SNP Links for Protein (Select 1145521979) - SNP

Links from Protein

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Select item 14861915111.

rs1486191511 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 15:82282366 (GRCh38)
15:82574707 (GRCh37)
Canonical SPDI:: NC_000015.10:82282365:AAAA:AAA
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82282369del, NC_000015.9:g.82574710del, XM_024449902.2:c.669del, XM_024449902.1:c.669del, NM_001348700.2:c.543del, NM_001348700.1:c.543del, NM_001348702.2:c.459del, NM_001348702.1:c.459del, NM_001348701.2:c.543del, NM_001348701.1:c.543del, NM_001348699.2:c.684del, NM_001348699.1:c.684del, NM_001348703.2:c.459del, NM_001348703.1:c.459del, NM_001348704.2:c.279del, NM_001348704.1:c.279del, NM_001008226.2:c.504del, NM_001008226.1:c.504del, NM_001348706.2:c.*241del, NM_001348706.1:c.*241del, XM_047432398.1:c.669del, XP_024305670.1:p.Glu224fs, NP_001335629.1:p.Glu182fs, NP_001335631.1:p.Glu154fs, NP_001335630.1:p.Glu182fs, NP_001335628.1:p.Glu229fs, NP_001335632.1:p.Glu154fs, NP_001335633.1:p.Glu94fs, NP_001008227.1:p.Glu169fs, XP_047288354.1:p.Glu224fs

Select item 14858030012.

rs1485803001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:82271637 (GRCh38)
15:82563978 (GRCh37)
Canonical SPDI:: NC_000015.10:82271636:C:A,NC_000015.10:82271636:C:T
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82271637C>A, NC_000015.10:g.82271637C>T, NC_000015.9:g.82563978C>A, NC_000015.9:g.82563978C>T, XM_024449902.2:c.253C>A, XM_024449902.2:c.253C>T, XM_024449902.1:c.253C>A, XM_024449902.1:c.253C>T, NM_001348700.2:c.127C>A, NM_001348700.2:c.127C>T, NM_001348700.1:c.127C>A, NM_001348700.1:c.127C>T, NM_001348702.2:c.43C>A, NM_001348702.2:c.43C>T, NM_001348702.1:c.43C>A, NM_001348702.1:c.43C>T, NM_001348701.2:c.127C>A, NM_001348701.2:c.127C>T, NM_001348701.1:c.127C>A, NM_001348701.1:c.127C>T, NM_001348699.2:c.268C>A, NM_001348699.2:c.268C>T, NM_001348699.1:c.268C>A, NM_001348699.1:c.268C>T, NM_001348703.2:c.43C>A, NM_001348703.2:c.43C>T, NM_001348703.1:c.43C>A, NM_001348703.1:c.43C>T, NM_001008226.2:c.88C>A, NM_001008226.2:c.88C>T, NM_001008226.1:c.88C>A, NM_001008226.1:c.88C>T, XM_047432398.1:c.253C>A, XM_047432398.1:c.253C>T, XP_024305670.1:p.Pro85Thr, XP_024305670.1:p.Pro85Ser, NP_001335629.1:p.Pro43Thr, NP_001335629.1:p.Pro43Ser, NP_001335631.1:p.Pro15Thr, NP_001335631.1:p.Pro15Ser, NP_001335630.1:p.Pro43Thr, NP_001335630.1:p.Pro43Ser, NP_001335628.1:p.Pro90Thr, NP_001335628.1:p.Pro90Ser, NP_001335632.1:p.Pro15Thr, NP_001335632.1:p.Pro15Ser, NP_001008227.1:p.Pro30Thr, NP_001008227.1:p.Pro30Ser, XP_047288354.1:p.Pro85Thr, XP_047288354.1:p.Pro85Ser

Select item 14846137853.

rs1484613785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82271673 (GRCh38)
15:82564014 (GRCh37)
Canonical SPDI:: NC_000015.10:82271672:G:A
Gene:: SAXO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_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_000015.10:g.82271673G>A, NC_000015.9:g.82564014G>A, XM_024449902.2:c.289G>A, XM_024449902.1:c.289G>A, NM_001348700.2:c.163G>A, NM_001348700.1:c.163G>A, NM_001348702.2:c.79G>A, NM_001348702.1:c.79G>A, NM_001348701.2:c.163G>A, NM_001348701.1:c.163G>A, NM_001348699.2:c.304G>A, NM_001348699.1:c.304G>A, NM_001348703.2:c.79G>A, NM_001348703.1:c.79G>A, NM_001008226.2:c.124G>A, NM_001008226.1:c.124G>A, XM_047432398.1:c.289G>A, XP_024305670.1:p.Gly97Arg, NP_001335629.1:p.Gly55Arg, NP_001335631.1:p.Gly27Arg, NP_001335630.1:p.Gly55Arg, NP_001335628.1:p.Gly102Arg, NP_001335632.1:p.Gly27Arg, NP_001008227.1:p.Gly42Arg, XP_047288354.1:p.Gly97Arg

Select item 14794942754.

rs1479494275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:82282239 (GRCh38)
15:82574580 (GRCh37)
Canonical SPDI:: NC_000015.10:82282238:A:C
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000015.10:g.82282239A>C, NC_000015.9:g.82574580A>C, XM_024449902.2:c.539A>C, XM_024449902.1:c.539A>C, NM_001348700.2:c.413A>C, NM_001348700.1:c.413A>C, NM_001348702.2:c.329A>C, NM_001348702.1:c.329A>C, NM_001348701.2:c.413A>C, NM_001348701.1:c.413A>C, NM_001348699.2:c.554A>C, NM_001348699.1:c.554A>C, NM_001348703.2:c.329A>C, NM_001348703.1:c.329A>C, NM_001348704.2:c.149A>C, NM_001348704.1:c.149A>C, NM_001008226.2:c.374A>C, NM_001008226.1:c.374A>C, NM_001348706.2:c.*111A>C, NM_001348706.1:c.*111A>C, XM_047432398.1:c.539A>C, XP_024305670.1:p.Glu180Ala, NP_001335629.1:p.Glu138Ala, NP_001335631.1:p.Glu110Ala, NP_001335630.1:p.Glu138Ala, NP_001335628.1:p.Glu185Ala, NP_001335632.1:p.Glu110Ala, NP_001335633.1:p.Glu50Ala, NP_001008227.1:p.Glu125Ala, XP_047288354.1:p.Glu180Ala

Select item 14787642205.

rs1478764220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACT>- [Show Flanks]
Chromosome:: 15:82282187 (GRCh38)
15:82574528 (GRCh37)
Canonical SPDI:: NC_000015.10:82282184:CTACT:CT
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000043/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282187_82282189del, NC_000015.9:g.82574528_82574530del, XM_024449902.2:c.487_489del, XM_024449902.1:c.487_489del, NM_001348700.2:c.361_363del, NM_001348700.1:c.361_363del, NM_001348702.2:c.277_279del, NM_001348702.1:c.277_279del, NM_001348701.2:c.361_363del, NM_001348701.1:c.361_363del, NM_001348699.2:c.502_504del, NM_001348699.1:c.502_504del, NM_001348703.2:c.277_279del, NM_001348703.1:c.277_279del, NM_001348704.2:c.97_99del, NM_001348704.1:c.97_99del, NM_001008226.2:c.322_324del, NM_001008226.1:c.322_324del, NM_001348706.2:c.*59_*61del, NM_001348706.1:c.*59_*61del, XM_047432398.1:c.487_489del, XP_024305670.1:p.Thr163del, NP_001335629.1:p.Thr121del, NP_001335631.1:p.Thr93del, NP_001335630.1:p.Thr121del, NP_001335628.1:p.Thr168del, NP_001335632.1:p.Thr93del, NP_001335633.1:p.Thr33del, NP_001008227.1:p.Thr108del, XP_047288354.1:p.Thr163del

Select item 14774663096.

rs1477466309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:82271777 (GRCh38)
15:82564118 (GRCh37)
Canonical SPDI:: NC_000015.10:82271776:A:G
Gene:: SAXO2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.82271777A>G, NC_000015.9:g.82564118A>G, XM_024449902.2:c.393A>G, XM_024449902.1:c.393A>G, NM_001348700.2:c.267A>G, NM_001348700.1:c.267A>G, NM_001348702.2:c.183A>G, NM_001348702.1:c.183A>G, NM_001348701.2:c.267A>G, NM_001348701.1:c.267A>G, NM_001348699.2:c.408A>G, NM_001348699.1:c.408A>G, NM_001348703.2:c.183A>G, NM_001348703.1:c.183A>G, NM_001008226.2:c.228A>G, NM_001008226.1:c.228A>G, XM_047432398.1:c.393A>G

Select item 14741780947.

rs1474178094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:82282790 (GRCh38)
15:82575131 (GRCh37)
Canonical SPDI:: NC_000015.10:82282789:C:G,NC_000015.10:82282789:C:T
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.82282790C>G, NC_000015.10:g.82282790C>T, NC_000015.9:g.82575131C>G, NC_000015.9:g.82575131C>T, XM_024449902.2:c.1090C>G, XM_024449902.2:c.1090C>T, XM_024449902.1:c.1090C>G, XM_024449902.1:c.1090C>T, NM_001348700.2:c.964C>G, NM_001348700.2:c.964C>T, NM_001348700.1:c.964C>G, NM_001348700.1:c.964C>T, NM_001348702.2:c.880C>G, NM_001348702.2:c.880C>T, NM_001348702.1:c.880C>G, NM_001348702.1:c.880C>T, NM_001348701.2:c.964C>G, NM_001348701.2:c.964C>T, NM_001348701.1:c.964C>G, NM_001348701.1:c.964C>T, NM_001348699.2:c.1105C>G, NM_001348699.2:c.1105C>T, NM_001348699.1:c.1105C>G, NM_001348699.1:c.1105C>T, NM_001348703.2:c.880C>G, NM_001348703.2:c.880C>T, NM_001348703.1:c.880C>G, NM_001348703.1:c.880C>T, NM_001348704.2:c.700C>G, NM_001348704.2:c.700C>T, NM_001348704.1:c.700C>G, NM_001348704.1:c.700C>T, NM_001008226.2:c.925C>G, NM_001008226.2:c.925C>T, NM_001008226.1:c.925C>G, NM_001008226.1:c.925C>T, NM_001348706.2:c.*662C>G, NM_001348706.2:c.*662C>T, NM_001348706.1:c.*662C>G, NM_001348706.1:c.*662C>T, XM_047432398.1:c.1090C>G, XM_047432398.1:c.1090C>T, XP_024305670.1:p.Pro364Ala, XP_024305670.1:p.Pro364Ser, NP_001335629.1:p.Pro322Ala, NP_001335629.1:p.Pro322Ser, NP_001335631.1:p.Pro294Ala, NP_001335631.1:p.Pro294Ser, NP_001335630.1:p.Pro322Ala, NP_001335630.1:p.Pro322Ser, NP_001335628.1:p.Pro369Ala, NP_001335628.1:p.Pro369Ser, NP_001335632.1:p.Pro294Ala, NP_001335632.1:p.Pro294Ser, NP_001335633.1:p.Pro234Ala, NP_001335633.1:p.Pro234Ser, NP_001008227.1:p.Pro309Ala, NP_001008227.1:p.Pro309Ser, XP_047288354.1:p.Pro364Ala, XP_047288354.1:p.Pro364Ser

Select item 14734925688.

rs1473492568 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 15:82282635 (GRCh38)
15:82574977 (GRCh37)
Canonical SPDI:: NC_000015.10:82282635:ATAT:ATATAT
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
AT=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82282636AT[3], NC_000015.9:g.82574977AT[3], XM_024449902.2:c.938_939dup, XM_024449902.1:c.938_939dup, NM_001348700.2:c.812_813dup, NM_001348700.1:c.812_813dup, NM_001348702.2:c.728_729dup, NM_001348702.1:c.728_729dup, NM_001348701.2:c.812_813dup, NM_001348701.1:c.812_813dup, NM_001348699.2:c.953_954dup, NM_001348699.1:c.953_954dup, NM_001348703.2:c.728_729dup, NM_001348703.1:c.728_729dup, NM_001348704.2:c.548_549dup, NM_001348704.1:c.548_549dup, NM_001008226.2:c.773_774dup, NM_001008226.1:c.773_774dup, NM_001348706.2:c.*508AT[3], NM_001348706.1:c.*508AT[3], XM_047432398.1:c.938_939dup, XP_024305670.1:p.Gln314fs, NP_001335629.1:p.Gln272fs, NP_001335631.1:p.Gln244fs, NP_001335630.1:p.Gln272fs, NP_001335628.1:p.Gln319fs, NP_001335632.1:p.Gln244fs, NP_001335633.1:p.Gln184fs, NP_001008227.1:p.Gln259fs, XP_047288354.1:p.Gln314fs

Select item 14730436979.

rs1473043697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:82282679 (GRCh38)
15:82575020 (GRCh37)
Canonical SPDI:: NC_000015.10:82282678:A:T
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282679A>T, NC_000015.9:g.82575020A>T, XM_024449902.2:c.979A>T, XM_024449902.1:c.979A>T, NM_001348700.2:c.853A>T, NM_001348700.1:c.853A>T, NM_001348702.2:c.769A>T, NM_001348702.1:c.769A>T, NM_001348701.2:c.853A>T, NM_001348701.1:c.853A>T, NM_001348699.2:c.994A>T, NM_001348699.1:c.994A>T, NM_001348703.2:c.769A>T, NM_001348703.1:c.769A>T, NM_001348704.2:c.589A>T, NM_001348704.1:c.589A>T, NM_001008226.2:c.814A>T, NM_001008226.1:c.814A>T, NM_001348706.2:c.*551A>T, NM_001348706.1:c.*551A>T, XM_047432398.1:c.979A>T, XP_024305670.1:p.Lys327Ter, NP_001335629.1:p.Lys285Ter, NP_001335631.1:p.Lys257Ter, NP_001335630.1:p.Lys285Ter, NP_001335628.1:p.Lys332Ter, NP_001335632.1:p.Lys257Ter, NP_001335633.1:p.Lys197Ter, NP_001008227.1:p.Lys272Ter, XP_047288354.1:p.Lys327Ter

Select item 147128321310.

rs1471283213 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAG [Show Flanks]
Chromosome:: 15:82282590 (GRCh38)
15:82574932 (GRCh37)
Canonical SPDI:: NC_000015.10:82282590:AGGTAG:AGGTAGGTAG
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,inframe_indel,genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: AGGT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282593_82282596dup, NC_000015.9:g.82574934_82574937dup, XM_024449902.2:c.893_896dup, XM_024449902.1:c.893_896dup, NM_001348700.2:c.767_770dup, NM_001348700.1:c.767_770dup, NM_001348702.2:c.683_686dup, NM_001348702.1:c.683_686dup, NM_001348701.2:c.767_770dup, NM_001348701.1:c.767_770dup, NM_001348699.2:c.908_911dup, NM_001348699.1:c.908_911dup, NM_001348703.2:c.683_686dup, NM_001348703.1:c.683_686dup, NM_001348704.2:c.503_506dup, NM_001348704.1:c.503_506dup, NM_001008226.2:c.728_731dup, NM_001008226.1:c.728_731dup, NM_001348706.2:c.*465_*468dup, NM_001348706.1:c.*465_*468dup, XM_047432398.1:c.893_896dup, XP_024305670.1:p.Ser299delinsArgTer, NP_001335629.1:p.Ser257delinsArgTer, NP_001335631.1:p.Ser229delinsArgTer, NP_001335630.1:p.Ser257delinsArgTer, NP_001335628.1:p.Ser304delinsArgTer, NP_001335632.1:p.Ser229delinsArgTer, NP_001335633.1:p.Ser169delinsArgTer, NP_001008227.1:p.Ser244delinsArgTer, XP_047288354.1:p.Ser299delinsArgTer

Select item 146966473311.

rs1469664733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82282913 (GRCh38)
15:82575254 (GRCh37)
Canonical SPDI:: NC_000015.10:82282912:G:A
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282913G>A, NC_000015.9:g.82575254G>A, XM_024449902.2:c.1213G>A, XM_024449902.1:c.1213G>A, NM_001348700.2:c.1087G>A, NM_001348700.1:c.1087G>A, NM_001348702.2:c.1003G>A, NM_001348702.1:c.1003G>A, NM_001348701.2:c.1087G>A, NM_001348701.1:c.1087G>A, NM_001348699.2:c.1228G>A, NM_001348699.1:c.1228G>A, NM_001348703.2:c.1003G>A, NM_001348703.1:c.1003G>A, NM_001348704.2:c.823G>A, NM_001348704.1:c.823G>A, NM_001008226.2:c.1048G>A, NM_001008226.1:c.1048G>A, NM_001348706.2:c.*785G>A, NM_001348706.1:c.*785G>A, XM_047432398.1:c.1213G>A, XP_024305670.1:p.Val405Ile, NP_001335629.1:p.Val363Ile, NP_001335631.1:p.Val335Ile, NP_001335630.1:p.Val363Ile, NP_001335628.1:p.Val410Ile, NP_001335632.1:p.Val335Ile, NP_001335633.1:p.Val275Ile, NP_001008227.1:p.Val350Ile, XP_047288354.1:p.Val405Ile

Select item 146843344812.

rs1468433448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:82282479 (GRCh38)
15:82574820 (GRCh37)
Canonical SPDI:: NC_000015.10:82282478:G:C
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.82282479G>C, NC_000015.9:g.82574820G>C, XM_024449902.2:c.779G>C, XM_024449902.1:c.779G>C, NM_001348700.2:c.653G>C, NM_001348700.1:c.653G>C, NM_001348702.2:c.569G>C, NM_001348702.1:c.569G>C, NM_001348701.2:c.653G>C, NM_001348701.1:c.653G>C, NM_001348699.2:c.794G>C, NM_001348699.1:c.794G>C, NM_001348703.2:c.569G>C, NM_001348703.1:c.569G>C, NM_001348704.2:c.389G>C, NM_001348704.1:c.389G>C, NM_001008226.2:c.614G>C, NM_001008226.1:c.614G>C, NM_001348706.2:c.*351G>C, NM_001348706.1:c.*351G>C, XM_047432398.1:c.779G>C, XP_024305670.1:p.Arg260Thr, NP_001335629.1:p.Arg218Thr, NP_001335631.1:p.Arg190Thr, NP_001335630.1:p.Arg218Thr, NP_001335628.1:p.Arg265Thr, NP_001335632.1:p.Arg190Thr, NP_001335633.1:p.Arg130Thr, NP_001008227.1:p.Arg205Thr, XP_047288354.1:p.Arg260Thr

Select item 146562264213.

rs1465622642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82271634 (GRCh38)
15:82563975 (GRCh37)
Canonical SPDI:: NC_000015.10:82271633:C:T
Gene:: SAXO2 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82271634C>T, NC_000015.9:g.82563975C>T, XM_024449902.2:c.250C>T, XM_024449902.1:c.250C>T, NM_001348700.2:c.124C>T, NM_001348700.1:c.124C>T, NM_001348702.2:c.40C>T, NM_001348702.1:c.40C>T, NM_001348701.2:c.124C>T, NM_001348701.1:c.124C>T, NM_001348699.2:c.265C>T, NM_001348699.1:c.265C>T, NM_001348703.2:c.40C>T, NM_001348703.1:c.40C>T, NM_001008226.2:c.85C>T, NM_001008226.1:c.85C>T, XM_047432398.1:c.250C>T, XP_024305670.1:p.Gln84Ter, NP_001335629.1:p.Gln42Ter, NP_001335631.1:p.Gln14Ter, NP_001335630.1:p.Gln42Ter, NP_001335628.1:p.Gln89Ter, NP_001335632.1:p.Gln14Ter, NP_001008227.1:p.Gln29Ter, XP_047288354.1:p.Gln84Ter

Select item 146219830714.

rs1462198307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:82282934 (GRCh38)
15:82575275 (GRCh37)
Canonical SPDI:: NC_000015.10:82282933:T:A
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.82282934T>A, NC_000015.9:g.82575275T>A, XM_024449902.2:c.1234T>A, XM_024449902.1:c.1234T>A, NM_001348700.2:c.1108T>A, NM_001348700.1:c.1108T>A, NM_001348702.2:c.1024T>A, NM_001348702.1:c.1024T>A, NM_001348701.2:c.1108T>A, NM_001348701.1:c.1108T>A, NM_001348699.2:c.1249T>A, NM_001348699.1:c.1249T>A, NM_001348703.2:c.1024T>A, NM_001348703.1:c.1024T>A, NM_001348704.2:c.844T>A, NM_001348704.1:c.844T>A, NM_001008226.2:c.1069T>A, NM_001008226.1:c.1069T>A, NM_001348706.2:c.*806T>A, NM_001348706.1:c.*806T>A, XM_047432398.1:c.1234T>A, XP_024305670.1:p.Tyr412Asn, NP_001335629.1:p.Tyr370Asn, NP_001335631.1:p.Tyr342Asn, NP_001335630.1:p.Tyr370Asn, NP_001335628.1:p.Tyr417Asn, NP_001335632.1:p.Tyr342Asn, NP_001335633.1:p.Tyr282Asn, NP_001008227.1:p.Tyr357Asn, XP_047288354.1:p.Tyr412Asn

Select item 146165541215.

rs1461655412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:82282427 (GRCh38)
15:82574768 (GRCh37)
Canonical SPDI:: NC_000015.10:82282426:T:G
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282427T>G, NC_000015.9:g.82574768T>G, XM_024449902.2:c.727T>G, XM_024449902.1:c.727T>G, NM_001348700.2:c.601T>G, NM_001348700.1:c.601T>G, NM_001348702.2:c.517T>G, NM_001348702.1:c.517T>G, NM_001348701.2:c.601T>G, NM_001348701.1:c.601T>G, NM_001348699.2:c.742T>G, NM_001348699.1:c.742T>G, NM_001348703.2:c.517T>G, NM_001348703.1:c.517T>G, NM_001348704.2:c.337T>G, NM_001348704.1:c.337T>G, NM_001008226.2:c.562T>G, NM_001008226.1:c.562T>G, NM_001348706.2:c.*299T>G, NM_001348706.1:c.*299T>G, XM_047432398.1:c.727T>G, XP_024305670.1:p.Phe243Val, NP_001335629.1:p.Phe201Val, NP_001335631.1:p.Phe173Val, NP_001335630.1:p.Phe201Val, NP_001335628.1:p.Phe248Val, NP_001335632.1:p.Phe173Val, NP_001335633.1:p.Phe113Val, NP_001008227.1:p.Phe188Val, XP_047288354.1:p.Phe243Val

Select item 145985463916.

rs1459854639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:82282311 (GRCh38)
15:82574652 (GRCh37)
Canonical SPDI:: NC_000015.10:82282310:C:G
Gene:: SAXO2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282311C>G, NC_000015.9:g.82574652C>G, XM_024449902.2:c.611C>G, XM_024449902.1:c.611C>G, NM_001348700.2:c.485C>G, NM_001348700.1:c.485C>G, NM_001348702.2:c.401C>G, NM_001348702.1:c.401C>G, NM_001348701.2:c.485C>G, NM_001348701.1:c.485C>G, NM_001348699.2:c.626C>G, NM_001348699.1:c.626C>G, NM_001348703.2:c.401C>G, NM_001348703.1:c.401C>G, NM_001348704.2:c.221C>G, NM_001348704.1:c.221C>G, NM_001008226.2:c.446C>G, NM_001008226.1:c.446C>G, NM_001348706.2:c.*183C>G, NM_001348706.1:c.*183C>G, XM_047432398.1:c.611C>G, XP_024305670.1:p.Thr204Arg, NP_001335629.1:p.Thr162Arg, NP_001335631.1:p.Thr134Arg, NP_001335630.1:p.Thr162Arg, NP_001335628.1:p.Thr209Arg, NP_001335632.1:p.Thr134Arg, NP_001335633.1:p.Thr74Arg, NP_001008227.1:p.Thr149Arg, XP_047288354.1:p.Thr204Arg

Select item 145971234417.

rs1459712344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82282451 (GRCh38)
15:82574792 (GRCh37)
Canonical SPDI:: NC_000015.10:82282450:G:A
Gene:: SAXO2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282451G>A, NC_000015.9:g.82574792G>A, XM_024449902.2:c.751G>A, XM_024449902.1:c.751G>A, NM_001348700.2:c.625G>A, NM_001348700.1:c.625G>A, NM_001348702.2:c.541G>A, NM_001348702.1:c.541G>A, NM_001348701.2:c.625G>A, NM_001348701.1:c.625G>A, NM_001348699.2:c.766G>A, NM_001348699.1:c.766G>A, NM_001348703.2:c.541G>A, NM_001348703.1:c.541G>A, NM_001348704.2:c.361G>A, NM_001348704.1:c.361G>A, NM_001008226.2:c.586G>A, NM_001008226.1:c.586G>A, NM_001348706.2:c.*323G>A, NM_001348706.1:c.*323G>A, XM_047432398.1:c.751G>A, XP_024305670.1:p.Ala251Thr, NP_001335629.1:p.Ala209Thr, NP_001335631.1:p.Ala181Thr, NP_001335630.1:p.Ala209Thr, NP_001335628.1:p.Ala256Thr, NP_001335632.1:p.Ala181Thr, NP_001335633.1:p.Ala121Thr, NP_001008227.1:p.Ala196Thr, XP_047288354.1:p.Ala251Thr

Select item 145903266518.

rs1459032665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:82271652 (GRCh38)
15:82563993 (GRCh37)
Canonical SPDI:: NC_000015.10:82271651:G:C
Gene:: SAXO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82271652G>C, NC_000015.9:g.82563993G>C, XM_024449902.2:c.268G>C, XM_024449902.1:c.268G>C, NM_001348700.2:c.142G>C, NM_001348700.1:c.142G>C, NM_001348702.2:c.58G>C, NM_001348702.1:c.58G>C, NM_001348701.2:c.142G>C, NM_001348701.1:c.142G>C, NM_001348699.2:c.283G>C, NM_001348699.1:c.283G>C, NM_001348703.2:c.58G>C, NM_001348703.1:c.58G>C, NM_001008226.2:c.103G>C, NM_001008226.1:c.103G>C, XM_047432398.1:c.268G>C, XP_024305670.1:p.Glu90Gln, NP_001335629.1:p.Glu48Gln, NP_001335631.1:p.Glu20Gln, NP_001335630.1:p.Glu48Gln, NP_001335628.1:p.Glu95Gln, NP_001335632.1:p.Glu20Gln, NP_001008227.1:p.Glu35Gln, XP_047288354.1:p.Glu90Gln

Select item 145480289519.

rs1454802895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:82282292 (GRCh38)
15:82574633 (GRCh37)
Canonical SPDI:: NC_000015.10:82282291:G:C
Gene:: SAXO2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.82282292G>C, NC_000015.9:g.82574633G>C, XM_024449902.2:c.592G>C, XM_024449902.1:c.592G>C, NM_001348700.2:c.466G>C, NM_001348700.1:c.466G>C, NM_001348702.2:c.382G>C, NM_001348702.1:c.382G>C, NM_001348701.2:c.466G>C, NM_001348701.1:c.466G>C, NM_001348699.2:c.607G>C, NM_001348699.1:c.607G>C, NM_001348703.2:c.382G>C, NM_001348703.1:c.382G>C, NM_001348704.2:c.202G>C, NM_001348704.1:c.202G>C, NM_001008226.2:c.427G>C, NM_001008226.1:c.427G>C, NM_001348706.2:c.*164G>C, NM_001348706.1:c.*164G>C, XM_047432398.1:c.592G>C, XP_024305670.1:p.Ala198Pro, NP_001335629.1:p.Ala156Pro, NP_001335631.1:p.Ala128Pro, NP_001335630.1:p.Ala156Pro, NP_001335628.1:p.Ala203Pro, NP_001335632.1:p.Ala128Pro, NP_001335633.1:p.Ala68Pro, NP_001008227.1:p.Ala143Pro, XP_047288354.1:p.Ala198Pro

Select item 145327083520.

rs1453270835 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:82282242 (GRCh38)
15:82574584 (GRCh37)
Canonical SPDI:: NC_000015.10:82282242:AAA:AAAA
Gene:: SAXO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82282245dup, NC_000015.9:g.82574586dup, XM_024449902.2:c.545dup, XM_024449902.1:c.545dup, NM_001348700.2:c.419dup, NM_001348700.1:c.419dup, NM_001348702.2:c.335dup, NM_001348702.1:c.335dup, NM_001348701.2:c.419dup, NM_001348701.1:c.419dup, NM_001348699.2:c.560dup, NM_001348699.1:c.560dup, NM_001348703.2:c.335dup, NM_001348703.1:c.335dup, NM_001348704.2:c.155dup, NM_001348704.1:c.155dup, NM_001008226.2:c.380dup, NM_001008226.1:c.380dup, NM_001348706.2:c.*117dup, NM_001348706.1:c.*117dup, XM_047432398.1:c.545dup, XP_024305670.1:p.Pro183fs, NP_001335629.1:p.Pro141fs, NP_001335631.1:p.Pro113fs, NP_001335630.1:p.Pro141fs, NP_001335628.1:p.Pro188fs, NP_001335632.1:p.Pro113fs, NP_001335633.1:p.Pro53fs, NP_001008227.1:p.Pro128fs, XP_047288354.1:p.Pro183fs

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