SNP Links for Protein (Select 116235446) - SNP

Select item 14868510351.

rs1486851035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:100472935 (GRCh38)
15:101013140 (GRCh37)
Canonical SPDI:: NC_000015.10:100472934:T:C
Gene:: CERS3 (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=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.100472935T>C, NC_000015.9:g.101013140T>C, NG_042826.1:g.76786A>G, NM_178842.5:c.727A>G, NM_178842.4:c.727A>G, NM_178842.3:c.727A>G, NM_001290341.2:c.760A>G, NM_001290341.1:c.760A>G, NM_001290342.2:c.727A>G, NM_001290342.1:c.727A>G, NM_001290343.2:c.727A>G, NM_001290343.1:c.727A>G, NM_001378789.1:c.727A>G, XM_011521355.3:c.760A>G, XM_011521355.2:c.760A>G, XM_011521355.1:c.760A>G, XM_011521357.3:c.760A>G, XM_011521357.2:c.760A>G, XM_011521357.1:c.760A>G, XM_017022002.2:c.760A>G, XM_017022002.1:c.760A>G, XM_017022004.2:c.727A>G, XM_017022004.1:c.727A>G, NP_849164.2:p.Ile243Val, NP_001277270.1:p.Ile254Val, NP_001277271.1:p.Ile243Val, NP_001277272.1:p.Ile243Val, NP_001365718.1:p.Ile243Val, XP_011519657.1:p.Ile254Val, XP_011519659.1:p.Ile254Val, XP_016877491.1:p.Ile254Val, XP_016877493.1:p.Ile243Val

Select item 14840017032.

rs1484001703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:100402845 (GRCh38)
15:100943050 (GRCh37)
Canonical SPDI:: NC_000015.10:100402844:A:G
Gene:: CERS3 (Varview), CERS3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.100402845A>G, NC_000015.9:g.100943050A>G, NG_042826.1:g.146876T>C, NM_178842.5:c.1020T>C, NM_178842.4:c.1020T>C, NM_178842.3:c.1020T>C, NM_001290341.2:c.1053T>C, NM_001290341.1:c.1053T>C, NM_001290342.2:c.1020T>C, NM_001290342.1:c.1020T>C, NM_001290343.2:c.1020T>C, NM_001290343.1:c.1020T>C, NM_001378789.1:c.1020T>C, XM_011521355.3:c.1053T>C, XM_011521355.2:c.1053T>C, XM_011521355.1:c.1053T>C, XM_011521357.3:c.1053T>C, XM_011521357.2:c.1053T>C, XM_011521357.1:c.1053T>C, XM_017022002.2:c.1053T>C, XM_017022002.1:c.1053T>C, XM_017022004.2:c.1020T>C, XM_017022004.1:c.1020T>C

Select item 14817709713.

rs1481770971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:100476161 (GRCh38)
15:101016366 (GRCh37)
Canonical SPDI:: NC_000015.10:100476160:C:T
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.100476161C>T, NC_000015.9:g.101016366C>T, NG_042826.1:g.73560G>A, NM_178842.5:c.534G>A, NM_178842.4:c.534G>A, NM_178842.3:c.534G>A, NM_001290341.2:c.567G>A, NM_001290341.1:c.567G>A, NM_001290342.2:c.534G>A, NM_001290342.1:c.534G>A, NM_001290343.2:c.534G>A, NM_001290343.1:c.534G>A, NM_001378789.1:c.534G>A, XM_011521355.3:c.567G>A, XM_011521355.2:c.567G>A, XM_011521355.1:c.567G>A, XM_011521357.3:c.567G>A, XM_011521357.2:c.567G>A, XM_011521357.1:c.567G>A, XM_017022002.2:c.567G>A, XM_017022002.1:c.567G>A, XM_017022004.2:c.534G>A, XM_017022004.1:c.534G>A

Select item 14771055614.

rs1477105561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:100402789 (GRCh38)
15:100942994 (GRCh37)
Canonical SPDI:: NC_000015.10:100402788:C:T
Gene:: CERS3 (Varview), CERS3-AS1 (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 (TOPMED)
HGVS:: NC_000015.10:g.100402789C>T, NC_000015.9:g.100942994C>T, NG_042826.1:g.146932G>A, NM_178842.5:c.1076G>A, NM_178842.4:c.1076G>A, NM_178842.3:c.1076G>A, NM_001290341.2:c.1109G>A, NM_001290341.1:c.1109G>A, NM_001290342.2:c.1076G>A, NM_001290342.1:c.1076G>A, NM_001290343.2:c.1076G>A, NM_001290343.1:c.1076G>A, NM_001378789.1:c.1076G>A, XM_011521355.3:c.1109G>A, XM_011521355.2:c.1109G>A, XM_011521355.1:c.1109G>A, XM_011521357.3:c.1109G>A, XM_011521357.2:c.1109G>A, XM_011521357.1:c.1109G>A, XM_017022002.2:c.1109G>A, XM_017022002.1:c.1109G>A, XM_017022004.2:c.1076G>A, XM_017022004.1:c.1076G>A, NP_849164.2:p.Gly359Asp, NP_001277270.1:p.Gly370Asp, NP_001277271.1:p.Gly359Asp, NP_001277272.1:p.Gly359Asp, NP_001365718.1:p.Gly359Asp, XP_011519657.1:p.Gly370Asp, XP_011519659.1:p.Gly370Asp, XP_016877491.1:p.Gly370Asp, XP_016877493.1:p.Gly359Asp

Select item 14761961895.

rs1476196189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:100501796 (GRCh38)
15:101042001 (GRCh37)
Canonical SPDI:: NC_000015.10:100501795:T:C
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.100501796T>C, NC_000015.9:g.101042001T>C, NG_042826.1:g.47925A>G, NM_178842.5:c.54A>G, NM_178842.4:c.54A>G, NM_178842.3:c.54A>G, NM_001290341.2:c.87A>G, NM_001290341.1:c.87A>G, NM_001290342.2:c.54A>G, NM_001290342.1:c.54A>G, NM_001290343.2:c.54A>G, NM_001290343.1:c.54A>G, NM_001378789.1:c.54A>G, XM_011521355.3:c.87A>G, XM_011521355.2:c.87A>G, XM_011521355.1:c.87A>G, XM_011521357.3:c.87A>G, XM_011521357.2:c.87A>G, XM_011521357.1:c.87A>G, XM_017022002.2:c.87A>G, XM_017022002.1:c.87A>G, XM_017022004.2:c.54A>G, XM_017022004.1:c.54A>G

Select item 14721147326.

rs1472114732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:100484603 (GRCh38)
15:101024808 (GRCh37)
Canonical SPDI:: NC_000015.10:100484602:C:T
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.100484603C>T, NC_000015.9:g.101024808C>T, NG_042826.1:g.65118G>A, NM_178842.5:c.354G>A, NM_178842.4:c.354G>A, NM_178842.3:c.354G>A, NM_001290341.2:c.387G>A, NM_001290341.1:c.387G>A, NM_001290342.2:c.354G>A, NM_001290342.1:c.354G>A, NM_001290343.2:c.354G>A, NM_001290343.1:c.354G>A, NM_001378789.1:c.354G>A, XM_011521355.3:c.387G>A, XM_011521355.2:c.387G>A, XM_011521355.1:c.387G>A, XM_011521357.3:c.387G>A, XM_011521357.2:c.387G>A, XM_011521357.1:c.387G>A, XM_017022002.2:c.387G>A, XM_017022002.1:c.387G>A, XM_017022004.2:c.354G>A, XM_017022004.1:c.354G>A

Select item 14700192297.

rs1470019229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:100501823 (GRCh38)
15:101042028 (GRCh37)
Canonical SPDI:: NC_000015.10:100501822:G:A
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.100501823G>A, NC_000015.9:g.101042028G>A, NG_042826.1:g.47898C>T, NM_178842.5:c.27C>T, NM_178842.4:c.27C>T, NM_178842.3:c.27C>T, NM_001290341.2:c.60C>T, NM_001290341.1:c.60C>T, NM_001290342.2:c.27C>T, NM_001290342.1:c.27C>T, NM_001290343.2:c.27C>T, NM_001290343.1:c.27C>T, NM_001378789.1:c.27C>T, XM_011521355.3:c.60C>T, XM_011521355.2:c.60C>T, XM_011521355.1:c.60C>T, XM_011521357.3:c.60C>T, XM_011521357.2:c.60C>T, XM_011521357.1:c.60C>T, XM_017022002.2:c.60C>T, XM_017022002.1:c.60C>T, XM_017022004.2:c.27C>T, XM_017022004.1:c.27C>T

Select item 14683534738.

rs1468353473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:100472965 (GRCh38)
15:101013170 (GRCh37)
Canonical SPDI:: NC_000015.10:100472964:G:A
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.100472965G>A, NC_000015.9:g.101013170G>A, NG_042826.1:g.76756C>T, NM_178842.5:c.697C>T, NM_178842.4:c.697C>T, NM_178842.3:c.697C>T, NM_001290341.2:c.730C>T, NM_001290341.1:c.730C>T, NM_001290342.2:c.697C>T, NM_001290342.1:c.697C>T, NM_001290343.2:c.697C>T, NM_001290343.1:c.697C>T, NM_001378789.1:c.697C>T, XM_011521355.3:c.730C>T, XM_011521355.2:c.730C>T, XM_011521355.1:c.730C>T, XM_011521357.3:c.730C>T, XM_011521357.2:c.730C>T, XM_011521357.1:c.730C>T, XM_017022002.2:c.730C>T, XM_017022002.1:c.730C>T, XM_017022004.2:c.697C>T, XM_017022004.1:c.697C>T, NP_849164.2:p.Leu233Phe, NP_001277270.1:p.Leu244Phe, NP_001277271.1:p.Leu233Phe, NP_001277272.1:p.Leu233Phe, NP_001365718.1:p.Leu233Phe, XP_011519657.1:p.Leu244Phe, XP_011519659.1:p.Leu244Phe, XP_016877491.1:p.Leu244Phe, XP_016877493.1:p.Leu233Phe

Select item 14668117339.

rs1466811733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:100479998 (GRCh38)
15:101020203 (GRCh37)
Canonical SPDI:: NC_000015.10:100479997:A:C
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.100479998A>C, NC_000015.9:g.101020203A>C, NG_042826.1:g.69723T>G, NM_178842.5:c.456T>G, NM_178842.4:c.456T>G, NM_178842.3:c.456T>G, NM_001290341.2:c.489T>G, NM_001290341.1:c.489T>G, NM_001290342.2:c.456T>G, NM_001290342.1:c.456T>G, NM_001290343.2:c.456T>G, NM_001290343.1:c.456T>G, NM_001378789.1:c.456T>G, XM_011521355.3:c.489T>G, XM_011521355.2:c.489T>G, XM_011521355.1:c.489T>G, XM_011521357.3:c.489T>G, XM_011521357.2:c.489T>G, XM_011521357.1:c.489T>G, XM_017022002.2:c.489T>G, XM_017022002.1:c.489T>G, XM_017022004.2:c.456T>G, XM_017022004.1:c.456T>G, NP_849164.2:p.Phe152Leu, NP_001277270.1:p.Phe163Leu, NP_001277271.1:p.Phe152Leu, NP_001277272.1:p.Phe152Leu, NP_001365718.1:p.Phe152Leu, XP_011519657.1:p.Phe163Leu, XP_011519659.1:p.Phe163Leu, XP_016877491.1:p.Phe163Leu, XP_016877493.1:p.Phe152Leu

Select item 146570802710.

rs1465708027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:100402731 (GRCh38)
15:100942936 (GRCh37)
Canonical SPDI:: NC_000015.10:100402730:A:G
Gene:: CERS3 (Varview), CERS3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.100402731A>G, NC_000015.9:g.100942936A>G, NG_042826.1:g.146990T>C, NM_178842.5:c.1134T>C, NM_178842.4:c.1134T>C, NM_178842.3:c.1134T>C, NM_001290341.2:c.1167T>C, NM_001290341.1:c.1167T>C, NM_001290342.2:c.1134T>C, NM_001290342.1:c.1134T>C, NM_001290343.2:c.1134T>C, NM_001290343.1:c.1134T>C, NM_001378789.1:c.1134T>C, XM_011521355.3:c.1167T>C, XM_011521355.2:c.1167T>C, XM_011521355.1:c.1167T>C, XM_011521357.3:c.1167T>C, XM_011521357.2:c.1167T>C, XM_011521357.1:c.1167T>C, XM_017022002.2:c.1167T>C, XM_017022002.1:c.1167T>C, XM_017022004.2:c.1134T>C, XM_017022004.1:c.1134T>C

Select item 146194336611.

rs1461943366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:100455947 (GRCh38)
15:100996152 (GRCh37)
Canonical SPDI:: NC_000015.10:100455946:G:T
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.100455947G>T, NC_000015.9:g.100996152G>T, NG_042826.1:g.93774C>A, NM_178842.5:c.945C>A, NM_178842.4:c.945C>A, NM_178842.3:c.945C>A, NM_001290341.2:c.978C>A, NM_001290341.1:c.978C>A, NM_001290342.2:c.945C>A, NM_001290342.1:c.945C>A, NM_001290343.2:c.945C>A, NM_001290343.1:c.945C>A, NM_001378789.1:c.945C>A, XM_011521355.3:c.978C>A, XM_011521355.2:c.978C>A, XM_011521355.1:c.978C>A, XM_011521357.3:c.978C>A, XM_011521357.2:c.978C>A, XM_011521357.1:c.978C>A, XM_017022002.2:c.978C>A, XM_017022002.1:c.978C>A, XM_017022004.2:c.945C>A, XM_017022004.1:c.945C>A, NP_849164.2:p.His315Gln, NP_001277270.1:p.His326Gln, NP_001277271.1:p.His315Gln, NP_001277272.1:p.His315Gln, NP_001365718.1:p.His315Gln, XP_011519657.1:p.His326Gln, XP_011519659.1:p.His326Gln, XP_016877491.1:p.His326Gln, XP_016877493.1:p.His315Gln

Select item 146060505412.

rs1460605054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:100484611 (GRCh38)
15:101024816 (GRCh37)
Canonical SPDI:: NC_000015.10:100484610:A:G
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.100484611A>G, NC_000015.9:g.101024816A>G, NG_042826.1:g.65110T>C, NM_178842.5:c.346T>C, NM_178842.4:c.346T>C, NM_178842.3:c.346T>C, NM_001290341.2:c.379T>C, NM_001290341.1:c.379T>C, NM_001290342.2:c.346T>C, NM_001290342.1:c.346T>C, NM_001290343.2:c.346T>C, NM_001290343.1:c.346T>C, NM_001378789.1:c.346T>C, XM_011521355.3:c.379T>C, XM_011521355.2:c.379T>C, XM_011521355.1:c.379T>C, XM_011521357.3:c.379T>C, XM_011521357.2:c.379T>C, XM_011521357.1:c.379T>C, XM_017022002.2:c.379T>C, XM_017022002.1:c.379T>C, XM_017022004.2:c.346T>C, XM_017022004.1:c.346T>C, NP_849164.2:p.Trp116Arg, NP_001277270.1:p.Trp127Arg, NP_001277271.1:p.Trp116Arg, NP_001277272.1:p.Trp116Arg, NP_001365718.1:p.Trp116Arg, XP_011519657.1:p.Trp127Arg, XP_011519659.1:p.Trp127Arg, XP_016877491.1:p.Trp127Arg, XP_016877493.1:p.Trp116Arg

Select item 145782501713.

rs1457825017 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 15:100402775 (GRCh38)
15:100942980 (GRCh37)
Canonical SPDI:: NC_000015.10:100402774:A:C,NC_000015.10:100402774:A:G,NC_000015.10:100402774:A:T
Gene:: CERS3 (Varview), CERS3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.100402775A>C, NC_000015.10:g.100402775A>G, NC_000015.10:g.100402775A>T, NC_000015.9:g.100942980A>C, NC_000015.9:g.100942980A>G, NC_000015.9:g.100942980A>T, NG_042826.1:g.146946T>G, NG_042826.1:g.146946T>C, NG_042826.1:g.146946T>A, NM_178842.5:c.1090T>G, NM_178842.5:c.1090T>C, NM_178842.5:c.1090T>A, NM_178842.4:c.1090T>G, NM_178842.4:c.1090T>C, NM_178842.4:c.1090T>A, NM_178842.3:c.1090T>G, NM_178842.3:c.1090T>C, NM_178842.3:c.1090T>A, NM_001290341.2:c.1123T>G, NM_001290341.2:c.1123T>C, NM_001290341.2:c.1123T>A, NM_001290341.1:c.1123T>G, NM_001290341.1:c.1123T>C, NM_001290341.1:c.1123T>A, NM_001290342.2:c.1090T>G, NM_001290342.2:c.1090T>C, NM_001290342.2:c.1090T>A, NM_001290342.1:c.1090T>G, NM_001290342.1:c.1090T>C, NM_001290342.1:c.1090T>A, NM_001290343.2:c.1090T>G, NM_001290343.2:c.1090T>C, NM_001290343.2:c.1090T>A, NM_001290343.1:c.1090T>G, NM_001290343.1:c.1090T>C, NM_001290343.1:c.1090T>A, NM_001378789.1:c.1090T>G, NM_001378789.1:c.1090T>C, NM_001378789.1:c.1090T>A, XM_011521355.3:c.1123T>G, XM_011521355.3:c.1123T>C, XM_011521355.3:c.1123T>A, XM_011521355.2:c.1123T>G, XM_011521355.2:c.1123T>C, XM_011521355.2:c.1123T>A, XM_011521355.1:c.1123T>G, XM_011521355.1:c.1123T>C, XM_011521355.1:c.1123T>A, XM_011521357.3:c.1123T>G, XM_011521357.3:c.1123T>C, XM_011521357.3:c.1123T>A, XM_011521357.2:c.1123T>G, XM_011521357.2:c.1123T>C, XM_011521357.2:c.1123T>A, XM_011521357.1:c.1123T>G, XM_011521357.1:c.1123T>C, XM_011521357.1:c.1123T>A, XM_017022002.2:c.1123T>G, XM_017022002.2:c.1123T>C, XM_017022002.2:c.1123T>A, XM_017022002.1:c.1123T>G, XM_017022002.1:c.1123T>C, XM_017022002.1:c.1123T>A, XM_017022004.2:c.1090T>G, XM_017022004.2:c.1090T>C, XM_017022004.2:c.1090T>A, XM_017022004.1:c.1090T>G, XM_017022004.1:c.1090T>C, XM_017022004.1:c.1090T>A, NP_849164.2:p.Cys364Gly, NP_849164.2:p.Cys364Arg, NP_849164.2:p.Cys364Ser, NP_001277270.1:p.Cys375Gly, NP_001277270.1:p.Cys375Arg, NP_001277270.1:p.Cys375Ser, NP_001277271.1:p.Cys364Gly, NP_001277271.1:p.Cys364Arg, NP_001277271.1:p.Cys364Ser, NP_001277272.1:p.Cys364Gly, NP_001277272.1:p.Cys364Arg, NP_001277272.1:p.Cys364Ser, NP_001365718.1:p.Cys364Gly, NP_001365718.1:p.Cys364Arg, NP_001365718.1:p.Cys364Ser, XP_011519657.1:p.Cys375Gly, XP_011519657.1:p.Cys375Arg, XP_011519657.1:p.Cys375Ser, XP_011519659.1:p.Cys375Gly, XP_011519659.1:p.Cys375Arg, XP_011519659.1:p.Cys375Ser, XP_016877491.1:p.Cys375Gly, XP_016877491.1:p.Cys375Arg, XP_016877491.1:p.Cys375Ser, XP_016877493.1:p.Cys364Gly, XP_016877493.1:p.Cys364Arg, XP_016877493.1:p.Cys364Ser

Select item 145374882414.

rs1453748824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:100490853 (GRCh38)
15:101031058 (GRCh37)
Canonical SPDI:: NC_000015.10:100490852:C:A,NC_000015.10:100490852:C:G
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000015.10:g.100490853C>A, NC_000015.10:g.100490853C>G, NC_000015.9:g.101031058C>A, NC_000015.9:g.101031058C>G, NG_042826.1:g.58868G>T, NG_042826.1:g.58868G>C, NM_178842.5:c.252G>T, NM_178842.5:c.252G>C, NM_178842.4:c.252G>T, NM_178842.4:c.252G>C, NM_178842.3:c.252G>T, NM_178842.3:c.252G>C, NM_001290341.2:c.285G>T, NM_001290341.2:c.285G>C, NM_001290341.1:c.285G>T, NM_001290341.1:c.285G>C, NM_001290342.2:c.252G>T, NM_001290342.2:c.252G>C, NM_001290342.1:c.252G>T, NM_001290342.1:c.252G>C, NM_001290343.2:c.252G>T, NM_001290343.2:c.252G>C, NM_001290343.1:c.252G>T, NM_001290343.1:c.252G>C, NM_001378789.1:c.252G>T, NM_001378789.1:c.252G>C, XM_011521355.3:c.285G>T, XM_011521355.3:c.285G>C, XM_011521355.2:c.285G>T, XM_011521355.2:c.285G>C, XM_011521355.1:c.285G>T, XM_011521355.1:c.285G>C, XM_011521357.3:c.285G>T, XM_011521357.3:c.285G>C, XM_011521357.2:c.285G>T, XM_011521357.2:c.285G>C, XM_011521357.1:c.285G>T, XM_011521357.1:c.285G>C, XM_017022002.2:c.285G>T, XM_017022002.2:c.285G>C, XM_017022002.1:c.285G>T, XM_017022002.1:c.285G>C, XM_017022004.2:c.252G>T, XM_017022004.2:c.252G>C, XM_017022004.1:c.252G>T, XM_017022004.1:c.252G>C, NP_849164.2:p.Glu84Asp, NP_849164.2:p.Glu84Asp, NP_001277270.1:p.Glu95Asp, NP_001277270.1:p.Glu95Asp, NP_001277271.1:p.Glu84Asp, NP_001277271.1:p.Glu84Asp, NP_001277272.1:p.Glu84Asp, NP_001277272.1:p.Glu84Asp, NP_001365718.1:p.Glu84Asp, NP_001365718.1:p.Glu84Asp, XP_011519657.1:p.Glu95Asp, XP_011519657.1:p.Glu95Asp, XP_011519659.1:p.Glu95Asp, XP_011519659.1:p.Glu95Asp, XP_016877491.1:p.Glu95Asp, XP_016877491.1:p.Glu95Asp, XP_016877493.1:p.Glu84Asp, XP_016877493.1:p.Glu84Asp

Select item 145145388015.

rs1451453880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:100473032 (GRCh38)
15:101013237 (GRCh37)
Canonical SPDI:: NC_000015.10:100473031:G:A
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.100473032G>A, NC_000015.9:g.101013237G>A, NG_042826.1:g.76689C>T, NM_178842.5:c.630C>T, NM_178842.4:c.630C>T, NM_178842.3:c.630C>T, NM_001290341.2:c.663C>T, NM_001290341.1:c.663C>T, NM_001290342.2:c.630C>T, NM_001290342.1:c.630C>T, NM_001290343.2:c.630C>T, NM_001290343.1:c.630C>T, NM_001378789.1:c.630C>T, XM_011521355.3:c.663C>T, XM_011521355.2:c.663C>T, XM_011521355.1:c.663C>T, XM_011521357.3:c.663C>T, XM_011521357.2:c.663C>T, XM_011521357.1:c.663C>T, XM_017022002.2:c.663C>T, XM_017022002.1:c.663C>T, XM_017022004.2:c.630C>T, XM_017022004.1:c.630C>T

Select item 144625862816.

rs1446258628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:100501810 (GRCh38)
15:101042015 (GRCh37)
Canonical SPDI:: NC_000015.10:100501809:A:G
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.100501810A>G, NC_000015.9:g.101042015A>G, NG_042826.1:g.47911T>C, NM_178842.5:c.40T>C, NM_178842.4:c.40T>C, NM_178842.3:c.40T>C, NM_001290341.2:c.73T>C, NM_001290341.1:c.73T>C, NM_001290342.2:c.40T>C, NM_001290342.1:c.40T>C, NM_001290343.2:c.40T>C, NM_001290343.1:c.40T>C, NM_001378789.1:c.40T>C, XM_011521355.3:c.73T>C, XM_011521355.2:c.73T>C, XM_011521355.1:c.73T>C, XM_011521357.3:c.73T>C, XM_011521357.2:c.73T>C, XM_011521357.1:c.73T>C, XM_017022002.2:c.73T>C, XM_017022002.1:c.73T>C, XM_017022004.2:c.40T>C, XM_017022004.1:c.40T>C, NP_849164.2:p.Phe14Leu, NP_001277270.1:p.Phe25Leu, NP_001277271.1:p.Phe14Leu, NP_001277272.1:p.Phe14Leu, NP_001365718.1:p.Phe14Leu, XP_011519657.1:p.Phe25Leu, XP_011519659.1:p.Phe25Leu, XP_016877491.1:p.Phe25Leu, XP_016877493.1:p.Phe14Leu

Select item 144595799917.

rs1445957999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:100490893 (GRCh38)
15:101031098 (GRCh37)
Canonical SPDI:: NC_000015.10:100490892:T:G
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.100490893T>G, NC_000015.9:g.101031098T>G, NG_042826.1:g.58828A>C, NM_178842.5:c.212A>C, NM_178842.4:c.212A>C, NM_178842.3:c.212A>C, NM_001290341.2:c.245A>C, NM_001290341.1:c.245A>C, NM_001290342.2:c.212A>C, NM_001290342.1:c.212A>C, NM_001290343.2:c.212A>C, NM_001290343.1:c.212A>C, NM_001378789.1:c.212A>C, XM_011521355.3:c.245A>C, XM_011521355.2:c.245A>C, XM_011521355.1:c.245A>C, XM_011521357.3:c.245A>C, XM_011521357.2:c.245A>C, XM_011521357.1:c.245A>C, XM_017022002.2:c.245A>C, XM_017022002.1:c.245A>C, XM_017022004.2:c.212A>C, XM_017022004.1:c.212A>C, NP_849164.2:p.Lys71Thr, NP_001277270.1:p.Lys82Thr, NP_001277271.1:p.Lys71Thr, NP_001277272.1:p.Lys71Thr, NP_001365718.1:p.Lys71Thr, XP_011519657.1:p.Lys82Thr, XP_011519659.1:p.Lys82Thr, XP_016877491.1:p.Lys82Thr, XP_016877493.1:p.Lys71Thr

Select item 144298815118.

rs1442988151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:100501707 (GRCh38)
15:101041912 (GRCh37)
Canonical SPDI:: NC_000015.10:100501706:A:G
Gene:: CERS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.100501707A>G, NC_000015.9:g.101041912A>G, NG_042826.1:g.48014T>C, NM_178842.5:c.143T>C, NM_178842.4:c.143T>C, NM_178842.3:c.143T>C, NM_001290341.2:c.176T>C, NM_001290341.1:c.176T>C, NM_001290342.2:c.143T>C, NM_001290342.1:c.143T>C, NM_001290343.2:c.143T>C, NM_001290343.1:c.143T>C, NM_001378789.1:c.143T>C, XM_011521355.3:c.176T>C, XM_011521355.2:c.176T>C, XM_011521355.1:c.176T>C, XM_011521357.3:c.176T>C, XM_011521357.2:c.176T>C, XM_011521357.1:c.176T>C, XM_017022002.2:c.176T>C, XM_017022002.1:c.176T>C, XM_017022004.2:c.143T>C, XM_017022004.1:c.143T>C, NP_849164.2:p.Leu48Pro, NP_001277270.1:p.Leu59Pro, NP_001277271.1:p.Leu48Pro, NP_001277272.1:p.Leu48Pro, NP_001365718.1:p.Leu48Pro, XP_011519657.1:p.Leu59Pro, XP_011519659.1:p.Leu59Pro, XP_016877491.1:p.Leu59Pro, XP_016877493.1:p.Leu48Pro

Select item 143597749019.

rs1435977490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:100501751 (GRCh38)
15:101041956 (GRCh37)
Canonical SPDI:: NC_000015.10:100501750:A:G
Gene:: CERS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.100501751A>G, NC_000015.9:g.101041956A>G, NG_042826.1:g.47970T>C, NM_178842.5:c.99T>C, NM_178842.4:c.99T>C, NM_178842.3:c.99T>C, NM_001290341.2:c.132T>C, NM_001290341.1:c.132T>C, NM_001290342.2:c.99T>C, NM_001290342.1:c.99T>C, NM_001290343.2:c.99T>C, NM_001290343.1:c.99T>C, NM_001378789.1:c.99T>C, XM_011521355.3:c.132T>C, XM_011521355.2:c.132T>C, XM_011521355.1:c.132T>C, XM_011521357.3:c.132T>C, XM_011521357.2:c.132T>C, XM_011521357.1:c.132T>C, XM_017022002.2:c.132T>C, XM_017022002.1:c.132T>C, XM_017022004.2:c.99T>C, XM_017022004.1:c.99T>C

Select item 143596419020.

rs1435964190 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:100402795 (GRCh38)
15:100943001 (GRCh37)
Canonical SPDI:: NC_000015.10:100402795:T:TT
Gene:: CERS3 (Varview), CERS3-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.00001/1 (ALFA)
HGVS:: NC_000015.10:g.100402796dup, NC_000015.9:g.100943001dup, NG_042826.1:g.146925dup, NM_178842.5:c.1069dup, NM_178842.4:c.1069dup, NM_178842.3:c.1069dup, NM_001290341.2:c.1102dup, NM_001290341.1:c.1102dup, NM_001290342.2:c.1069dup, NM_001290342.1:c.1069dup, NM_001290343.2:c.1069dup, NM_001290343.1:c.1069dup, NM_001378789.1:c.1069dup, XM_011521355.3:c.1102dup, XM_011521355.2:c.1102dup, XM_011521355.1:c.1102dup, XM_011521357.3:c.1102dup, XM_011521357.2:c.1102dup, XM_011521357.1:c.1102dup, XM_017022002.2:c.1102dup, XM_017022002.1:c.1102dup, XM_017022004.2:c.1069dup, XM_017022004.1:c.1069dup, NP_849164.2:p.Thr357fs, NP_001277270.1:p.Thr368fs, NP_001277271.1:p.Thr357fs, NP_001277272.1:p.Thr357fs, NP_001365718.1:p.Thr357fs, XP_011519657.1:p.Thr368fs, XP_011519659.1:p.Thr368fs, XP_016877491.1:p.Thr368fs, XP_016877493.1:p.Thr357fs

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dbSNP

Result Filters

Clinical Significance

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Publication

Function Class

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Annotation

Global MAF

Custom range

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Items: 1 to 20 of 384

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