SNP Links for Protein (Select 14149904) - SNP

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:69245289 (GRCh38)
2:69472421 (GRCh37)
Canonical SPDI:: NC_000002.12:69245288:C:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.69245289C>A, NC_000002.11:g.69472421C>A, NG_012649.1:g.237146C>A, NM_032208.3:c.1499C>A, NM_032208.2:c.1499C>A, NP_115584.1:p.Ala500Asp

Select item 14835830296.

rs1483583029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69070689 (GRCh38)
2:69297821 (GRCh37)
Canonical SPDI:: NC_000002.12:69070688:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.69070689G>A, NC_000002.11:g.69297821G>A, NG_012649.1:g.62546G>A, NM_032208.3:c.339G>A, NM_032208.2:c.339G>A, NM_018153.3:c.339G>A, NM_053034.2:c.339G>A, NM_001410840.1:c.339G>A, XM_017005076.3:c.339G>A, XM_017005076.2:c.339G>A, XM_017005076.1:c.339G>A, XM_017005075.3:c.339G>A, XM_017005077.3:c.339G>A, XM_017005077.2:c.339G>A, XM_017005077.1:c.339G>A

Select item 14800272547.

rs1480027254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69073097 (GRCh38)
2:69300229 (GRCh37)
Canonical SPDI:: NC_000002.12:69073096:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69073097G>A, NC_000002.11:g.69300229G>A, NG_012649.1:g.64954G>A, NM_032208.3:c.488G>A, NM_032208.2:c.488G>A, NM_018153.3:c.488G>A, NM_053034.2:c.488G>A, NM_001410840.1:c.488G>A, XM_017005076.3:c.488G>A, XM_017005076.2:c.488G>A, XM_017005076.1:c.488G>A, XM_017005075.3:c.488G>A, XM_017005077.3:c.488G>A, XM_017005077.2:c.488G>A, XM_017005077.1:c.488G>A, NP_115584.1:p.Arg163Lys, NP_060623.2:p.Arg163Lys, NP_444262.1:p.Arg163Lys, XP_016860565.1:p.Arg163Lys, XP_016860564.1:p.Arg163Lys, XP_016860566.1:p.Arg163Lys

Select item 14743118498.

rs1474311849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69182557 (GRCh38)
2:69409689 (GRCh37)
Canonical SPDI:: NC_000002.12:69182556:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.69182557G>A, NC_000002.11:g.69409689G>A, NG_012649.1:g.174414G>A, NM_032208.3:c.1250G>A, NM_032208.2:c.1250G>A, NP_115584.1:p.Arg417Lys

Select item 14742805459.

rs1474280545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69245396 (GRCh38)
2:69472528 (GRCh37)
Canonical SPDI:: NC_000002.12:69245395:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00014/2 (TOMMO)
HGVS:: NC_000002.12:g.69245396C>T, NC_000002.11:g.69472528C>T, NG_012649.1:g.237253C>T, NM_032208.3:c.1606C>T, NM_032208.2:c.1606C>T, NP_115584.1:p.Pro536Ser

Select item 147267765110.

rs1472677651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69193396 (GRCh38)
2:69420528 (GRCh37)
Canonical SPDI:: NC_000002.12:69193395:G:A
Gene:: ANTXR1 (Varview), LOC124906019 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.69193396G>A, NC_000002.11:g.69420528G>A, NG_012649.1:g.185253G>A, NM_032208.3:c.1415G>A, NM_032208.2:c.1415G>A, NP_115584.1:p.Arg472His

Select item 147234716211.

rs1472347162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69245353 (GRCh38)
2:69472485 (GRCh37)
Canonical SPDI:: NC_000002.12:69245352:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000027/4 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.69245353C>T, NC_000002.11:g.69472485C>T, NG_012649.1:g.237210C>T, NM_032208.3:c.1563C>T, NM_032208.2:c.1563C>T

Select item 146935589912.

rs1469355899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69013565 (GRCh38)
2:69240697 (GRCh37)
Canonical SPDI:: NC_000002.12:69013564:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.69013565G>A, NC_000002.11:g.69240697G>A, NG_012649.1:g.5422G>A, NM_032208.3:c.66G>A, NM_032208.2:c.66G>A, NM_018153.3:c.66G>A, NM_053034.2:c.66G>A, NM_001410840.1:c.66G>A, XM_017005076.3:c.66G>A, XM_017005076.2:c.66G>A, XM_017005076.1:c.66G>A, XM_017005075.3:c.66G>A, XM_017005077.3:c.66G>A, XM_017005077.2:c.66G>A, XM_017005077.1:c.66G>A

Select item 146806724713.

rs1468067247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:69170272 (GRCh38)
2:69397404 (GRCh37)
Canonical SPDI:: NC_000002.12:69170271:C:A,NC_000002.12:69170271:C:G,NC_000002.12:69170271:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69170272C>A, NC_000002.12:g.69170272C>G, NC_000002.12:g.69170272C>T, NC_000002.11:g.69397404C>A, NC_000002.11:g.69397404C>G, NC_000002.11:g.69397404C>T, NG_012649.1:g.162129C>A, NG_012649.1:g.162129C>G, NG_012649.1:g.162129C>T, NM_032208.3:c.1072C>A, NM_032208.3:c.1072C>G, NM_032208.3:c.1072C>T, NM_032208.2:c.1072C>A, NM_032208.2:c.1072C>G, NM_032208.2:c.1072C>T, NM_053034.2:c.1072C>A, NM_053034.2:c.1072C>G, NM_053034.2:c.1072C>T, NP_115584.1:p.Pro358Thr, NP_115584.1:p.Pro358Ala, NP_115584.1:p.Pro358Ser, NP_444262.1:p.Pro358Thr, NP_444262.1:p.Pro358Ala, NP_444262.1:p.Pro358Ser

Select item 146724396514.

rs1467243965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69090886 (GRCh38)
2:69318018 (GRCh37)
Canonical SPDI:: NC_000002.12:69090885:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.69090886C>T, NC_000002.11:g.69318018C>T, NG_012649.1:g.82743C>T, NM_032208.3:c.670C>T, NM_032208.2:c.670C>T, NM_018153.3:c.670C>T, NM_053034.2:c.670C>T, NM_001410840.1:c.670C>T, XM_017005076.3:c.670C>T, XM_017005076.2:c.670C>T, XM_017005076.1:c.670C>T, XM_017005075.3:c.670C>T, XM_017005077.3:c.670C>T, XM_017005077.2:c.670C>T, XM_017005077.1:c.670C>T

Select item 146175201415.

rs1461752014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69090913 (GRCh38)
2:69318045 (GRCh37)
Canonical SPDI:: NC_000002.12:69090912:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69090913G>A, NC_000002.11:g.69318045G>A, NG_012649.1:g.82770G>A, NM_032208.3:c.697G>A, NM_032208.2:c.697G>A, NM_018153.3:c.697G>A, NM_053034.2:c.697G>A, NM_001410840.1:c.697G>A, XM_017005076.3:c.697G>A, XM_017005076.2:c.697G>A, XM_017005076.1:c.697G>A, XM_017005075.3:c.697G>A, XM_017005077.3:c.697G>A, XM_017005077.2:c.697G>A, XM_017005077.1:c.697G>A, NP_115584.1:p.Ala233Thr, NP_060623.2:p.Ala233Thr, NP_444262.1:p.Ala233Thr, XP_016860565.1:p.Ala233Thr, XP_016860564.1:p.Ala233Thr, XP_016860566.1:p.Ala233Thr

Select item 146114196016.

rs1461141960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69152186 (GRCh38)
2:69379318 (GRCh37)
Canonical SPDI:: NC_000002.12:69152185:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000002.12:g.69152186G>A, NC_000002.11:g.69379318G>A, NG_012649.1:g.144043G>A, NM_032208.3:c.969G>A, NM_032208.2:c.969G>A, NM_053034.2:c.969G>A

Select item 146038245517.

rs1460382455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69245367 (GRCh38)
2:69472499 (GRCh37)
Canonical SPDI:: NC_000002.12:69245366:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.69245367C>T, NC_000002.11:g.69472499C>T, NG_012649.1:g.237224C>T, NM_032208.3:c.1577C>T, NM_032208.2:c.1577C>T, NP_115584.1:p.Pro526Leu

Select item 145916193518.

rs1459161935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69152247 (GRCh38)
2:69379379 (GRCh37)
Canonical SPDI:: NC_000002.12:69152246:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.69152247C>T, NC_000002.11:g.69379379C>T, NG_012649.1:g.144104C>T, NM_032208.3:c.1030C>T, NM_032208.2:c.1030C>T, NM_053034.2:c.1030C>T, NP_115584.1:p.Pro344Ser, NP_444262.1:p.Pro344Ser

Select item 145715197719.

rs1457151977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:69124567 (GRCh38)
2:69351699 (GRCh37)
Canonical SPDI:: NC_000002.12:69124566:A:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.69124567A>T, NC_000002.11:g.69351699A>T, NG_012649.1:g.116424A>T, NM_032208.3:c.875A>T, NM_032208.2:c.875A>T, NM_018153.3:c.875A>T, NM_053034.2:c.875A>T, NM_001410840.1:c.875A>T, XM_017005076.3:c.875A>T, XM_017005076.2:c.875A>T, XM_017005076.1:c.875A>T, XM_017005075.3:c.875A>T, XM_017005077.3:c.875A>T, XM_017005077.2:c.875A>T, XM_017005077.1:c.875A>T, NP_115584.1:p.Lys292Ile, NP_060623.2:p.Lys292Ile, NP_444262.1:p.Lys292Ile, XP_016860565.1:p.Lys292Ile, XP_016860564.1:p.Lys292Ile, XP_016860566.1:p.Lys292Ile

Select item 145706996120.

rs1457069961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:69070679 (GRCh38)
2:69297811 (GRCh37)
Canonical SPDI:: NC_000002.12:69070678:A:G
Gene:: ANTXR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.69070679A>G, NC_000002.11:g.69297811A>G, NG_012649.1:g.62536A>G, NM_032208.3:c.329A>G, NM_032208.2:c.329A>G, NM_018153.3:c.329A>G, NM_053034.2:c.329A>G, NM_001410840.1:c.329A>G, XM_017005076.3:c.329A>G, XM_017005076.2:c.329A>G, XM_017005076.1:c.329A>G, XM_017005075.3:c.329A>G, XM_017005077.3:c.329A>G, XM_017005077.2:c.329A>G, XM_017005077.1:c.329A>G, NP_115584.1:p.Gln110Arg, NP_060623.2:p.Gln110Arg, NP_444262.1:p.Gln110Arg, XP_016860565.1:p.Gln110Arg, XP_016860564.1:p.Gln110Arg, XP_016860566.1:p.Gln110Arg

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