SNP Links for Protein (Select 71773480) - SNP

Links from Protein

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Select item 14908379351.

rs1490837935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:200615998 (GRCh38)
2:201480721 (GRCh37)
Canonical SPDI:: NC_000002.12:200615997:G:A
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.200615998G>A, NC_000002.11:g.201480721G>A, NM_001159.4:c.1639G>A, NM_001159.3:c.1639G>A, XM_017003947.3:c.1639G>A, XM_017003947.2:c.1639G>A, XM_017003947.1:c.1639G>A, XM_011511062.2:c.1639G>A, XM_011511062.1:c.1639G>A, XM_017003946.2:c.1639G>A, XM_017003946.1:c.1639G>A, XR_007073113.1:n.1734G>A, NP_001150.3:p.Asp547Asn, XP_016859436.1:p.Asp547Asn, XP_011509364.1:p.Asp547Asn, XP_016859435.1:p.Asp547Asn

Select item 14902915892.

rs1490291589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:200666745 (GRCh38)
2:201531468 (GRCh37)
Canonical SPDI:: NC_000002.12:200666744:T:C
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200666745T>C, NC_000002.11:g.201531468T>C, NM_001159.4:c.3602T>C, NM_001159.3:c.3602T>C, XM_011511062.2:c.3602T>C, XM_011511062.1:c.3602T>C, XR_007073113.1:n.3697T>C, NP_001150.3:p.Ile1201Thr, XP_011509364.1:p.Ile1201Thr

Select item 14888700523.

rs1488870052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200650999 (GRCh38)
2:201515722 (GRCh37)
Canonical SPDI:: NC_000002.12:200650998:A:G
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.200650999A>G, NC_000002.11:g.201515722A>G, NM_001159.4:c.2873A>G, NM_001159.3:c.2873A>G, XM_017003947.3:c.2873A>G, XM_017003947.2:c.2873A>G, XM_017003947.1:c.2873A>G, XM_011511062.2:c.2873A>G, XM_011511062.1:c.2873A>G, XM_017003946.2:c.2873A>G, XM_017003946.1:c.2873A>G, XR_007073113.1:n.2968A>G, NP_001150.3:p.Glu958Gly, XP_016859436.1:p.Glu958Gly, XP_011509364.1:p.Glu958Gly, XP_016859435.1:p.Glu958Gly

Select item 14877899554.

rs1487789955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:200641176 (GRCh38)
2:201505900 (GRCh37)
Canonical SPDI:: NC_000002.12:200641176:C:CC
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.200641177dup, NC_000002.11:g.201505900dup, NM_001159.4:c.2648dup, NM_001159.3:c.2648dup, XM_017003947.3:c.2648dup, XM_017003947.2:c.2648dup, XM_017003947.1:c.2648dup, XM_011511062.2:c.2648dup, XM_011511062.1:c.2648dup, XM_017003946.2:c.2648dup, XM_017003946.1:c.2648dup, XR_007073113.1:n.2743dup, NP_001150.3:p.Leu884fs, XP_016859436.1:p.Leu884fs, XP_011509364.1:p.Leu884fs, XP_016859435.1:p.Leu884fs

Select item 14862930545.

rs1486293054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:200669669 (GRCh38)
2:201534392 (GRCh37)
Canonical SPDI:: NC_000002.12:200669668:G:A,NC_000002.12:200669668:G:C
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200669669G>A, NC_000002.12:g.200669669G>C, NC_000002.11:g.201534392G>A, NC_000002.11:g.201534392G>C, NM_001159.4:c.3893G>A, NM_001159.4:c.3893G>C, NM_001159.3:c.3893G>A, NM_001159.3:c.3893G>C, XM_017003947.3:c.3827G>A, XM_017003947.3:c.3827G>C, XM_017003947.2:c.3827G>A, XM_017003947.2:c.3827G>C, XM_017003947.1:c.3827G>A, XM_017003947.1:c.3827G>C, XM_011511062.2:c.3893G>A, XM_011511062.2:c.3893G>C, XM_011511062.1:c.3893G>A, XM_011511062.1:c.3893G>C, XM_017003946.2:c.3827G>A, XM_017003946.2:c.3827G>C, XM_017003946.1:c.3827G>A, XM_017003946.1:c.3827G>C, XR_007073113.1:n.3988G>A, XR_007073113.1:n.3988G>C, NP_001150.3:p.Gly1298Glu, NP_001150.3:p.Gly1298Ala, XP_016859436.1:p.Gly1276Glu, XP_016859436.1:p.Gly1276Ala, XP_011509364.1:p.Gly1298Glu, XP_011509364.1:p.Gly1298Ala, XP_016859435.1:p.Gly1276Glu, XP_016859435.1:p.Gly1276Ala

Select item 14858465216.

rs1485846521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:200595284 (GRCh38)
2:201460007 (GRCh37)
Canonical SPDI:: NC_000002.12:200595283:G:T
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200595284G>T, NC_000002.11:g.201460007G>T, NM_001159.4:c.116G>T, NM_001159.3:c.116G>T, XM_017003947.3:c.116G>T, XM_017003947.2:c.116G>T, XM_017003947.1:c.116G>T, XM_011511062.2:c.116G>T, XM_011511062.1:c.116G>T, XM_017003946.2:c.116G>T, XM_017003946.1:c.116G>T, XR_007073113.1:n.211G>T, NP_001150.3:p.Gly39Val, XP_016859436.1:p.Gly39Val, XP_011509364.1:p.Gly39Val, XP_016859435.1:p.Gly39Val

Select item 14852235747.

rs1485223574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:200621127 (GRCh38)
2:201485850 (GRCh37)
Canonical SPDI:: NC_000002.12:200621126:G:T
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.200621127G>T, NC_000002.11:g.201485850G>T, NM_001159.4:c.1882G>T, NM_001159.3:c.1882G>T, XM_017003947.3:c.1882G>T, XM_017003947.2:c.1882G>T, XM_017003947.1:c.1882G>T, XM_011511062.2:c.1882G>T, XM_011511062.1:c.1882G>T, XM_017003946.2:c.1882G>T, XM_017003946.1:c.1882G>T, XR_007073113.1:n.1977G>T, NP_001150.3:p.Asp628Tyr, XP_016859436.1:p.Asp628Tyr, XP_011509364.1:p.Asp628Tyr, XP_016859435.1:p.Asp628Tyr

Select item 14843327648.

rs1484332764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:200662966 (GRCh38)
2:201527689 (GRCh37)
Canonical SPDI:: NC_000002.12:200662965:T:C
Gene:: AOX1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200662966T>C, NC_000002.11:g.201527689T>C, NM_001159.4:c.3540T>C, NM_001159.3:c.3540T>C, XM_017003947.3:c.3540T>C, XM_017003947.2:c.3540T>C, XM_017003947.1:c.3540T>C, XM_011511062.2:c.3540T>C, XM_011511062.1:c.3540T>C, XM_017003946.2:c.3540T>C, XM_017003946.1:c.3540T>C, XR_007073113.1:n.3635T>C

Select item 14835769349.

rs1483576934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:200670636 (GRCh38)
2:201535359 (GRCh37)
Canonical SPDI:: NC_000002.12:200670635:G:C
Gene:: AOX1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.200670636G>C, NC_000002.11:g.201535359G>C, NM_001159.4:c.3974G>C, NM_001159.3:c.3974G>C, XM_017003947.3:c.3908G>C, XM_017003947.2:c.3908G>C, XM_017003947.1:c.3908G>C, NP_001150.3:p.Arg1325Thr, XP_016859436.1:p.Arg1303Thr

Select item 148153389110.

rs1481533891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:200608985 (GRCh38)
2:201473708 (GRCh37)
Canonical SPDI:: NC_000002.12:200608984:A:C
Gene:: AOX1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200608985A>C, NC_000002.11:g.201473708A>C, NG_082788.1:g.466A>C, NM_001159.4:c.909A>C, NM_001159.3:c.909A>C, XM_017003947.3:c.909A>C, XM_017003947.2:c.909A>C, XM_017003947.1:c.909A>C, XM_011511062.2:c.909A>C, XM_011511062.1:c.909A>C, XM_017003946.2:c.909A>C, XM_017003946.1:c.909A>C, XR_007073113.1:n.1004A>C

Select item 148136347211.

rs1481363472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200620742 (GRCh38)
2:201485465 (GRCh37)
Canonical SPDI:: NC_000002.12:200620741:C:T
Gene:: AOX1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.200620742C>T, NC_000002.11:g.201485465C>T, NM_001159.4:c.1797C>T, NM_001159.3:c.1797C>T, XM_017003947.3:c.1797C>T, XM_017003947.2:c.1797C>T, XM_017003947.1:c.1797C>T, XM_011511062.2:c.1797C>T, XM_011511062.1:c.1797C>T, XM_017003946.2:c.1797C>T, XM_017003946.1:c.1797C>T, XR_007073113.1:n.1892C>T

Select item 148042077112.

rs1480420771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:200620756 (GRCh38)
2:201485479 (GRCh37)
Canonical SPDI:: NC_000002.12:200620755:C:G,NC_000002.12:200620755:C:T
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200620756C>G, NC_000002.12:g.200620756C>T, NC_000002.11:g.201485479C>G, NC_000002.11:g.201485479C>T, NM_001159.4:c.1811C>G, NM_001159.4:c.1811C>T, NM_001159.3:c.1811C>G, NM_001159.3:c.1811C>T, XM_017003947.3:c.1811C>G, XM_017003947.3:c.1811C>T, XM_017003947.2:c.1811C>G, XM_017003947.2:c.1811C>T, XM_017003947.1:c.1811C>G, XM_017003947.1:c.1811C>T, XM_011511062.2:c.1811C>G, XM_011511062.2:c.1811C>T, XM_011511062.1:c.1811C>G, XM_011511062.1:c.1811C>T, XM_017003946.2:c.1811C>G, XM_017003946.2:c.1811C>T, XM_017003946.1:c.1811C>G, XM_017003946.1:c.1811C>T, XR_007073113.1:n.1906C>G, XR_007073113.1:n.1906C>T, NP_001150.3:p.Pro604Arg, NP_001150.3:p.Pro604Leu, XP_016859436.1:p.Pro604Arg, XP_016859436.1:p.Pro604Leu, XP_011509364.1:p.Pro604Arg, XP_011509364.1:p.Pro604Leu, XP_016859435.1:p.Pro604Arg, XP_016859435.1:p.Pro604Leu

Select item 147936015213.

rs1479360152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200620691 (GRCh38)
2:201485414 (GRCh37)
Canonical SPDI:: NC_000002.12:200620690:C:T
Gene:: AOX1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.200620691C>T, NC_000002.11:g.201485414C>T, NM_001159.4:c.1746C>T, NM_001159.3:c.1746C>T, XM_017003947.3:c.1746C>T, XM_017003947.2:c.1746C>T, XM_017003947.1:c.1746C>T, XM_011511062.2:c.1746C>T, XM_011511062.1:c.1746C>T, XM_017003946.2:c.1746C>T, XM_017003946.1:c.1746C>T, XR_007073113.1:n.1841C>T

Select item 147933673514.

rs1479336735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:200651182 (GRCh38)
2:201515905 (GRCh37)
Canonical SPDI:: NC_000002.12:200651181:G:T
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.200651182G>T, NC_000002.11:g.201515905G>T, NM_001159.4:c.3056G>T, NM_001159.3:c.3056G>T, XM_017003947.3:c.3056G>T, XM_017003947.2:c.3056G>T, XM_017003947.1:c.3056G>T, XM_011511062.2:c.3056G>T, XM_011511062.1:c.3056G>T, XM_017003946.2:c.3056G>T, XM_017003946.1:c.3056G>T, XR_007073113.1:n.3151G>T, NP_001150.3:p.Gly1019Val, XP_016859436.1:p.Gly1019Val, XP_011509364.1:p.Gly1019Val, XP_016859435.1:p.Gly1019Val

Select item 147902871515.

rs1479028715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:200597464 (GRCh38)
2:201462187 (GRCh37)
Canonical SPDI:: NC_000002.12:200597463:G:T
Gene:: AOX1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200597464G>T, NC_000002.11:g.201462187G>T, NM_001159.4:c.268G>T, NM_001159.3:c.268G>T, XM_017003947.3:c.268G>T, XM_017003947.2:c.268G>T, XM_017003947.1:c.268G>T, XM_011511062.2:c.268G>T, XM_011511062.1:c.268G>T, XM_017003946.2:c.268G>T, XM_017003946.1:c.268G>T, XR_007073113.1:n.363G>T, NP_001150.3:p.Glu90Ter, XP_016859436.1:p.Glu90Ter, XP_011509364.1:p.Glu90Ter, XP_016859435.1:p.Glu90Ter

Select item 147840815116.

rs1478408151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200623940 (GRCh38)
2:201488663 (GRCh37)
Canonical SPDI:: NC_000002.12:200623939:A:G
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200623940A>G, NC_000002.11:g.201488663A>G, NM_001159.4:c.2081A>G, NM_001159.3:c.2081A>G, XM_017003947.3:c.2081A>G, XM_017003947.2:c.2081A>G, XM_017003947.1:c.2081A>G, XM_011511062.2:c.2081A>G, XM_011511062.1:c.2081A>G, XM_017003946.2:c.2081A>G, XM_017003946.1:c.2081A>G, XR_007073113.1:n.2176A>G, NP_001150.3:p.Lys694Arg, XP_016859436.1:p.Lys694Arg, XP_011509364.1:p.Lys694Arg, XP_016859435.1:p.Lys694Arg

Select item 147837134317.

rs1478371343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200627363 (GRCh38)
2:201492086 (GRCh37)
Canonical SPDI:: NC_000002.12:200627362:A:G
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.200627363A>G, NC_000002.11:g.201492086A>G, NM_001159.4:c.2135A>G, NM_001159.3:c.2135A>G, XM_017003947.3:c.2135A>G, XM_017003947.2:c.2135A>G, XM_017003947.1:c.2135A>G, XM_011511062.2:c.2135A>G, XM_011511062.1:c.2135A>G, XM_017003946.2:c.2135A>G, XM_017003946.1:c.2135A>G, XR_007073113.1:n.2230A>G, NP_001150.3:p.Gln712Arg, XP_016859436.1:p.Gln712Arg, XP_011509364.1:p.Gln712Arg, XP_016859435.1:p.Gln712Arg

Select item 147794262218.

rs1477942622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:200621139 (GRCh38)
2:201485862 (GRCh37)
Canonical SPDI:: NC_000002.12:200621138:G:T
Gene:: AOX1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.200621139G>T, NC_000002.11:g.201485862G>T, NM_001159.4:c.1894G>T, NM_001159.3:c.1894G>T, XM_017003947.3:c.1894G>T, XM_017003947.2:c.1894G>T, XM_017003947.1:c.1894G>T, XM_011511062.2:c.1894G>T, XM_011511062.1:c.1894G>T, XM_017003946.2:c.1894G>T, XM_017003946.1:c.1894G>T, XR_007073113.1:n.1989G>T, NP_001150.3:p.Ala632Ser, XP_016859436.1:p.Ala632Ser, XP_011509364.1:p.Ala632Ser, XP_016859435.1:p.Ala632Ser

Select item 147787654419.

rs1477876544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:200612648 (GRCh38)
2:201477371 (GRCh37)
Canonical SPDI:: NC_000002.12:200612647:G:T
Gene:: AOX1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
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.200612648G>T, NC_000002.11:g.201477371G>T, NM_001159.4:c.1303G>T, NM_001159.3:c.1303G>T, XM_017003947.3:c.1303G>T, XM_017003947.2:c.1303G>T, XM_017003947.1:c.1303G>T, XM_011511062.2:c.1303G>T, XM_011511062.1:c.1303G>T, XM_017003946.2:c.1303G>T, XM_017003946.1:c.1303G>T, XR_007073113.1:n.1398G>T, NP_001150.3:p.Glu435Ter, XP_016859436.1:p.Glu435Ter, XP_011509364.1:p.Glu435Ter, XP_016859435.1:p.Glu435Ter

Select item 147780917820.

rs1477809178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:200642756 (GRCh38)
2:201507479 (GRCh37)
Canonical SPDI:: NC_000002.12:200642755:T:G
Gene:: AOX1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200642756T>G, NC_000002.11:g.201507479T>G, NM_001159.4:c.2802T>G, NM_001159.3:c.2802T>G, XM_017003947.3:c.2802T>G, XM_017003947.2:c.2802T>G, XM_017003947.1:c.2802T>G, XM_011511062.2:c.2802T>G, XM_011511062.1:c.2802T>G, XM_017003946.2:c.2802T>G, XM_017003946.1:c.2802T>G, XR_007073113.1:n.2897T>G

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