NM_181742.3:c.1200G>A, NM_001190879.3:c.1200G>A, NM_001190879.2:c.1200G>A, NM_001190882.3:c.978G>A, NM_001190882.2:c.978G>A, NM_001190881.3:c.948G>A, NM_001190881.2:c.948G>A, NM_001374270.1:c.1200G>A, NM_001374272.1:c.948G>A, XM_011511255.3:c.1200G>A, XM_011511255.2:c.1200G>A, XM_011511255.1:c.1200G>A

Select item 14832168494.

rs1483216849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:147952453 (GRCh38)
2:148710022 (GRCh37)
Canonical SPDI:: NC_000002.12:147952452:G:C
Gene:: ORC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147952453G>C, NC_000002.11:g.148710022G>C, NG_028252.1:g.74152C>G, NM_002552.5:c.508C>G, NM_002552.4:c.508C>G, NM_181741.4:c.508C>G, NM_181741.3:c.508C>G, NM_181742.4:c.508C>G, NM_181742.3:c.508C>G, NM_001190879.3:c.508C>G, NM_001190879.2:c.508C>G, NM_001190882.3:c.286C>G, NM_001190882.2:c.286C>G, NM_001190881.3:c.256C>G, NM_001190881.2:c.256C>G, NM_001374270.1:c.508C>G, NM_001374272.1:c.256C>G, XM_011511255.3:c.508C>G, XM_011511255.2:c.508C>G, XM_011511255.1:c.508C>G, XM_047444573.1:c.508C>G, NP_002543.2:p.Gln170Glu, NP_859525.1:p.Gln170Glu, NP_859526.1:p.Gln170Glu, NP_001177808.1:p.Gln170Glu, NP_001177811.1:p.Gln96Glu, NP_001177810.1:p.Gln86Glu, NP_001361199.1:p.Gln170Glu, NP_001361201.1:p.Gln86Glu, XP_011509557.1:p.Gln170Glu, XP_047300529.1:p.Gln170Glu

Select item 14830843305.

rs1483084330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:147943484 (GRCh38)
2:148701053 (GRCh37)
Canonical SPDI:: NC_000002.12:147943483:C:T
Gene:: ORC4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.147943484C>T, NC_000002.11:g.148701053C>T, NG_028252.1:g.83121G>A, NM_002552.5:c.801G>A, NM_002552.4:c.801G>A, NM_181741.4:c.801G>A, NM_181741.3:c.801G>A, NM_181742.4:c.801G>A, NM_181742.3:c.801G>A, NM_001190879.3:c.801G>A, NM_001190879.2:c.801G>A, NM_001190882.3:c.579G>A, NM_001190882.2:c.579G>A, NM_001190881.3:c.549G>A, NM_001190881.2:c.549G>A, NM_001374270.1:c.801G>A, NM_001374272.1:c.549G>A, XM_011511255.3:c.801G>A, XM_011511255.2:c.801G>A, XM_011511255.1:c.801G>A, XM_047444573.1:c.801G>A

Select item 14817075416.

rs1481707541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:147972765 (GRCh38)
2:148730334 (GRCh37)
Canonical SPDI:: NC_000002.12:147972764:C:T
Gene:: ORC4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.147972765C>T, NC_000002.11:g.148730334C>T, NG_028252.1:g.53840G>A, NM_002552.5:c.199G>A, NM_002552.4:c.199G>A, NM_181741.4:c.199G>A, NM_181741.3:c.199G>A, NM_181742.4:c.199G>A, NM_181742.3:c.199G>A, NM_001190879.3:c.199G>A, NM_001190879.2:c.199G>A, NM_001190882.3:c.-24G>A, NM_001190882.2:c.-24G>A, NM_001374270.1:c.199G>A, NM_001374272.1:c.-119G>A, XM_011511255.3:c.199G>A, XM_011511255.2:c.199G>A, XM_011511255.1:c.199G>A, XM_047444573.1:c.199G>A, NP_002543.2:p.Gly67Arg, NP_859525.1:p.Gly67Arg, NP_859526.1:p.Gly67Arg, NP_001177808.1:p.Gly67Arg, NP_001361199.1:p.Gly67Arg, XP_011509557.1:p.Gly67Arg, XP_047300529.1:p.Gly67Arg

Select item 14812359437.

rs1481235943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147975915 (GRCh38)
2:148733484 (GRCh37)
Canonical SPDI:: NC_000002.12:147975914:T:C
Gene:: ORC4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147975915T>C, NC_000002.11:g.148733484T>C, NG_028252.1:g.50690A>G, NM_002552.5:c.44A>G, NM_002552.4:c.44A>G, NM_181741.4:c.44A>G, NM_181741.3:c.44A>G, NM_181742.4:c.44A>G, NM_181742.3:c.44A>G, NM_001190879.3:c.44A>G, NM_001190879.2:c.44A>G, NM_001374270.1:c.44A>G, NM_001374272.1:c.-274A>G, XM_011511255.3:c.44A>G, XM_011511255.2:c.44A>G, XM_011511255.1:c.44A>G, XM_047444573.1:c.44A>G, NP_002543.2:p.Glu15Gly, NP_859525.1:p.Glu15Gly, NP_859526.1:p.Glu15Gly, NP_001177808.1:p.Glu15Gly, NP_001361199.1:p.Glu15Gly, XP_011509557.1:p.Glu15Gly, XP_047300529.1:p.Glu15Gly

Select item 14809530418.

rs1480953041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:147958341 (GRCh38)
2:148715910 (GRCh37)
Canonical SPDI:: NC_000002.12:147958340:G:C,NC_000002.12:147958340:G:T
Gene:: ORC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147958341G>C, NC_000002.12:g.147958341G>T, NC_000002.11:g.148715910G>C, NC_000002.11:g.148715910G>T, NG_028252.1:g.68264C>G, NG_028252.1:g.68264C>A, NM_002552.5:c.344C>G, NM_002552.5:c.344C>A, NM_002552.4:c.344C>G, NM_002552.4:c.344C>A, NM_181741.4:c.344C>G, NM_181741.4:c.344C>A, NM_181741.3:c.344C>G, NM_181741.3:c.344C>A, NM_181742.4:c.344C>G, NM_181742.4:c.344C>A, NM_181742.3:c.344C>G, NM_181742.3:c.344C>A, NM_001190879.3:c.344C>G, NM_001190879.3:c.344C>A, NM_001190879.2:c.344C>G, NM_001190879.2:c.344C>A, NM_001190882.3:c.122C>G, NM_001190882.3:c.122C>A, NM_001190882.2:c.122C>G, NM_001190882.2:c.122C>A, NM_001190881.3:c.92C>G, NM_001190881.3:c.92C>A, NM_001190881.2:c.92C>G, NM_001190881.2:c.92C>A, NM_001374270.1:c.344C>G, NM_001374270.1:c.344C>A, NM_001374272.1:c.92C>G, NM_001374272.1:c.92C>A, XM_011511255.3:c.344C>G, XM_011511255.3:c.344C>A, XM_011511255.2:c.344C>G, XM_011511255.2:c.344C>A, XM_011511255.1:c.344C>G, XM_011511255.1:c.344C>A, XM_047444573.1:c.344C>G, XM_047444573.1:c.344C>A, NP_002543.2:p.Thr115Arg, NP_002543.2:p.Thr115Lys, NP_859525.1:p.Thr115Arg, NP_859525.1:p.Thr115Lys, NP_859526.1:p.Thr115Arg, NP_859526.1:p.Thr115Lys, NP_001177808.1:p.Thr115Arg, NP_001177808.1:p.Thr115Lys, NP_001177811.1:p.Thr41Arg, NP_001177811.1:p.Thr41Lys, NP_001177810.1:p.Thr31Arg, NP_001177810.1:p.Thr31Lys, NP_001361199.1:p.Thr115Arg, NP_001361199.1:p.Thr115Lys, NP_001361201.1:p.Thr31Arg, NP_001361201.1:p.Thr31Lys, XP_011509557.1:p.Thr115Arg, XP_011509557.1:p.Thr115Lys, XP_047300529.1:p.Thr115Arg, XP_047300529.1:p.Thr115Lys

Select item 14804730999.

rs1480473099 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:147972743 (GRCh38)
2:148730312 (GRCh37)
Canonical SPDI:: NC_000002.12:147972742:G:
Gene:: ORC4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.147972743del, NC_000002.11:g.148730312del, NG_028252.1:g.53862del, NM_002552.5:c.221del, NM_002552.4:c.221del, NM_181741.4:c.221del, NM_181741.3:c.221del, NM_181742.4:c.221del, NM_181742.3:c.221del, NM_001190879.3:c.221del, NM_001190879.2:c.221del, NM_001190882.3:c.-2del, NM_001190882.2:c.-2del, NM_001374270.1:c.221del, NM_001374272.1:c.-97del, XM_011511255.3:c.221del, XM_011511255.2:c.221del, XM_011511255.1:c.221del, XM_047444573.1:c.221del, NP_002543.2:p.Thr74fs, NP_859525.1:p.Thr74fs, NP_859526.1:p.Thr74fs, NP_001177808.1:p.Thr74fs, NP_001361199.1:p.Thr74fs, XP_011509557.1:p.Thr74fs, XP_047300529.1:p.Thr74fs

Select item 147595101310.

rs1475951013 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:147958803 (GRCh38)
2:148716372 (GRCh37)
Canonical SPDI:: NC_000002.12:147958802:C:
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147958803del, NC_000002.11:g.148716372del, NG_028252.1:g.67802del, NM_002552.5:c.289del, NM_002552.4:c.289del, NM_181741.4:c.289del, NM_181741.3:c.289del, NM_181742.4:c.289del, NM_181742.3:c.289del, NM_001190879.3:c.289del, NM_001190879.2:c.289del, NM_001190882.3:c.67del, NM_001190882.2:c.67del, NM_001190881.3:c.37del, NM_001190881.2:c.37del, NM_001374270.1:c.289del, NM_001374272.1:c.37del, XM_011511255.3:c.289del, XM_011511255.2:c.289del, XM_011511255.1:c.289del, XM_047444573.1:c.289del, NP_002543.2:p.Val97fs, NP_859525.1:p.Val97fs, NP_859526.1:p.Val97fs, NP_001177808.1:p.Val97fs, NP_001177811.1:p.Val23fs, NP_001177810.1:p.Val13fs, NP_001361199.1:p.Val97fs, NP_001361201.1:p.Val13fs, XP_011509557.1:p.Val97fs, XP_047300529.1:p.Val97fs

Select item 147420445111.

rs1474204451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:147938199 (GRCh38)
2:148695768 (GRCh37)
Canonical SPDI:: NC_000002.12:147938198:C:A
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147938199C>A, NC_000002.11:g.148695768C>A, NG_028252.1:g.88406G>T, NM_002552.5:c.1069G>T, NM_002552.4:c.1069G>T, NM_181741.4:c.1069G>T, NM_181741.3:c.1069G>T, NM_181742.4:c.1069G>T, NM_181742.3:c.1069G>T, NM_001190879.3:c.1069G>T, NM_001190879.2:c.1069G>T, NM_001190882.3:c.847G>T, NM_001190882.2:c.847G>T, NM_001190881.3:c.817G>T, NM_001190881.2:c.817G>T, NM_001374270.1:c.1069G>T, NM_001374272.1:c.817G>T, XM_011511255.3:c.1069G>T, XM_011511255.2:c.1069G>T, XM_011511255.1:c.1069G>T, NP_002543.2:p.Val357Phe, NP_859525.1:p.Val357Phe, NP_859526.1:p.Val357Phe, NP_001177808.1:p.Val357Phe, NP_001177811.1:p.Val283Phe, NP_001177810.1:p.Val273Phe, NP_001361199.1:p.Val357Phe, NP_001361201.1:p.Val273Phe, XP_011509557.1:p.Val357Phe

Select item 147021923412.

rs1470219234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147938318 (GRCh38)
2:148695887 (GRCh37)
Canonical SPDI:: NC_000002.12:147938317:T:C
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_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_000002.12:g.147938318T>C, NC_000002.11:g.148695887T>C, NG_028252.1:g.88287A>G, NM_002552.5:c.1034A>G, NM_002552.4:c.1034A>G, NM_181741.4:c.1034A>G, NM_181741.3:c.1034A>G, NM_181742.4:c.1034A>G, NM_181742.3:c.1034A>G, NM_001190879.3:c.1034A>G, NM_001190879.2:c.1034A>G, NM_001190882.3:c.812A>G, NM_001190882.2:c.812A>G, NM_001190881.3:c.782A>G, NM_001190881.2:c.782A>G, NM_001374270.1:c.1034A>G, NM_001374272.1:c.782A>G, XM_011511255.3:c.1034A>G, XM_011511255.2:c.1034A>G, XM_011511255.1:c.1034A>G, XM_047444573.1:c.1034A>G, NP_002543.2:p.Asn345Ser, NP_859525.1:p.Asn345Ser, NP_859526.1:p.Asn345Ser, NP_001177808.1:p.Asn345Ser, NP_001177811.1:p.Asn271Ser, NP_001177810.1:p.Asn261Ser, NP_001361199.1:p.Asn345Ser, NP_001361201.1:p.Asn261Ser, XP_011509557.1:p.Asn345Ser, XP_047300529.1:p.Asn345Ser

Select item 146966883313.

rs1469668833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147938189 (GRCh38)
2:148695758 (GRCh37)
Canonical SPDI:: NC_000002.12:147938188:T:C
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.147938189T>C, NC_000002.11:g.148695758T>C, NG_028252.1:g.88416A>G, NM_002552.5:c.1079A>G, NM_002552.4:c.1079A>G, NM_181741.4:c.1079A>G, NM_181741.3:c.1079A>G, NM_181742.4:c.1079A>G, NM_181742.3:c.1079A>G, NM_001190879.3:c.1079A>G, NM_001190879.2:c.1079A>G, NM_001190882.3:c.857A>G, NM_001190882.2:c.857A>G, NM_001190881.3:c.827A>G, NM_001190881.2:c.827A>G, NM_001374270.1:c.1079A>G, NM_001374272.1:c.827A>G, XM_011511255.3:c.1079A>G, XM_011511255.2:c.1079A>G, XM_011511255.1:c.1079A>G, NP_002543.2:p.Lys360Arg, NP_859525.1:p.Lys360Arg, NP_859526.1:p.Lys360Arg, NP_001177808.1:p.Lys360Arg, NP_001177811.1:p.Lys286Arg, NP_001177810.1:p.Lys276Arg, NP_001361199.1:p.Lys360Arg, NP_001361201.1:p.Lys276Arg, XP_011509557.1:p.Lys360Arg

Select item 146387252714.

rs1463872527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:147939201 (GRCh38)
2:148696770 (GRCh37)
Canonical SPDI:: NC_000002.12:147939200:G:A
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147939201G>A, NC_000002.11:g.148696770G>A, NG_028252.1:g.87404C>T, NM_002552.5:c.897C>T, NM_002552.4:c.897C>T, NM_181741.4:c.897C>T, NM_181741.3:c.897C>T, NM_181742.4:c.897C>T, NM_181742.3:c.897C>T, NM_001190879.3:c.897C>T, NM_001190879.2:c.897C>T, NM_001190882.3:c.675C>T, NM_001190882.2:c.675C>T, NM_001190881.3:c.645C>T, NM_001190881.2:c.645C>T, NM_001374270.1:c.897C>T, NM_001374272.1:c.645C>T, XM_011511255.3:c.897C>T, XM_011511255.2:c.897C>T, XM_011511255.1:c.897C>T, XM_047444573.1:c.897C>T

Select item 146027290515.

rs1460272905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:147952467 (GRCh38)
2:148710036 (GRCh37)
Canonical SPDI:: NC_000002.12:147952466:G:A
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147952467G>A, NC_000002.11:g.148710036G>A, NG_028252.1:g.74138C>T, NM_002552.5:c.494C>T, NM_002552.4:c.494C>T, NM_181741.4:c.494C>T, NM_181741.3:c.494C>T, NM_181742.4:c.494C>T, NM_181742.3:c.494C>T, NM_001190879.3:c.494C>T, NM_001190879.2:c.494C>T, NM_001190882.3:c.272C>T, NM_001190882.2:c.272C>T, NM_001190881.3:c.242C>T, NM_001190881.2:c.242C>T, NM_001374270.1:c.494C>T, NM_001374272.1:c.242C>T, XM_011511255.3:c.494C>T, XM_011511255.2:c.494C>T, XM_011511255.1:c.494C>T, XM_047444573.1:c.494C>T, NP_002543.2:p.Ala165Val, NP_859525.1:p.Ala165Val, NP_859526.1:p.Ala165Val, NP_001177808.1:p.Ala165Val, NP_001177811.1:p.Ala91Val, NP_001177810.1:p.Ala81Val, NP_001361199.1:p.Ala165Val, NP_001361201.1:p.Ala81Val, XP_011509557.1:p.Ala165Val, XP_047300529.1:p.Ala165Val

Select item 146023020516.

rs1460230205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:147952382 (GRCh38)
2:148709951 (GRCh37)
Canonical SPDI:: NC_000002.12:147952381:T:A,NC_000002.12:147952381:T:G
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147952382T>A, NC_000002.12:g.147952382T>G, NC_000002.11:g.148709951T>A, NC_000002.11:g.148709951T>G, NG_028252.1:g.74223A>T, NG_028252.1:g.74223A>C, NM_002552.5:c.579A>T, NM_002552.5:c.579A>C, NM_002552.4:c.579A>T, NM_002552.4:c.579A>C, NM_181741.4:c.579A>T, NM_181741.4:c.579A>C, NM_181741.3:c.579A>T, NM_181741.3:c.579A>C, NM_181742.4:c.579A>T, NM_181742.4:c.579A>C, NM_181742.3:c.579A>T, NM_181742.3:c.579A>C, NM_001190879.3:c.579A>T, NM_001190879.3:c.579A>C, NM_001190879.2:c.579A>T, NM_001190879.2:c.579A>C, NM_001190882.3:c.357A>T, NM_001190882.3:c.357A>C, NM_001190882.2:c.357A>T, NM_001190882.2:c.357A>C, NM_001190881.3:c.327A>T, NM_001190881.3:c.327A>C, NM_001190881.2:c.327A>T, NM_001190881.2:c.327A>C, NM_001374270.1:c.579A>T, NM_001374270.1:c.579A>C, NM_001374272.1:c.327A>T, NM_001374272.1:c.327A>C, XM_011511255.3:c.579A>T, XM_011511255.3:c.579A>C, XM_011511255.2:c.579A>T, XM_011511255.2:c.579A>C, XM_011511255.1:c.579A>T, XM_011511255.1:c.579A>C, XM_047444573.1:c.579A>T, XM_047444573.1:c.579A>C

Select item 145403234917.

rs1454032349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147973514 (GRCh38)
2:148731083 (GRCh37)
Canonical SPDI:: NC_000002.12:147973513:A:G
Gene:: ORC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147973514A>G, NC_000002.11:g.148731083A>G, NG_028252.1:g.53091T>C, NM_002552.5:c.68T>C, NM_002552.4:c.68T>C, NM_181741.4:c.68T>C, NM_181741.3:c.68T>C, NM_181742.4:c.68T>C, NM_181742.3:c.68T>C, NM_001190879.3:c.68T>C, NM_001190879.2:c.68T>C, NM_001190882.3:c.-155T>C, NM_001190882.2:c.-155T>C, NM_001374270.1:c.68T>C, NM_001374272.1:c.-250T>C, XM_011511255.3:c.68T>C, XM_011511255.2:c.68T>C, XM_011511255.1:c.68T>C, XM_047444573.1:c.68T>C, NP_002543.2:p.Ile23Thr, NP_859525.1:p.Ile23Thr, NP_859526.1:p.Ile23Thr, NP_001177808.1:p.Ile23Thr, NP_001361199.1:p.Ile23Thr, XP_011509557.1:p.Ile23Thr, XP_047300529.1:p.Ile23Thr

Select item 145276046618.

rs1452760466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:147939188 (GRCh38)
2:148696757 (GRCh37)
Canonical SPDI:: NC_000002.12:147939187:C:T
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147939188C>T, NC_000002.11:g.148696757C>T, NG_028252.1:g.87417G>A, NM_002552.5:c.910G>A, NM_002552.4:c.910G>A, NM_181741.4:c.910G>A, NM_181741.3:c.910G>A, NM_181742.4:c.910G>A, NM_181742.3:c.910G>A, NM_001190879.3:c.910G>A, NM_001190879.2:c.910G>A, NM_001190882.3:c.688G>A, NM_001190882.2:c.688G>A, NM_001190881.3:c.658G>A, NM_001190881.2:c.658G>A, NM_001374270.1:c.910G>A, NM_001374272.1:c.658G>A, XM_011511255.3:c.910G>A, XM_011511255.2:c.910G>A, XM_011511255.1:c.910G>A, XM_047444573.1:c.910G>A, NP_002543.2:p.Glu304Lys, NP_859525.1:p.Glu304Lys, NP_859526.1:p.Glu304Lys, NP_001177808.1:p.Glu304Lys, NP_001177811.1:p.Glu230Lys, NP_001177810.1:p.Glu220Lys, NP_001361199.1:p.Glu304Lys, NP_001361201.1:p.Glu220Lys, XP_011509557.1:p.Glu304Lys, XP_047300529.1:p.Glu304Lys

Select item 145229887419.

rs1452298874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:147958304 (GRCh38)
2:148715873 (GRCh37)
Canonical SPDI:: NC_000002.12:147958303:T:A
Gene:: ORC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.147958304T>A, NC_000002.11:g.148715873T>A, NG_028252.1:g.68301A>T, NM_002552.5:c.381A>T, NM_002552.4:c.381A>T, NM_181741.4:c.381A>T, NM_181741.3:c.381A>T, NM_181742.4:c.381A>T, NM_181742.3:c.381A>T, NM_001190879.3:c.381A>T, NM_001190879.2:c.381A>T, NM_001190882.3:c.159A>T, NM_001190882.2:c.159A>T, NM_001190881.3:c.129A>T, NM_001190881.2:c.129A>T, NM_001374270.1:c.381A>T, NM_001374272.1:c.129A>T, XM_011511255.3:c.381A>T, XM_011511255.2:c.381A>T, XM_011511255.1:c.381A>T, XM_047444573.1:c.381A>T, NP_002543.2:p.Lys127Asn, NP_859525.1:p.Lys127Asn, NP_859526.1:p.Lys127Asn, NP_001177808.1:p.Lys127Asn, NP_001177811.1:p.Lys53Asn, NP_001177810.1:p.Lys43Asn, NP_001361199.1:p.Lys127Asn, NP_001361201.1:p.Lys43Asn, XP_011509557.1:p.Lys127Asn, XP_047300529.1:p.Lys127Asn

Select item 144992205020.

rs1449922050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147943444 (GRCh38)
2:148701013 (GRCh37)
Canonical SPDI:: NC_000002.12:147943443:T:C
Gene:: ORC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001119/5 (ALFA)
C=0.000021/3 (GnomAD)
C=0.001116/5 (Estonian)
HGVS:: NC_000002.12:g.147943444T>C, NC_000002.11:g.148701013T>C, NG_028252.1:g.83161A>G, NM_002552.5:c.841A>G, NM_002552.4:c.841A>G, NM_181741.4:c.841A>G, NM_181741.3:c.841A>G, NM_181742.4:c.841A>G, NM_181742.3:c.841A>G, NM_001190879.3:c.841A>G, NM_001190879.2:c.841A>G, NM_001190882.3:c.619A>G, NM_001190882.2:c.619A>G, NM_001190881.3:c.589A>G, NM_001190881.2:c.589A>G, NM_001374270.1:c.841A>G, NM_001374272.1:c.589A>G, XM_011511255.3:c.841A>G, XM_011511255.2:c.841A>G, XM_011511255.1:c.841A>G, XM_047444573.1:c.841A>G, NP_002543.2:p.Met281Val, NP_859525.1:p.Met281Val, NP_859526.1:p.Met281Val, NP_001177808.1:p.Met281Val, NP_001177811.1:p.Met207Val, NP_001177810.1:p.Met197Val, NP_001361199.1:p.Met281Val, NP_001361201.1:p.Met197Val, XP_011509557.1:p.Met281Val, XP_047300529.1:p.Met281Val

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Result Filters

Clinical Significance

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Annotation

Global MAF

Custom range

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Items: 1 to 20 of 434

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