SNP Links for Protein (Select 21361870) - SNP

Links from Protein

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Select item 14871744431.

rs1487174443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:8917324 (GRCh38)
11:8938871 (GRCh37)
Canonical SPDI:: NC_000011.10:8917323:G:T
Gene:: AKIP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.8917324G>T, NC_000011.9:g.8938871G>T, NG_030417.1:g.11171G>T, NM_020642.4:c.446G>T, NM_020642.3:c.446G>T, NR_045417.2:n.707G>T, NR_045417.1:n.704G>T, NR_045418.2:n.626G>T, NR_045418.1:n.623G>T, NM_001206646.2:c.365G>T, NM_001206646.1:c.365G>T, NM_182901.3:c.446G>T, NM_182901.2:c.446G>T, XM_017018011.2:c.446G>T, XM_017018011.1:c.446G>T, NM_001206645.1:c.365G>T, XM_047427261.1:c.365G>T, NM_182901.1:c.446G>T, NP_065693.2:p.Gly149Val, NP_001193575.1:p.Gly122Val, XP_016873500.1:p.Gly149Val, XP_047283217.1:p.Gly122Val

Select item 14868989662.

rs1486898966 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:8917346 (GRCh38)
11:8938894 (GRCh37)
Canonical SPDI:: NC_000011.10:8917346:G:GG
Gene:: AKIP1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8917347dup, NC_000011.9:g.8938894dup, NG_030417.1:g.11194dup, NM_020642.4:c.469dup, NM_020642.3:c.469dup, NR_045417.2:n.730dup, NR_045417.1:n.727dup, NR_045418.2:n.649dup, NR_045418.1:n.646dup, NM_001206646.2:c.388dup, NM_001206646.1:c.388dup, NM_182901.3:c.469dup, NM_182901.2:c.469dup, XM_017018011.2:c.469dup, XM_017018011.1:c.469dup, NM_001206645.1:c.388dup, XM_047427261.1:c.388dup, NM_182901.1:c.469dup, NP_065693.2:p.Ala157fs, NP_001193575.1:p.Ala130fs, XP_016873500.1:p.Ala157fs, XP_047283217.1:p.Ala130fs

Select item 14851582083.

rs1485158208 has merged into rs933044487 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 11:8911618 (GRCh38)
11:8933165 (GRCh37)
Canonical SPDI:: NC_000011.10:8911617:CCCC:CCC,NC_000011.10:8911617:CCCC:CCCCC
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8911621del, NC_000011.10:g.8911621dup, NC_000011.9:g.8933168del, NC_000011.9:g.8933168dup, NG_029450.1:g.4334del, NG_029450.1:g.4334dup, NG_030417.1:g.5468del, NG_030417.1:g.5468dup, NM_020642.4:c.172del, NM_020642.4:c.172dup, NM_020642.3:c.172del, NM_020642.3:c.172dup, NR_045417.2:n.433del, NR_045417.2:n.433dup, NR_045417.1:n.430del, NR_045417.1:n.430dup, NR_045418.2:n.433del, NR_045418.2:n.433dup, NR_045418.1:n.430del, NR_045418.1:n.430dup, NM_001206647.2:c.172del, NM_001206647.2:c.172dup, NM_001206647.1:c.172del, NM_001206647.1:c.172dup, NM_001206646.2:c.172del, NM_001206646.2:c.172dup, NM_001206646.1:c.172del, NM_001206646.1:c.172dup, NM_001206648.2:c.172del, NM_001206648.2:c.172dup, NM_001206648.1:c.172del, NM_001206648.1:c.172dup, NM_182901.3:c.172del, NM_182901.3:c.172dup, NM_182901.2:c.172del, NM_182901.2:c.172dup, XM_017018011.2:c.172del, XM_017018011.2:c.172dup, XM_017018011.1:c.172del, XM_017018011.1:c.172dup, NM_001206645.1:c.172del, NM_001206645.1:c.172dup, XM_047427261.1:c.172del, XM_047427261.1:c.172dup, NM_182901.1:c.172del, NM_182901.1:c.172dup, NP_065693.2:p.His58fs, NP_065693.2:p.His58fs, NP_001193576.1:p.His58fs, NP_001193576.1:p.His58fs, NP_001193575.1:p.His58fs, NP_001193575.1:p.His58fs, NP_001193577.1:p.His58fs, NP_001193577.1:p.His58fs, XP_016873500.1:p.His58fs, XP_016873500.1:p.His58fs, XP_047283217.1:p.His58fs, XP_047283217.1:p.His58fs

Select item 14836070454.

rs1483607045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8912476 (GRCh38)
11:8934023 (GRCh37)
Canonical SPDI:: NC_000011.10:8912475:T:C
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8912476T>C, NC_000011.9:g.8934023T>C, NG_029450.1:g.3476A>G, NG_030417.1:g.6323T>C, NM_020642.4:c.246T>C, NM_020642.3:c.246T>C, NR_045417.2:n.507T>C, NR_045417.1:n.504T>C, NM_001206647.2:c.246T>C, NM_001206647.1:c.246T>C, NM_182901.3:c.246T>C, NM_182901.2:c.246T>C, XM_017018011.2:c.246T>C, XM_017018011.1:c.246T>C, NM_182901.1:c.246T>C

Select item 14832151165.

rs1483215116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:8911549 (GRCh38)
11:8933096 (GRCh37)
Canonical SPDI:: NC_000011.10:8911548:A:C
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.8911549A>C, NC_000011.9:g.8933096A>C, NG_029450.1:g.4403T>G, NG_030417.1:g.5396A>C, NM_020642.4:c.100A>C, NM_020642.3:c.100A>C, NR_045417.2:n.361A>C, NR_045417.1:n.358A>C, NR_045418.2:n.361A>C, NR_045418.1:n.358A>C, NM_001206647.2:c.100A>C, NM_001206647.1:c.100A>C, NM_001206646.2:c.100A>C, NM_001206646.1:c.100A>C, NM_001206648.2:c.100A>C, NM_001206648.1:c.100A>C, NM_182901.3:c.100A>C, NM_182901.2:c.100A>C, XM_017018011.2:c.100A>C, XM_017018011.1:c.100A>C, NM_001206645.1:c.100A>C, XM_047427261.1:c.100A>C, NM_182901.1:c.100A>C

Select item 14817445436.

rs1481744543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:8914855 (GRCh38)
11:8936402 (GRCh37)
Canonical SPDI:: NC_000011.10:8914854:A:T
Gene:: AKIP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8914855A>T, NC_000011.9:g.8936402A>T, NG_029450.1:g.1097T>A, NG_030417.1:g.8702A>T, NM_020642.4:c.333A>T, NM_020642.3:c.333A>T, NR_045417.2:n.594A>T, NR_045417.1:n.591A>T, NR_045418.2:n.513A>T, NR_045418.1:n.510A>T, NM_001206647.2:c.333A>T, NM_001206647.1:c.333A>T, NM_001206646.2:c.252A>T, NM_001206646.1:c.252A>T, NM_001206648.2:c.252A>T, NM_001206648.1:c.252A>T, NM_182901.3:c.333A>T, NM_182901.2:c.333A>T, XM_017018011.2:c.333A>T, XM_017018011.1:c.333A>T, NM_001206645.1:c.252A>T, XM_047427261.1:c.252A>T, NM_182901.1:c.333A>T

Select item 14672284997.

rs1467228499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:8914918 (GRCh38)
11:8936465 (GRCh37)
Canonical SPDI:: NC_000011.10:8914917:A:C
Gene:: AKIP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8914918A>C, NC_000011.9:g.8936465A>C, NG_029450.1:g.1034T>G, NG_030417.1:g.8765A>C, NM_020642.4:c.396A>C, NM_020642.3:c.396A>C, NR_045417.2:n.657A>C, NR_045417.1:n.654A>C, NR_045418.2:n.576A>C, NR_045418.1:n.573A>C, NM_001206647.2:c.396A>C, NM_001206647.1:c.396A>C, NM_001206646.2:c.315A>C, NM_001206646.1:c.315A>C, NM_001206648.2:c.315A>C, NM_001206648.1:c.315A>C, NM_182901.3:c.396A>C, NM_182901.2:c.396A>C, XM_017018011.2:c.396A>C, XM_017018011.1:c.396A>C, NM_001206645.1:c.315A>C, XM_047427261.1:c.315A>C, NM_182901.1:c.396A>C

Select item 14664352428.

rs1466435242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:8917340 (GRCh38)
11:8938887 (GRCh37)
Canonical SPDI:: NC_000011.10:8917339:A:C
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8917340A>C, NC_000011.9:g.8938887A>C, NG_030417.1:g.11187A>C, NM_020642.4:c.462A>C, NM_020642.3:c.462A>C, NR_045417.2:n.723A>C, NR_045417.1:n.720A>C, NR_045418.2:n.642A>C, NR_045418.1:n.639A>C, NM_001206646.2:c.381A>C, NM_001206646.1:c.381A>C, NM_182901.3:c.462A>C, NM_182901.2:c.462A>C, XM_017018011.2:c.462A>C, XM_017018011.1:c.462A>C, NM_001206645.1:c.381A>C, XM_047427261.1:c.381A>C, NM_182901.1:c.462A>C

Select item 14653992019.

rs1465399201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:8914886 (GRCh38)
11:8936433 (GRCh37)
Canonical SPDI:: NC_000011.10:8914885:G:C
Gene:: AKIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8914886G>C, NC_000011.9:g.8936433G>C, NG_029450.1:g.1066C>G, NG_030417.1:g.8733G>C, NM_020642.4:c.364G>C, NM_020642.3:c.364G>C, NR_045417.2:n.625G>C, NR_045417.1:n.622G>C, NR_045418.2:n.544G>C, NR_045418.1:n.541G>C, NM_001206647.2:c.364G>C, NM_001206647.1:c.364G>C, NM_001206646.2:c.283G>C, NM_001206646.1:c.283G>C, NM_001206648.2:c.283G>C, NM_001206648.1:c.283G>C, NM_182901.3:c.364G>C, NM_182901.2:c.364G>C, XM_017018011.2:c.364G>C, XM_017018011.1:c.364G>C, NM_001206645.1:c.283G>C, XM_047427261.1:c.283G>C, NM_182901.1:c.364G>C, NP_065693.2:p.Gly122Arg, NP_001193576.1:p.Gly122Arg, NP_001193575.1:p.Gly95Arg, NP_001193577.1:p.Gly95Arg, XP_016873500.1:p.Gly122Arg, XP_047283217.1:p.Gly95Arg

Select item 146327059010.

rs1463270590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:8917314 (GRCh38)
11:8938861 (GRCh37)
Canonical SPDI:: NC_000011.10:8917313:G:A
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8917314G>A, NC_000011.9:g.8938861G>A, NG_030417.1:g.11161G>A, NM_020642.4:c.436G>A, NM_020642.3:c.436G>A, NR_045417.2:n.697G>A, NR_045417.1:n.694G>A, NR_045418.2:n.616G>A, NR_045418.1:n.613G>A, NM_001206646.2:c.355G>A, NM_001206646.1:c.355G>A, NM_182901.3:c.436G>A, NM_182901.2:c.436G>A, XM_017018011.2:c.436G>A, XM_017018011.1:c.436G>A, NM_001206645.1:c.355G>A, XM_047427261.1:c.355G>A, NM_182901.1:c.436G>A, NP_065693.2:p.Gly146Ser, NP_001193575.1:p.Gly119Ser, XP_016873500.1:p.Gly146Ser, XP_047283217.1:p.Gly119Ser

Select item 146198975111.

rs1461989751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:8919362 (GRCh38)
11:8940909 (GRCh37)
Canonical SPDI:: NC_000011.10:8919361:A:C
Gene:: AKIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8919362A>C, NC_000011.9:g.8940909A>C, NG_030417.1:g.13209A>C, NM_020642.4:c.515A>C, NM_020642.3:c.515A>C, NR_045417.2:n.776A>C, NR_045417.1:n.773A>C, NR_045418.2:n.695A>C, NR_045418.1:n.692A>C, NM_001206647.2:c.434A>C, NM_001206647.1:c.434A>C, NM_001206646.2:c.434A>C, NM_001206646.1:c.434A>C, NM_001206648.2:c.353A>C, NM_001206648.1:c.353A>C, NM_182901.3:c.515A>C, NM_182901.2:c.515A>C, XM_017018011.2:c.515A>C, XM_017018011.1:c.515A>C, NM_001206645.1:c.434A>C, XM_047427261.1:c.434A>C, NM_182901.1:c.515A>C, NP_065693.2:p.Tyr172Ser, NP_001193576.1:p.Tyr145Ser, NP_001193575.1:p.Tyr145Ser, NP_001193577.1:p.Tyr118Ser, XP_016873500.1:p.Tyr172Ser, XP_047283217.1:p.Tyr145Ser

Select item 145745209312.

rs1457452093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:8914860 (GRCh38)
11:8936407 (GRCh37)
Canonical SPDI:: NC_000011.10:8914859:C:A
Gene:: AKIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8914860C>A, NC_000011.9:g.8936407C>A, NG_029450.1:g.1092G>T, NG_030417.1:g.8707C>A, NM_020642.4:c.338C>A, NM_020642.3:c.338C>A, NR_045417.2:n.599C>A, NR_045417.1:n.596C>A, NR_045418.2:n.518C>A, NR_045418.1:n.515C>A, NM_001206647.2:c.338C>A, NM_001206647.1:c.338C>A, NM_001206646.2:c.257C>A, NM_001206646.1:c.257C>A, NM_001206648.2:c.257C>A, NM_001206648.1:c.257C>A, NM_182901.3:c.338C>A, NM_182901.2:c.338C>A, XM_017018011.2:c.338C>A, XM_017018011.1:c.338C>A, NM_001206645.1:c.257C>A, XM_047427261.1:c.257C>A, NM_182901.1:c.338C>A, NP_065693.2:p.Ala113Glu, NP_001193576.1:p.Ala113Glu, NP_001193575.1:p.Ala86Glu, NP_001193577.1:p.Ala86Glu, XP_016873500.1:p.Ala113Glu, XP_047283217.1:p.Ala86Glu

Select item 145589718013.

rs1455897180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8917359 (GRCh38)
11:8938906 (GRCh37)
Canonical SPDI:: NC_000011.10:8917358:T:C
Gene:: AKIP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.0022/4 (Korea1K)
HGVS:: NC_000011.10:g.8917359T>C, NC_000011.9:g.8938906T>C, NG_030417.1:g.11206T>C, NM_020642.4:c.481T>C, NM_020642.3:c.481T>C, NR_045417.2:n.742T>C, NR_045417.1:n.739T>C, NR_045418.2:n.661T>C, NR_045418.1:n.658T>C, NM_001206646.2:c.400T>C, NM_001206646.1:c.400T>C, NM_182901.3:c.481T>C, NM_182901.2:c.481T>C, XM_017018011.2:c.481T>C, XM_017018011.1:c.481T>C, NM_001206645.1:c.400T>C, XM_047427261.1:c.400T>C, NM_182901.1:c.481T>C, NP_065693.2:p.Ser161Pro, NP_001193575.1:p.Ser134Pro, XP_016873500.1:p.Ser161Pro, XP_047283217.1:p.Ser134Pro

Select item 145418680214.

rs1454186802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:8919337 (GRCh38)
11:8940884 (GRCh37)
Canonical SPDI:: NC_000011.10:8919336:G:T
Gene:: AKIP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8919337G>T, NC_000011.9:g.8940884G>T, NG_030417.1:g.13184G>T, NM_020642.4:c.490G>T, NM_020642.3:c.490G>T, NR_045417.2:n.751G>T, NR_045417.1:n.748G>T, NR_045418.2:n.670G>T, NR_045418.1:n.667G>T, NM_001206647.2:c.409G>T, NM_001206647.1:c.409G>T, NM_001206646.2:c.409G>T, NM_001206646.1:c.409G>T, NM_001206648.2:c.328G>T, NM_001206648.1:c.328G>T, NM_182901.3:c.490G>T, NM_182901.2:c.490G>T, XM_017018011.2:c.490G>T, XM_017018011.1:c.490G>T, NM_001206645.1:c.409G>T, XM_047427261.1:c.409G>T, NM_182901.1:c.490G>T, NP_065693.2:p.Ala164Ser, NP_001193576.1:p.Ala137Ser, NP_001193575.1:p.Ala137Ser, NP_001193577.1:p.Ala110Ser, XP_016873500.1:p.Ala164Ser, XP_047283217.1:p.Ala137Ser

Select item 145089435815.

rs1450894358 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:8911575 (GRCh38)
11:8933122 (GRCh37)
Canonical SPDI:: NC_000011.10:8911574:GG:G
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.8911576del, NC_000011.9:g.8933123del, NG_029450.1:g.4377del, NG_030417.1:g.5423del, NM_020642.4:c.127del, NM_020642.3:c.127del, NR_045417.2:n.388del, NR_045417.1:n.385del, NR_045418.2:n.388del, NR_045418.1:n.385del, NM_001206647.2:c.127del, NM_001206647.1:c.127del, NM_001206646.2:c.127del, NM_001206646.1:c.127del, NM_001206648.2:c.127del, NM_001206648.1:c.127del, NM_182901.3:c.127del, NM_182901.2:c.127del, XM_017018011.2:c.127del, XM_017018011.1:c.127del, NM_001206645.1:c.127del, XM_047427261.1:c.127del, NM_182901.1:c.127del, NP_065693.2:p.Glu43fs, NP_001193576.1:p.Glu43fs, NP_001193575.1:p.Glu43fs, NP_001193577.1:p.Glu43fs, XP_016873500.1:p.Glu43fs, XP_047283217.1:p.Glu43fs

Select item 144903734816.

rs1449037348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8912484 (GRCh38)
11:8934031 (GRCh37)
Canonical SPDI:: NC_000011.10:8912483:C:T
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8912484C>T, NC_000011.9:g.8934031C>T, NG_029450.1:g.3468G>A, NG_030417.1:g.6331C>T, NM_020642.4:c.254C>T, NM_020642.3:c.254C>T, NR_045417.2:n.515C>T, NR_045417.1:n.512C>T, NM_001206647.2:c.254C>T, NM_001206647.1:c.254C>T, NM_182901.3:c.254C>T, NM_182901.2:c.254C>T, XM_017018011.2:c.254C>T, XM_017018011.1:c.254C>T, NM_182901.1:c.254C>T, NP_065693.2:p.Ser85Phe, NP_001193576.1:p.Ser85Phe, XP_016873500.1:p.Ser85Phe

Select item 143737423017.

rs1437374230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8912485 (GRCh38)
11:8934032 (GRCh37)
Canonical SPDI:: NC_000011.10:8912484:C:T
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.8912485C>T, NC_000011.9:g.8934032C>T, NG_029450.1:g.3467G>A, NG_030417.1:g.6332C>T, NM_020642.4:c.255C>T, NM_020642.3:c.255C>T, NR_045417.2:n.516C>T, NR_045417.1:n.513C>T, NM_001206647.2:c.255C>T, NM_001206647.1:c.255C>T, NM_182901.3:c.255C>T, NM_182901.2:c.255C>T, XM_017018011.2:c.255C>T, XM_017018011.1:c.255C>T, NM_182901.1:c.255C>T

Select item 143353452518.

rs1433534525 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCCGGCAGCC [Show Flanks]
Chromosome:: 11:8911632 (GRCh38)
11:8933180 (GRCh37)
Canonical SPDI:: NC_000011.10:8911632:CAGCCGGCAGCC:CAGCCGGCAGCCAGCCGGCAGCC
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: CAGCCGGCAGC=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8911634_8911644dup, NC_000011.9:g.8933181_8933191dup, NG_029450.1:g.4309_4319dup, NG_030417.1:g.5481_5491dup, NM_020642.4:c.185_195dup, NM_020642.3:c.185_195dup, NR_045417.2:n.446_456dup, NR_045417.1:n.443_453dup, NR_045418.2:n.446_456dup, NR_045418.1:n.443_453dup, NM_001206647.2:c.185_195dup, NM_001206647.1:c.185_195dup, NM_001206646.2:c.185_195dup, NM_001206646.1:c.185_195dup, NM_001206648.2:c.185_195dup, NM_001206648.1:c.185_195dup, NM_182901.3:c.185_195dup, NM_182901.2:c.185_195dup, XM_017018011.2:c.185_195dup, XM_017018011.1:c.185_195dup, NM_001206645.1:c.185_195dup, XM_047427261.1:c.185_195dup, NM_182901.1:c.185_195dup, NP_065693.2:p.Gly66fs, NP_001193576.1:p.Gly66fs, NP_001193575.1:p.Gly66fs, NP_001193577.1:p.Gly66fs, XP_016873500.1:p.Gly66fs, XP_047283217.1:p.Gly66fs

Select item 143137235519.

rs1431372355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:8911508 (GRCh38)
11:8933055 (GRCh37)
Canonical SPDI:: NC_000011.10:8911507:G:A
Gene:: DENND2B (Varview), AKIP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.8911508G>A, NC_000011.9:g.8933055G>A, NG_029450.1:g.4444C>T, NG_030417.1:g.5355G>A, NM_020642.4:c.59G>A, NM_020642.3:c.59G>A, NR_045417.2:n.320G>A, NR_045417.1:n.317G>A, NR_045418.2:n.320G>A, NR_045418.1:n.317G>A, NM_001206647.2:c.59G>A, NM_001206647.1:c.59G>A, NM_001206646.2:c.59G>A, NM_001206646.1:c.59G>A, NM_001206648.2:c.59G>A, NM_001206648.1:c.59G>A, NM_182901.3:c.59G>A, NM_182901.2:c.59G>A, XM_017018011.2:c.59G>A, XM_017018011.1:c.59G>A, NM_001206645.1:c.59G>A, XM_047427261.1:c.59G>A, NM_182901.1:c.59G>A, NP_065693.2:p.Arg20His, NP_001193576.1:p.Arg20His, NP_001193575.1:p.Arg20His, NP_001193577.1:p.Arg20His, XP_016873500.1:p.Arg20His, XP_047283217.1:p.Arg20His

Select item 143005500420.

rs1430055004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:8917330 (GRCh38)
11:8938877 (GRCh37)
Canonical SPDI:: NC_000011.10:8917329:A:G
Gene:: AKIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.8917330A>G, NC_000011.9:g.8938877A>G, NG_030417.1:g.11177A>G, NM_020642.4:c.452A>G, NM_020642.3:c.452A>G, NR_045417.2:n.713A>G, NR_045417.1:n.710A>G, NR_045418.2:n.632A>G, NR_045418.1:n.629A>G, NM_001206646.2:c.371A>G, NM_001206646.1:c.371A>G, NM_182901.3:c.452A>G, NM_182901.2:c.452A>G, XM_017018011.2:c.452A>G, XM_017018011.1:c.452A>G, NM_001206645.1:c.371A>G, XM_047427261.1:c.371A>G, NM_182901.1:c.452A>G, NP_065693.2:p.Tyr151Cys, NP_001193575.1:p.Tyr124Cys, XP_016873500.1:p.Tyr151Cys, XP_047283217.1:p.Tyr124Cys

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