SNP Links for Protein (Select 545479116) - SNP

Select item 14906690681.

rs1490669068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23959994 (GRCh38)
14:24429203 (GRCh37)
Canonical SPDI:: NC_000014.9:23959993:G:A
Gene:: DHRS4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23959994G>A, NC_000014.8:g.24429203G>A, NW_018654722.1:g.260973G>A, NM_021004.4:c.399G>A, NM_021004.3:c.399G>A, NM_021004.2:c.399G>A, XM_011536366.3:c.399G>A, XM_011536366.2:c.399G>A, XM_011536366.1:c.399G>A, NM_001282987.2:c.399G>A, NM_001282987.1:c.399G>A, NM_001282989.2:c.399G>A, NM_001282989.1:c.399G>A, NM_001411004.1:c.399G>A, XM_047430883.1:c.399G>A

Select item 14837578282.

rs1483757828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23955118 (GRCh38)
14:24424327 (GRCh37)
Canonical SPDI:: NC_000014.9:23955117:A:G
Gene:: DHRS4 (Varview), DHRS4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_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_000014.9:g.23955118A>G, NC_000014.8:g.24424327A>G, NW_018654722.1:g.256097A>G, NM_021004.4:c.212A>G, NM_021004.3:c.212A>G, NM_021004.2:c.212A>G, XM_011536366.3:c.212A>G, XM_011536366.2:c.212A>G, XM_011536366.1:c.212A>G, NM_001282988.2:c.212A>G, NM_001282988.1:c.212A>G, NM_001282987.2:c.212A>G, NM_001282987.1:c.212A>G, NM_001282990.2:c.212A>G, NM_001282990.1:c.212A>G, NM_001282989.2:c.212A>G, NM_001282989.1:c.212A>G, NM_001282991.2:c.212A>G, NM_001282991.1:c.212A>G, NM_001411004.1:c.212A>G, XM_047430883.1:c.212A>G, NP_066284.2:p.Gln71Arg, XP_011534668.1:p.Gln71Arg, NP_001269917.1:p.Gln71Arg, NP_001269916.1:p.Gln71Arg, NP_001269919.1:p.Gln71Arg, NP_001269918.1:p.Gln71Arg, NP_001269920.1:p.Gln71Arg, XP_047286839.1:p.Gln71Arg

Select item 14810779693.

rs1481077969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23955141 (GRCh38)
14:24424350 (GRCh37)
Canonical SPDI:: NC_000014.9:23955140:G:A
Gene:: DHRS4 (Varview), DHRS4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23955141G>A, NC_000014.8:g.24424350G>A, NW_018654722.1:g.256120G>A, NM_021004.4:c.235G>A, NM_021004.3:c.235G>A, NM_021004.2:c.235G>A, XM_011536366.3:c.235G>A, XM_011536366.2:c.235G>A, XM_011536366.1:c.235G>A, NM_001282988.2:c.235G>A, NM_001282988.1:c.235G>A, NM_001282987.2:c.235G>A, NM_001282987.1:c.235G>A, NM_001282990.2:c.235G>A, NM_001282990.1:c.235G>A, NM_001282989.2:c.235G>A, NM_001282989.1:c.235G>A, NM_001282991.2:c.235G>A, NM_001282991.1:c.235G>A, NM_001411004.1:c.235G>A, XM_047430883.1:c.235G>A, NP_066284.2:p.Glu79Lys, XP_011534668.1:p.Glu79Lys, NP_001269917.1:p.Glu79Lys, NP_001269916.1:p.Glu79Lys, NP_001269919.1:p.Glu79Lys, NP_001269918.1:p.Glu79Lys, NP_001269920.1:p.Glu79Lys, XP_047286839.1:p.Glu79Lys

Select item 14801281564.

rs1480128156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23959998 (GRCh38)
14:24429207 (GRCh37)
Canonical SPDI:: NC_000014.9:23959997:G:A
Gene:: DHRS4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23959998G>A, NC_000014.8:g.24429207G>A, NW_018654722.1:g.260977G>A, NM_021004.4:c.403G>A, NM_021004.3:c.403G>A, NM_021004.2:c.403G>A, NM_001282989.2:c.403G>A, NM_001282989.1:c.403G>A, XM_011536366.3:c.403G>A, XM_011536366.2:c.403G>A, XM_011536366.1:c.403G>A, NM_001282987.2:c.403G>A, NM_001282987.1:c.403G>A, NM_001411004.1:c.403G>A, XM_047430883.1:c.403G>A, NP_066284.2:p.Asp135Asn, NP_001269918.1:p.Asp135Asn, XP_011534668.1:p.Asp135Asn, NP_001269916.1:p.Asp135Asn, XP_047286839.1:p.Asp135Asn

Select item 14795079125.

rs1479507912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:23955123 (GRCh38)
14:24424332 (GRCh37)
Canonical SPDI:: NC_000014.9:23955122:G:T
Gene:: DHRS4 (Varview), DHRS4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23955123G>T, NC_000014.8:g.24424332G>T, NW_018654722.1:g.256102G>T, NM_021004.4:c.217G>T, NM_021004.3:c.217G>T, NM_021004.2:c.217G>T, NM_001282990.2:c.217G>T, NM_001282990.1:c.217G>T, NM_001282989.2:c.217G>T, NM_001282989.1:c.217G>T, NM_001282991.2:c.217G>T, NM_001282991.1:c.217G>T, XM_011536366.3:c.217G>T, XM_011536366.2:c.217G>T, XM_011536366.1:c.217G>T, NM_001282988.2:c.217G>T, NM_001282988.1:c.217G>T, NM_001282987.2:c.217G>T, NM_001282987.1:c.217G>T, NM_001411004.1:c.217G>T, XM_047430883.1:c.217G>T, NP_066284.2:p.Val73Leu, NP_001269919.1:p.Val73Leu, NP_001269918.1:p.Val73Leu, NP_001269920.1:p.Val73Leu, XP_011534668.1:p.Val73Leu, NP_001269917.1:p.Val73Leu, NP_001269916.1:p.Val73Leu, XP_047286839.1:p.Val73Leu

Select item 14778414876.

rs1477841487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23955178 (GRCh38)
14:24424387 (GRCh37)
Canonical SPDI:: NC_000014.9:23955177:G:A
Gene:: DHRS4 (Varview), DHRS4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23955178G>A, NC_000014.8:g.24424387G>A, NW_018654722.1:g.256157G>A, NM_021004.4:c.272G>A, NM_021004.3:c.272G>A, NM_021004.2:c.272G>A, NM_001282990.2:c.272G>A, NM_001282990.1:c.272G>A, NM_001282989.2:c.272G>A, NM_001282989.1:c.272G>A, NM_001282991.2:c.272G>A, NM_001282991.1:c.272G>A, XM_011536366.3:c.272G>A, XM_011536366.2:c.272G>A, XM_011536366.1:c.272G>A, NM_001282988.2:c.272G>A, NM_001282988.1:c.272G>A, NM_001282987.2:c.272G>A, NM_001282987.1:c.272G>A, NM_001411004.1:c.272G>A, XM_047430883.1:c.272G>A, NP_066284.2:p.Gly91Glu, NP_001269919.1:p.Gly91Glu, NP_001269918.1:p.Gly91Glu, NP_001269920.1:p.Gly91Glu, XP_011534668.1:p.Gly91Glu, NP_001269917.1:p.Gly91Glu, NP_001269916.1:p.Gly91Glu, XP_047286839.1:p.Gly91Glu

Select item 14617437597.

rs1461743759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23955148 (GRCh38)
14:24424357 (GRCh37)
Canonical SPDI:: NC_000014.9:23955147:T:C
Gene:: DHRS4 (Varview), DHRS4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23955148T>C, NC_000014.8:g.24424357T>C, NW_018654722.1:g.256127T>C, NM_021004.4:c.242T>C, NM_021004.3:c.242T>C, NM_021004.2:c.242T>C, NM_001282990.2:c.242T>C, NM_001282990.1:c.242T>C, NM_001282989.2:c.242T>C, NM_001282989.1:c.242T>C, NM_001282991.2:c.242T>C, NM_001282991.1:c.242T>C, XM_011536366.3:c.242T>C, XM_011536366.2:c.242T>C, XM_011536366.1:c.242T>C, NM_001282988.2:c.242T>C, NM_001282988.1:c.242T>C, NM_001282987.2:c.242T>C, NM_001282987.1:c.242T>C, NM_001411004.1:c.242T>C, XM_047430883.1:c.242T>C, NP_066284.2:p.Leu81Pro, NP_001269919.1:p.Leu81Pro, NP_001269918.1:p.Leu81Pro, NP_001269920.1:p.Leu81Pro, XP_011534668.1:p.Leu81Pro, NP_001269917.1:p.Leu81Pro, NP_001269916.1:p.Leu81Pro, XP_047286839.1:p.Leu81Pro

Select item 14524324138.

rs1452432413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:23968836 (GRCh38)
14:24438045 (GRCh37)
Canonical SPDI:: NC_000014.9:23968835:G:C,NC_000014.9:23968835:G:T
Gene:: DHRS4 (Varview), DHRS4L2 (Varview), LOC124903290 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23968836G>C, NC_000014.9:g.23968836G>T, NC_000014.8:g.24438045G>C, NC_000014.8:g.24438045G>T, NG_023545.1:g.3963G>C, NG_023545.1:g.3963G>T, NW_018654722.1:g.269817G>C, NW_018654722.1:g.269817G>T, NM_021004.4:c.802G>C, NM_021004.4:c.802G>T, NM_021004.3:c.802G>C, NM_021004.3:c.802G>T, NM_021004.2:c.802G>C, NM_021004.2:c.802G>T, NM_001282988.2:c.700G>C, NM_001282988.2:c.700G>T, NM_001282988.1:c.700G>C, NM_001282988.1:c.700G>T, NM_001282987.2:c.*29G>C, NM_001282987.2:c.*29G>T, NM_001282987.1:c.*29G>C, NM_001282987.1:c.*29G>T, NM_001282990.2:c.565G>C, NM_001282990.2:c.565G>T, NM_001282990.1:c.565G>C, NM_001282990.1:c.565G>T, NM_001282989.2:c.544G>C, NM_001282989.2:c.544G>T, NM_001282989.1:c.544G>C, NM_001282989.1:c.544G>T, NM_001282991.2:c.442G>C, NM_001282991.2:c.442G>T, NM_001282991.1:c.442G>C, NM_001282991.1:c.442G>T, NP_066284.2:p.Val268Leu, NP_066284.2:p.Val268Leu, NP_001269917.1:p.Val234Leu, NP_001269917.1:p.Val234Leu, NP_001269919.1:p.Val189Leu, NP_001269919.1:p.Val189Leu, NP_001269918.1:p.Val182Leu, NP_001269918.1:p.Val182Leu, NP_001269920.1:p.Val148Leu, NP_001269920.1:p.Val148Leu

Select item 14398678039.

rs1439867803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:23959926 (GRCh38)
14:24429135 (GRCh37)
Canonical SPDI:: NC_000014.9:23959925:G:A,NC_000014.9:23959925:G:C
Gene:: DHRS4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000014.9:g.23959926G>A, NC_000014.9:g.23959926G>C, NC_000014.8:g.24429135G>A, NC_000014.8:g.24429135G>C, NW_018654722.1:g.260905G>A, NW_018654722.1:g.260905G>C, NM_021004.4:c.331G>A, NM_021004.4:c.331G>C, NM_021004.3:c.331G>A, NM_021004.3:c.331G>C, NM_021004.2:c.331G>A, NM_021004.2:c.331G>C, NM_001282989.2:c.331G>A, NM_001282989.2:c.331G>C, NM_001282989.1:c.331G>A, NM_001282989.1:c.331G>C, XM_011536366.3:c.331G>A, XM_011536366.3:c.331G>C, XM_011536366.2:c.331G>A, XM_011536366.2:c.331G>C, XM_011536366.1:c.331G>A, XM_011536366.1:c.331G>C, NM_001282987.2:c.331G>A, NM_001282987.2:c.331G>C, NM_001282987.1:c.331G>A, NM_001282987.1:c.331G>C, NM_001411004.1:c.331G>A, NM_001411004.1:c.331G>C, XM_047430883.1:c.331G>A, XM_047430883.1:c.331G>C, NP_066284.2:p.Asp111Asn, NP_066284.2:p.Asp111His, NP_001269918.1:p.Asp111Asn, NP_001269918.1:p.Asp111His, XP_011534668.1:p.Asp111Asn, XP_011534668.1:p.Asp111His, NP_001269916.1:p.Asp111Asn, NP_001269916.1:p.Asp111His, XP_047286839.1:p.Asp111Asn, XP_047286839.1:p.Asp111His

Select item 143211303010.

rs1432113030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23967224 (GRCh38)
14:24436433 (GRCh37)
Canonical SPDI:: NC_000014.9:23967223:A:G
Gene:: DHRS4 (Varview), LOC124903290 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.23967224A>G, NC_000014.8:g.24436433A>G, NG_023545.1:g.2351A>G, NW_018654722.1:g.268202A>G, NM_021004.4:c.680A>G, NM_021004.3:c.680A>G, NM_021004.2:c.680A>G, NM_001282989.2:c.422A>G, NM_001282989.1:c.422A>G, NM_001282991.2:c.320A>G, NM_001282991.1:c.320A>G, NM_001282990.2:c.443A>G, NM_001282990.1:c.443A>G, NM_001282988.2:c.578A>G, NM_001282988.1:c.578A>G, NM_001282987.2:c.474A>G, NM_001282987.1:c.474A>G, NM_001411004.1:c.422A>G, XM_047430883.1:c.422A>G, NP_066284.2:p.Lys227Arg, NP_001269918.1:p.Lys141Arg, NP_001269920.1:p.Lys107Arg, NP_001269919.1:p.Lys148Arg, NP_001269917.1:p.Lys193Arg, XP_047286839.1:p.Lys141Arg

Select item 142962420711.

rs1429624207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:23967247 (GRCh38)
14:24436456 (GRCh37)
Canonical SPDI:: NC_000014.9:23967246:G:T
Gene:: DHRS4 (Varview), LOC124903290 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000014.9:g.23967247G>T, NC_000014.8:g.24436456G>T, NG_023545.1:g.2374G>T, NW_018654722.1:g.268225G>T, NM_021004.4:c.703G>T, NM_021004.3:c.703G>T, NM_021004.2:c.703G>T, NM_001282989.2:c.445G>T, NM_001282989.1:c.445G>T, NM_001282991.2:c.343G>T, NM_001282991.1:c.343G>T, NM_001282990.2:c.466G>T, NM_001282990.1:c.466G>T, NM_001282988.2:c.601G>T, NM_001282988.1:c.601G>T, NM_001282987.2:c.497G>T, NM_001282987.1:c.497G>T, NM_001411004.1:c.445G>T, XM_047430883.1:c.445G>T, NP_066284.2:p.Glu235Ter, NP_001269918.1:p.Glu149Ter, NP_001269920.1:p.Glu115Ter, NP_001269919.1:p.Glu156Ter, NP_001269917.1:p.Glu201Ter, NP_001269916.1:p.Arg166Ile, XP_047286839.1:p.Glu149Ter

Select item 142798071712.

rs1427980717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:23955136 (GRCh38)
14:24424345 (GRCh37)
Canonical SPDI:: NC_000014.9:23955135:A:C
Gene:: DHRS4 (Varview), DHRS4-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23955136A>C, NC_000014.8:g.24424345A>C, NW_018654722.1:g.256115A>C, NM_021004.4:c.230A>C, NM_021004.3:c.230A>C, NM_021004.2:c.230A>C, XM_011536366.3:c.230A>C, XM_011536366.2:c.230A>C, XM_011536366.1:c.230A>C, NM_001282988.2:c.230A>C, NM_001282988.1:c.230A>C, NM_001282987.2:c.230A>C, NM_001282987.1:c.230A>C, NM_001282990.2:c.230A>C, NM_001282990.1:c.230A>C, NM_001282989.2:c.230A>C, NM_001282989.1:c.230A>C, NM_001282991.2:c.230A>C, NM_001282991.1:c.230A>C, NM_001411004.1:c.230A>C, XM_047430883.1:c.230A>C, NP_066284.2:p.Gln77Pro, XP_011534668.1:p.Gln77Pro, NP_001269917.1:p.Gln77Pro, NP_001269916.1:p.Gln77Pro, NP_001269919.1:p.Gln77Pro, NP_001269918.1:p.Gln77Pro, NP_001269920.1:p.Gln77Pro, XP_047286839.1:p.Gln77Pro

Select item 141742476713.

rs1417424767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:23959954 (GRCh38)
14:24429163 (GRCh37)
Canonical SPDI:: NC_000014.9:23959953:A:G,NC_000014.9:23959953:A:T
Gene:: DHRS4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23959954A>G, NC_000014.9:g.23959954A>T, NC_000014.8:g.24429163A>G, NC_000014.8:g.24429163A>T, NW_018654722.1:g.260933A>G, NW_018654722.1:g.260933A>T, NM_021004.4:c.359A>G, NM_021004.4:c.359A>T, NM_021004.3:c.359A>G, NM_021004.3:c.359A>T, NM_021004.2:c.359A>G, NM_021004.2:c.359A>T, NM_001282989.2:c.359A>G, NM_001282989.2:c.359A>T, NM_001282989.1:c.359A>G, NM_001282989.1:c.359A>T, XM_011536366.3:c.359A>G, XM_011536366.3:c.359A>T, XM_011536366.2:c.359A>G, XM_011536366.2:c.359A>T, XM_011536366.1:c.359A>G, XM_011536366.1:c.359A>T, NM_001282987.2:c.359A>G, NM_001282987.2:c.359A>T, NM_001282987.1:c.359A>G, NM_001282987.1:c.359A>T, NM_001411004.1:c.359A>G, NM_001411004.1:c.359A>T, XM_047430883.1:c.359A>G, XM_047430883.1:c.359A>T, NP_066284.2:p.Asn120Ser, NP_066284.2:p.Asn120Ile, NP_001269918.1:p.Asn120Ser, NP_001269918.1:p.Asn120Ile, XP_011534668.1:p.Asn120Ser, XP_011534668.1:p.Asn120Ile, NP_001269916.1:p.Asn120Ser, NP_001269916.1:p.Asn120Ile, XP_047286839.1:p.Asn120Ser, XP_047286839.1:p.Asn120Ile

Select item 141272028614.

rs1412720286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23968782 (GRCh38)
14:24437991 (GRCh37)
Canonical SPDI:: NC_000014.9:23968781:G:A
Gene:: DHRS4 (Varview), DHRS4L2 (Varview), LOC124903290 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23968782G>A, NC_000014.8:g.24437991G>A, NG_023545.1:g.3909G>A, NW_018654722.1:g.269763G>A, NM_021004.4:c.748G>A, NM_021004.3:c.748G>A, NM_021004.2:c.748G>A, NM_001282988.2:c.646G>A, NM_001282988.1:c.646G>A, NM_001282987.2:c.542G>A, NM_001282987.1:c.542G>A, NM_001282990.2:c.511G>A, NM_001282990.1:c.511G>A, NM_001282989.2:c.490G>A, NM_001282989.1:c.490G>A, NM_001282991.2:c.388G>A, NM_001282991.1:c.388G>A, NP_066284.2:p.Gly250Ser, NP_001269917.1:p.Gly216Ser, NP_001269916.1:p.Trp181Ter, NP_001269919.1:p.Gly171Ser, NP_001269918.1:p.Gly164Ser, NP_001269920.1:p.Gly130Ser

Select item 141157734815.

rs1411577348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:23968776 (GRCh38)
14:24437985 (GRCh37)
Canonical SPDI:: NC_000014.9:23968775:T:A
Gene:: DHRS4 (Varview), DHRS4L2 (Varview), LOC124903290 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23968776T>A, NC_000014.8:g.24437985T>A, NG_023545.1:g.3903T>A, NW_018654722.1:g.269757T>A, NM_021004.4:c.742T>A, NM_021004.3:c.742T>A, NM_021004.2:c.742T>A, NM_001282988.2:c.640T>A, NM_001282988.1:c.640T>A, NM_001282987.2:c.536T>A, NM_001282987.1:c.536T>A, NM_001282990.2:c.505T>A, NM_001282990.1:c.505T>A, NM_001282989.2:c.484T>A, NM_001282989.1:c.484T>A, NM_001282991.2:c.382T>A, NM_001282991.1:c.382T>A, NP_066284.2:p.Cys248Ser, NP_001269917.1:p.Cys214Ser, NP_001269916.1:p.Leu179Ter, NP_001269919.1:p.Cys169Ser, NP_001269918.1:p.Cys162Ser, NP_001269920.1:p.Cys128Ser

Select item 141119134716.

rs1411191347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23968796 (GRCh38)
14:24438005 (GRCh37)
Canonical SPDI:: NC_000014.9:23968795:C:T
Gene:: DHRS4 (Varview), DHRS4L2 (Varview), LOC124903290 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23968796C>T, NC_000014.8:g.24438005C>T, NG_023545.1:g.3923C>T, NW_018654722.1:g.269777C>T, NM_021004.4:c.762C>T, NM_021004.3:c.762C>T, NM_021004.2:c.762C>T, NM_001282988.2:c.660C>T, NM_001282988.1:c.660C>T, NM_001282987.2:c.556C>T, NM_001282987.1:c.556C>T, NM_001282990.2:c.525C>T, NM_001282990.1:c.525C>T, NM_001282989.2:c.504C>T, NM_001282989.1:c.504C>T, NM_001282991.2:c.402C>T, NM_001282991.1:c.402C>T, NP_001269916.1:p.Pro186Ser

Select item 140823800617.

rs1408238006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23955076 (GRCh38)
14:24424285 (GRCh37)
Canonical SPDI:: NC_000014.9:23955075:C:T
Gene:: DHRS4 (Varview), DHRS4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23955076C>T, NC_000014.8:g.24424285C>T, NW_018654722.1:g.256055C>T, NM_021004.4:c.170C>T, NM_021004.3:c.170C>T, NM_021004.2:c.170C>T, XM_011536366.3:c.170C>T, XM_011536366.2:c.170C>T, XM_011536366.1:c.170C>T, NR_023922.2:n.37G>A, NR_023922.1:n.14G>A, NM_001282988.2:c.170C>T, NM_001282988.1:c.170C>T, NM_001282987.2:c.170C>T, NM_001282987.1:c.170C>T, NM_001282990.2:c.170C>T, NM_001282990.1:c.170C>T, NM_001282989.2:c.170C>T, NM_001282989.1:c.170C>T, NM_001282991.2:c.170C>T, NM_001282991.1:c.170C>T, NM_001411004.1:c.170C>T, XM_047430883.1:c.170C>T, NP_066284.2:p.Ala57Val, XP_011534668.1:p.Ala57Val, NP_001269917.1:p.Ala57Val, NP_001269916.1:p.Ala57Val, NP_001269919.1:p.Ala57Val, NP_001269918.1:p.Ala57Val, NP_001269920.1:p.Ala57Val, XP_047286839.1:p.Ala57Val

Select item 140605991318.

rs1406059913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23968869 (GRCh38)
14:24438078 (GRCh37)
Canonical SPDI:: NC_000014.9:23968868:T:C
Gene:: DHRS4 (Varview), DHRS4L2 (Varview), LOC124903290 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.23968869T>C, NC_000014.8:g.24438078T>C, NG_023545.1:g.3996T>C, NW_018654722.1:g.269850T>C, NM_021004.4:c.835T>C, NM_021004.3:c.835T>C, NM_021004.2:c.835T>C, NM_001282988.2:c.733T>C, NM_001282988.1:c.733T>C, NM_001282987.2:c.*62T>C, NM_001282987.1:c.*62T>C, NM_001282990.2:c.598T>C, NM_001282990.1:c.598T>C, NM_001282989.2:c.577T>C, NM_001282989.1:c.577T>C, NM_001282991.2:c.475T>C, NM_001282991.1:c.475T>C, NP_066284.2:p.Ter279Arg, NP_001269917.1:p.Ter245Arg, NP_001269919.1:p.Ter200Arg, NP_001269918.1:p.Ter193Arg, NP_001269920.1:p.Ter159Arg

Select item 140547646419.

rs1405476464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23959969 (GRCh38)
14:24429178 (GRCh37)
Canonical SPDI:: NC_000014.9:23959968:G:A
Gene:: DHRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000014.9:g.23959969G>A, NC_000014.8:g.24429178G>A, NW_018654722.1:g.260948G>A, NM_021004.4:c.374G>A, NM_021004.3:c.374G>A, NM_021004.2:c.374G>A, XM_011536366.3:c.374G>A, XM_011536366.2:c.374G>A, XM_011536366.1:c.374G>A, NM_001282987.2:c.374G>A, NM_001282987.1:c.374G>A, NM_001282989.2:c.374G>A, NM_001282989.1:c.374G>A, NM_001411004.1:c.374G>A, XM_047430883.1:c.374G>A, NP_066284.2:p.Ser125Asn, XP_011534668.1:p.Ser125Asn, NP_001269916.1:p.Ser125Asn, NP_001269918.1:p.Ser125Asn, XP_047286839.1:p.Ser125Asn

Select item 140475456020.

rs1404754560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:23959991 (GRCh38)
14:24429200 (GRCh37)
Canonical SPDI:: NC_000014.9:23959990:G:C
Gene:: DHRS4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.23959991G>C, NC_000014.8:g.24429200G>C, NW_018654722.1:g.260970G>C, NM_021004.4:c.396G>C, NM_021004.3:c.396G>C, NM_021004.2:c.396G>C, XM_011536366.3:c.396G>C, XM_011536366.2:c.396G>C, XM_011536366.1:c.396G>C, NM_001282987.2:c.396G>C, NM_001282987.1:c.396G>C, NM_001282989.2:c.396G>C, NM_001282989.1:c.396G>C, NM_001411004.1:c.396G>C, XM_047430883.1:c.396G>C, NP_066284.2:p.Glu132Asp, XP_011534668.1:p.Glu132Asp, NP_001269916.1:p.Glu132Asp, NP_001269918.1:p.Glu132Asp, XP_047286839.1:p.Glu132Asp

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Items: 1 to 20 of 272

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