SNP Links for Protein (Select 948284460) - SNP

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Links from Protein

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Select item 14830946731.

rs1483094673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:44943771 (GRCh38)
21:46363686 (GRCh37)
Canonical SPDI:: NC_000021.9:44943770:A:C
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44943771A>C, NC_000021.8:g.46363686A>C, NM_058190.4:c.217A>C, NM_058190.3:c.217A>C, NM_058190.2:c.217A>C, XM_017028481.3:c.-105A>C, XM_017028481.2:c.-105A>C, XM_017028481.1:c.-105A>C, NM_001316983.2:c.217A>C, NM_001316983.1:c.217A>C, NM_001316988.2:c.-60A>C, NM_001316988.1:c.-60A>C, NM_001316984.2:c.217A>C, NM_001316984.1:c.217A>C, NM_001316985.2:c.217A>C, NM_001316985.1:c.217A>C, NM_001316986.2:c.217A>C, NM_001316986.1:c.217A>C, NM_001316987.2:c.217A>C, NM_001316987.1:c.217A>C, NP_478070.1:p.Ser73Arg, NP_001303912.1:p.Ser73Arg, NP_001303913.1:p.Ser73Arg, NP_001303914.1:p.Ser73Arg, NP_001303915.1:p.Ser73Arg, NP_001303916.1:p.Ser73Arg

Select item 14821423282.

rs1482142328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44940159 (GRCh38)
21:46360074 (GRCh37)
Canonical SPDI:: NC_000021.9:44940158:C:G
Gene:: LINC01547 (Varview), SLX9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44940159C>G, NC_000021.8:g.46360074C>G, NM_058190.4:c.102C>G, NM_058190.3:c.102C>G, NM_058190.2:c.102C>G, NM_001316983.2:c.102C>G, NM_001316983.1:c.102C>G, NM_001316984.2:c.102C>G, NM_001316984.1:c.102C>G, NM_001316985.2:c.102C>G, NM_001316985.1:c.102C>G, NM_001316986.2:c.102C>G, NM_001316986.1:c.102C>G, NM_001316987.2:c.102C>G, NM_001316987.1:c.102C>G

Select item 14795673553.

rs1479567355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:44940184 (GRCh38)
21:46360099 (GRCh37)
Canonical SPDI:: NC_000021.9:44940183:A:T
Gene:: LINC01547 (Varview), SLX9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44940184A>T, NC_000021.8:g.46360099A>T, NM_058190.4:c.127A>T, NM_058190.3:c.127A>T, NM_058190.2:c.127A>T, NM_001316983.2:c.127A>T, NM_001316983.1:c.127A>T, NM_001316984.2:c.127A>T, NM_001316984.1:c.127A>T, NM_001316985.2:c.127A>T, NM_001316985.1:c.127A>T, NM_001316986.2:c.127A>T, NM_001316986.1:c.127A>T, NM_001316987.2:c.127A>T, NM_001316987.1:c.127A>T, NP_478070.1:p.Lys43Ter, NP_001303912.1:p.Lys43Ter, NP_001303913.1:p.Lys43Ter, NP_001303914.1:p.Lys43Ter, NP_001303915.1:p.Lys43Ter, NP_001303916.1:p.Lys43Ter

Select item 14795644444.

rs1479564444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44943787 (GRCh38)
21:46363702 (GRCh37)
Canonical SPDI:: NC_000021.9:44943786:G:T
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44943787G>T, NC_000021.8:g.46363702G>T, NM_058190.4:c.233G>T, NM_058190.3:c.233G>T, NM_058190.2:c.233G>T, XM_017028481.3:c.-89G>T, XM_017028481.2:c.-89G>T, XM_017028481.1:c.-89G>T, NM_001316983.2:c.233G>T, NM_001316983.1:c.233G>T, NM_001316988.2:c.-44G>T, NM_001316988.1:c.-44G>T, NM_001316984.2:c.233G>T, NM_001316984.1:c.233G>T, NM_001316985.2:c.233G>T, NM_001316985.1:c.233G>T, NM_001316986.2:c.233G>T, NM_001316986.1:c.233G>T, NM_001316987.2:c.233G>T, NM_001316987.1:c.233G>T, NP_478070.1:p.Arg78Met, NP_001303912.1:p.Arg78Met, NP_001303913.1:p.Arg78Met, NP_001303914.1:p.Arg78Met, NP_001303915.1:p.Arg78Met, NP_001303916.1:p.Arg78Met

Select item 14791436655.

rs1479143665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44967099 (GRCh38)
21:46387014 (GRCh37)
Canonical SPDI:: NC_000021.9:44967098:G:T
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000066/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44967099G>T, NC_000021.8:g.46387014G>T, NM_058190.4:c.418G>T, NM_058190.3:c.418G>T, NM_058190.2:c.418G>T, XM_017028481.3:c.97G>T, XM_017028481.2:c.97G>T, XM_017028481.1:c.97G>T, XM_017028482.3:c.97G>T, XM_017028482.2:c.97G>T, XM_017028482.1:c.97G>T, NM_001316983.2:c.418G>T, NM_001316983.1:c.418G>T, NM_001316988.2:c.97G>T, NM_001316988.1:c.97G>T, NM_001316984.2:c.373G>T, NM_001316984.1:c.373G>T, NM_001316985.2:c.373G>T, NM_001316985.1:c.373G>T, NM_001316986.2:c.418G>T, NM_001316986.1:c.418G>T, NM_001316987.2:c.373G>T, NM_001316987.1:c.373G>T, NP_478070.1:p.Val140Leu, XP_016883970.1:p.Val33Leu, XP_016883971.1:p.Val33Leu, NP_001303912.1:p.Val140Leu, NP_001303917.1:p.Val33Leu, NP_001303913.1:p.Val125Leu, NP_001303914.1:p.Val125Leu, NP_001303915.1:p.Val140Leu, NP_001303916.1:p.Val125Leu

Select item 14780586856.

rs1478058685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44940179 (GRCh38)
21:46360094 (GRCh37)
Canonical SPDI:: NC_000021.9:44940178:C:G,NC_000021.9:44940178:C:T
Gene:: LINC01547 (Varview), SLX9 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.44940179C>G, NC_000021.9:g.44940179C>T, NC_000021.8:g.46360094C>G, NC_000021.8:g.46360094C>T, NM_058190.4:c.122C>G, NM_058190.4:c.122C>T, NM_058190.3:c.122C>G, NM_058190.3:c.122C>T, NM_058190.2:c.122C>G, NM_058190.2:c.122C>T, NM_001316983.2:c.122C>G, NM_001316983.2:c.122C>T, NM_001316983.1:c.122C>G, NM_001316983.1:c.122C>T, NM_001316984.2:c.122C>G, NM_001316984.2:c.122C>T, NM_001316984.1:c.122C>G, NM_001316984.1:c.122C>T, NM_001316985.2:c.122C>G, NM_001316985.2:c.122C>T, NM_001316985.1:c.122C>G, NM_001316985.1:c.122C>T, NM_001316986.2:c.122C>G, NM_001316986.2:c.122C>T, NM_001316986.1:c.122C>G, NM_001316986.1:c.122C>T, NM_001316987.2:c.122C>G, NM_001316987.2:c.122C>T, NM_001316987.1:c.122C>G, NM_001316987.1:c.122C>T, NP_478070.1:p.Ala41Gly, NP_478070.1:p.Ala41Val, NP_001303912.1:p.Ala41Gly, NP_001303912.1:p.Ala41Val, NP_001303913.1:p.Ala41Gly, NP_001303913.1:p.Ala41Val, NP_001303914.1:p.Ala41Gly, NP_001303914.1:p.Ala41Val, NP_001303915.1:p.Ala41Gly, NP_001303915.1:p.Ala41Val, NP_001303916.1:p.Ala41Gly, NP_001303916.1:p.Ala41Val

Select item 14772367317.

rs1477236731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44940129 (GRCh38)
21:46360044 (GRCh37)
Canonical SPDI:: NC_000021.9:44940128:C:G
Gene:: LINC01547 (Varview), SLX9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.44940129C>G, NC_000021.8:g.46360044C>G, NM_058190.4:c.72C>G, NM_058190.3:c.72C>G, NM_058190.2:c.72C>G, NM_001316983.2:c.72C>G, NM_001316983.1:c.72C>G, NM_001316984.2:c.72C>G, NM_001316984.1:c.72C>G, NM_001316985.2:c.72C>G, NM_001316985.1:c.72C>G, NM_001316986.2:c.72C>G, NM_001316986.1:c.72C>G, NM_001316987.2:c.72C>G, NM_001316987.1:c.72C>G

Select item 14767886298.

rs1476788629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44967123 (GRCh38)
21:46387038 (GRCh37)
Canonical SPDI:: NC_000021.9:44967122:A:G
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44967123A>G, NC_000021.8:g.46387038A>G, NM_058190.4:c.442A>G, NM_058190.3:c.442A>G, NM_058190.2:c.442A>G, XM_017028481.3:c.121A>G, XM_017028481.2:c.121A>G, XM_017028481.1:c.121A>G, XM_017028482.3:c.121A>G, XM_017028482.2:c.121A>G, XM_017028482.1:c.121A>G, NM_001316983.2:c.442A>G, NM_001316983.1:c.442A>G, NM_001316988.2:c.121A>G, NM_001316988.1:c.121A>G, NM_001316984.2:c.397A>G, NM_001316984.1:c.397A>G, NM_001316985.2:c.397A>G, NM_001316985.1:c.397A>G, NM_001316986.2:c.442A>G, NM_001316986.1:c.442A>G, NM_001316987.2:c.397A>G, NM_001316987.1:c.397A>G, NP_478070.1:p.Arg148Gly, XP_016883970.1:p.Arg41Gly, XP_016883971.1:p.Arg41Gly, NP_001303912.1:p.Arg148Gly, NP_001303917.1:p.Arg41Gly, NP_001303913.1:p.Arg133Gly, NP_001303914.1:p.Arg133Gly, NP_001303915.1:p.Arg148Gly, NP_001303916.1:p.Arg133Gly

Select item 14732263079.

rs1473226307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:44967101 (GRCh38)
21:46387016 (GRCh37)
Canonical SPDI:: NC_000021.9:44967100:G:A,NC_000021.9:44967100:G:T
Gene:: SLX9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44967101G>A, NC_000021.9:g.44967101G>T, NC_000021.8:g.46387016G>A, NC_000021.8:g.46387016G>T, NM_058190.4:c.420G>A, NM_058190.4:c.420G>T, NM_058190.3:c.420G>A, NM_058190.3:c.420G>T, NM_058190.2:c.420G>A, NM_058190.2:c.420G>T, XM_017028481.3:c.99G>A, XM_017028481.3:c.99G>T, XM_017028481.2:c.99G>A, XM_017028481.2:c.99G>T, XM_017028481.1:c.99G>A, XM_017028481.1:c.99G>T, XM_017028482.3:c.99G>A, XM_017028482.3:c.99G>T, XM_017028482.2:c.99G>A, XM_017028482.2:c.99G>T, XM_017028482.1:c.99G>A, XM_017028482.1:c.99G>T, NM_001316983.2:c.420G>A, NM_001316983.2:c.420G>T, NM_001316983.1:c.420G>A, NM_001316983.1:c.420G>T, NM_001316988.2:c.99G>A, NM_001316988.2:c.99G>T, NM_001316988.1:c.99G>A, NM_001316988.1:c.99G>T, NM_001316984.2:c.375G>A, NM_001316984.2:c.375G>T, NM_001316984.1:c.375G>A, NM_001316984.1:c.375G>T, NM_001316985.2:c.375G>A, NM_001316985.2:c.375G>T, NM_001316985.1:c.375G>A, NM_001316985.1:c.375G>T, NM_001316986.2:c.420G>A, NM_001316986.2:c.420G>T, NM_001316986.1:c.420G>A, NM_001316986.1:c.420G>T, NM_001316987.2:c.375G>A, NM_001316987.2:c.375G>T, NM_001316987.1:c.375G>A, NM_001316987.1:c.375G>T

Select item 147163004510.

rs1471630045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44976797 (GRCh38)
21:46396712 (GRCh37)
Canonical SPDI:: NC_000021.9:44976796:G:A
Gene:: SLX9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44976797G>A, NC_000021.8:g.46396712G>A, NM_058190.4:c.687G>A, NM_058190.3:c.687G>A, NM_058190.2:c.687G>A, XM_017028481.3:c.366G>A, XM_017028481.2:c.366G>A, XM_017028481.1:c.366G>A, XM_017028482.3:c.366G>A, XM_017028482.2:c.366G>A, XM_017028482.1:c.366G>A, NM_001316983.2:c.684G>A, NM_001316983.1:c.684G>A, NM_001316988.2:c.363G>A, NM_001316988.1:c.363G>A, NM_001316984.2:c.642G>A, NM_001316984.1:c.642G>A, NM_001316985.2:c.639G>A, NM_001316985.1:c.639G>A, NM_001316986.2:c.618G>A, NM_001316986.1:c.618G>A, NM_001316987.2:c.573G>A, NM_001316987.1:c.573G>A

Select item 146660680011.

rs1466606800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:44976788 (GRCh38)
21:46396703 (GRCh37)
Canonical SPDI:: NC_000021.9:44976787:T:A
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44976788T>A, NC_000021.8:g.46396703T>A, NM_058190.4:c.678T>A, NM_058190.3:c.678T>A, NM_058190.2:c.678T>A, XM_017028481.3:c.357T>A, XM_017028481.2:c.357T>A, XM_017028481.1:c.357T>A, XM_017028482.3:c.357T>A, XM_017028482.2:c.357T>A, XM_017028482.1:c.357T>A, NM_001316983.2:c.675T>A, NM_001316983.1:c.675T>A, NM_001316988.2:c.354T>A, NM_001316988.1:c.354T>A, NM_001316984.2:c.633T>A, NM_001316984.1:c.633T>A, NM_001316985.2:c.630T>A, NM_001316985.1:c.630T>A, NM_001316986.2:c.609T>A, NM_001316986.1:c.609T>A, NM_001316987.2:c.564T>A, NM_001316987.1:c.564T>A, NP_478070.1:p.Asp226Glu, XP_016883970.1:p.Asp119Glu, XP_016883971.1:p.Asp119Glu, NP_001303912.1:p.Asp225Glu, NP_001303917.1:p.Asp118Glu, NP_001303913.1:p.Asp211Glu, NP_001303914.1:p.Asp210Glu, NP_001303915.1:p.Asp203Glu, NP_001303916.1:p.Asp188Glu

Select item 146557518712.

rs1465575187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44940081 (GRCh38)
21:46359996 (GRCh37)
Canonical SPDI:: NC_000021.9:44940080:C:T
Gene:: LINC01547 (Varview), SLX9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44940081C>T, NC_000021.8:g.46359996C>T, NM_058190.4:c.24C>T, NM_058190.3:c.24C>T, NM_058190.2:c.24C>T, NM_001316983.2:c.24C>T, NM_001316983.1:c.24C>T, NM_001316984.2:c.24C>T, NM_001316984.1:c.24C>T, NM_001316985.2:c.24C>T, NM_001316985.1:c.24C>T, NM_001316986.2:c.24C>T, NM_001316986.1:c.24C>T, NM_001316987.2:c.24C>T, NM_001316987.1:c.24C>T

Select item 146021898313.

rs1460218983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44973200 (GRCh38)
21:46393115 (GRCh37)
Canonical SPDI:: NC_000021.9:44973199:G:A
Gene:: SLX9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44973200G>A, NC_000021.8:g.46393115G>A, NM_058190.4:c.504G>A, NM_058190.3:c.504G>A, NM_058190.2:c.504G>A, XM_017028481.3:c.183G>A, XM_017028481.2:c.183G>A, XM_017028481.1:c.183G>A, XM_017028482.3:c.183G>A, XM_017028482.2:c.183G>A, XM_017028482.1:c.183G>A, NM_001316983.2:c.501G>A, NM_001316983.1:c.501G>A, NM_001316988.2:c.180G>A, NM_001316988.1:c.180G>A, NM_001316984.2:c.459G>A, NM_001316984.1:c.459G>A, NM_001316985.2:c.456G>A, NM_001316985.1:c.456G>A

Select item 144934730314.

rs1449347303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:44967080 (GRCh38)
21:46386995 (GRCh37)
Canonical SPDI:: NC_000021.9:44967079:G:C
Gene:: SLX9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000021.9:g.44967080G>C, NC_000021.8:g.46386995G>C, NM_058190.4:c.399G>C, NM_058190.3:c.399G>C, NM_058190.2:c.399G>C, XM_017028481.3:c.78G>C, XM_017028481.2:c.78G>C, XM_017028481.1:c.78G>C, XM_017028482.3:c.78G>C, XM_017028482.2:c.78G>C, XM_017028482.1:c.78G>C, NM_001316983.2:c.399G>C, NM_001316983.1:c.399G>C, NM_001316988.2:c.78G>C, NM_001316988.1:c.78G>C, NM_001316984.2:c.354G>C, NM_001316984.1:c.354G>C, NM_001316985.2:c.354G>C, NM_001316985.1:c.354G>C, NM_001316986.2:c.399G>C, NM_001316986.1:c.399G>C, NM_001316987.2:c.354G>C, NM_001316987.1:c.354G>C

Select item 144636727415.

rs1446367274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44976681 (GRCh38)
21:46396596 (GRCh37)
Canonical SPDI:: NC_000021.9:44976680:G:A
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00002/4 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44976681G>A, NC_000021.8:g.46396596G>A, NM_058190.4:c.571G>A, NM_058190.3:c.571G>A, NM_058190.2:c.571G>A, XM_017028481.3:c.250G>A, XM_017028481.2:c.250G>A, XM_017028481.1:c.250G>A, XM_017028482.3:c.250G>A, XM_017028482.2:c.250G>A, XM_017028482.1:c.250G>A, NM_001316983.2:c.568G>A, NM_001316983.1:c.568G>A, NM_001316988.2:c.247G>A, NM_001316988.1:c.247G>A, NM_001316984.2:c.526G>A, NM_001316984.1:c.526G>A, NM_001316985.2:c.523G>A, NM_001316985.1:c.523G>A, NM_001316986.2:c.502G>A, NM_001316986.1:c.502G>A, NM_001316987.2:c.457G>A, NM_001316987.1:c.457G>A, NP_478070.1:p.Glu191Lys, XP_016883970.1:p.Glu84Lys, XP_016883971.1:p.Glu84Lys, NP_001303912.1:p.Glu190Lys, NP_001303917.1:p.Glu83Lys, NP_001303913.1:p.Glu176Lys, NP_001303914.1:p.Glu175Lys, NP_001303915.1:p.Glu168Lys, NP_001303916.1:p.Glu153Lys

Select item 144542967216.

rs1445429672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44976691 (GRCh38)
21:46396606 (GRCh37)
Canonical SPDI:: NC_000021.9:44976690:G:A
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44976691G>A, NC_000021.8:g.46396606G>A, NM_058190.4:c.581G>A, NM_058190.3:c.581G>A, NM_058190.2:c.581G>A, XM_017028481.3:c.260G>A, XM_017028481.2:c.260G>A, XM_017028481.1:c.260G>A, XM_017028482.3:c.260G>A, XM_017028482.2:c.260G>A, XM_017028482.1:c.260G>A, NM_001316983.2:c.578G>A, NM_001316983.1:c.578G>A, NM_001316988.2:c.257G>A, NM_001316988.1:c.257G>A, NM_001316984.2:c.536G>A, NM_001316984.1:c.536G>A, NM_001316985.2:c.533G>A, NM_001316985.1:c.533G>A, NM_001316986.2:c.512G>A, NM_001316986.1:c.512G>A, NM_001316987.2:c.467G>A, NM_001316987.1:c.467G>A, NP_478070.1:p.Arg194Lys, XP_016883970.1:p.Arg87Lys, XP_016883971.1:p.Arg87Lys, NP_001303912.1:p.Arg193Lys, NP_001303917.1:p.Arg86Lys, NP_001303913.1:p.Arg179Lys, NP_001303914.1:p.Arg178Lys, NP_001303915.1:p.Arg171Lys, NP_001303916.1:p.Arg156Lys

Select item 144202166917.

rs1442021669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44967158 (GRCh38)
21:46387073 (GRCh37)
Canonical SPDI:: NC_000021.9:44967157:T:C
Gene:: SLX9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44967158T>C, NC_000021.8:g.46387073T>C, NM_058190.4:c.477T>C, NM_058190.3:c.477T>C, NM_058190.2:c.477T>C, XM_017028481.3:c.156T>C, XM_017028481.2:c.156T>C, XM_017028481.1:c.156T>C, XM_017028482.3:c.156T>C, XM_017028482.2:c.156T>C, XM_017028482.1:c.156T>C, NM_001316983.2:c.477T>C, NM_001316983.1:c.477T>C, NM_001316988.2:c.156T>C, NM_001316988.1:c.156T>C, NM_001316984.2:c.432T>C, NM_001316984.1:c.432T>C, NM_001316985.2:c.432T>C, NM_001316985.1:c.432T>C, NM_001316986.2:c.477T>C, NM_001316986.1:c.477T>C, NM_001316987.2:c.432T>C, NM_001316987.1:c.432T>C

Select item 144189786818.

rs1441897868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44960124 (GRCh38)
21:46380039 (GRCh37)
Canonical SPDI:: NC_000021.9:44960123:C:G
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.44960124C>G, NC_000021.8:g.46380039C>G, NM_058190.4:c.308C>G, NM_058190.3:c.308C>G, NM_058190.2:c.308C>G, XM_017028481.3:c.-14C>G, XM_017028481.2:c.-14C>G, XM_017028481.1:c.-14C>G, XM_017028482.3:c.-14C>G, XM_017028482.2:c.-14C>G, XM_017028482.1:c.-14C>G, NM_001316983.2:c.308C>G, NM_001316983.1:c.308C>G, NM_001316988.2:c.-14C>G, NM_001316988.1:c.-14C>G, NM_001316984.2:c.263C>G, NM_001316984.1:c.263C>G, NM_001316985.2:c.263C>G, NM_001316985.1:c.263C>G, NM_001316986.2:c.308C>G, NM_001316986.1:c.308C>G, NM_001316987.2:c.263C>G, NM_001316987.1:c.263C>G, NP_478070.1:p.Pro103Arg, NP_001303912.1:p.Pro103Arg, NP_001303913.1:p.Pro88Arg, NP_001303914.1:p.Pro88Arg, NP_001303915.1:p.Pro103Arg, NP_001303916.1:p.Pro88Arg

Select item 144147406719.

rs1441474067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44943706 (GRCh38)
21:46363621 (GRCh37)
Canonical SPDI:: NC_000021.9:44943705:A:G
Gene:: SLX9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44943706A>G, NC_000021.8:g.46363621A>G, NM_058190.4:c.152A>G, NM_058190.3:c.152A>G, NM_058190.2:c.152A>G, XM_017028481.3:c.-170A>G, XM_017028481.2:c.-170A>G, XM_017028481.1:c.-170A>G, NM_001316983.2:c.152A>G, NM_001316983.1:c.152A>G, NM_001316988.2:c.-125A>G, NM_001316988.1:c.-125A>G, NM_001316984.2:c.152A>G, NM_001316984.1:c.152A>G, NM_001316985.2:c.152A>G, NM_001316985.1:c.152A>G, NM_001316986.2:c.152A>G, NM_001316986.1:c.152A>G, NM_001316987.2:c.152A>G, NM_001316987.1:c.152A>G, NP_478070.1:p.Asn51Ser, NP_001303912.1:p.Asn51Ser, NP_001303913.1:p.Asn51Ser, NP_001303914.1:p.Asn51Ser, NP_001303915.1:p.Asn51Ser, NP_001303916.1:p.Asn51Ser

Select item 143804122720.

rs1438041227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44973255 (GRCh38)
21:46393170 (GRCh37)
Canonical SPDI:: NC_000021.9:44973254:C:T
Gene:: SLX9 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44973255C>T, NC_000021.8:g.46393170C>T, NM_058190.4:c.559C>T, NM_058190.3:c.559C>T, NM_058190.2:c.559C>T, XM_017028481.3:c.238C>T, XM_017028481.2:c.238C>T, XM_017028481.1:c.238C>T, XM_017028482.3:c.238C>T, XM_017028482.2:c.238C>T, XM_017028482.1:c.238C>T, NM_001316983.2:c.556C>T, NM_001316983.1:c.556C>T, NM_001316988.2:c.235C>T, NM_001316988.1:c.235C>T, NM_001316984.2:c.514C>T, NM_001316984.1:c.514C>T, NM_001316985.2:c.511C>T, NM_001316985.1:c.511C>T, NP_478070.1:p.Gln187Ter, XP_016883970.1:p.Gln80Ter, XP_016883971.1:p.Gln80Ter, NP_001303912.1:p.Gln186Ter, NP_001303917.1:p.Gln79Ter, NP_001303913.1:p.Gln172Ter, NP_001303914.1:p.Gln171Ter

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