SNP Links for Protein (Select 733605735) - SNP

Links from Protein

Items: 1 to 20 of 106

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Select item 14820622301.

rs1482062230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:13229664 (GRCh38)
10:13271664 (GRCh37)
Canonical SPDI:: NC_000010.11:13229663:T:C
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.13229664T>C, NC_000010.10:g.13271664T>C, NM_145314.3:c.266A>G, NM_145314.2:c.266A>G, NM_145314.1:c.266A>G, NM_001303118.2:c.170A>G, NM_001303118.1:c.170A>G, NM_001303119.2:c.104A>G, NM_001303119.1:c.104A>G, NP_660357.2:p.Tyr89Cys, NP_001290047.1:p.Tyr57Cys, NP_001290048.1:p.Tyr35Cys

Select item 14735239242.

rs1473523924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:13222175 (GRCh38)
10:13264175 (GRCh37)
Canonical SPDI:: NC_000010.11:13222174:A:G
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13222175A>G, NC_000010.10:g.13264175A>G, NM_145314.3:c.345T>C, NM_145314.2:c.345T>C, NM_145314.1:c.345T>C, NM_001303118.2:c.249T>C, NM_001303118.1:c.249T>C, NM_001303119.2:c.183T>C, NM_001303119.1:c.183T>C

Select item 14641521653.

rs1464152165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:13234206 (GRCh38)
10:13276206 (GRCh37)
Canonical SPDI:: NC_000010.11:13234205:A:G
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_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=0.000007/1 (GnomAD)
G=0.000708/12 (TOMMO)
HGVS:: NC_000010.11:g.13234206A>G, NC_000010.10:g.13276206A>G, NM_145314.3:c.53T>C, NM_145314.2:c.53T>C, NM_145314.1:c.53T>C, NM_001303118.2:c.53T>C, NM_001303118.1:c.53T>C, NM_001303119.2:c.53T>C, NM_001303119.1:c.53T>C, NP_660357.2:p.Leu18Pro, NP_001290047.1:p.Leu18Pro, NP_001290048.1:p.Leu18Pro

Select item 14570806864.

rs1457080686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:13229679 (GRCh38)
10:13271679 (GRCh37)
Canonical SPDI:: NC_000010.11:13229678:T:G
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13229679T>G, NC_000010.10:g.13271679T>G, NM_145314.3:c.251A>C, NM_145314.2:c.251A>C, NM_145314.1:c.251A>C, NM_001303118.2:c.155A>C, NM_001303118.1:c.155A>C, NM_001303119.2:c.89A>C, NM_001303119.1:c.89A>C, NP_660357.2:p.Glu84Ala, NP_001290047.1:p.Glu52Ala, NP_001290048.1:p.Glu30Ala

Select item 14487396665.

rs1448739666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:13222150 (GRCh38)
10:13264150 (GRCh37)
Canonical SPDI:: NC_000010.11:13222149:A:G
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.13222150A>G, NC_000010.10:g.13264150A>G, NM_145314.3:c.370T>C, NM_145314.2:c.370T>C, NM_145314.1:c.370T>C, NM_001303118.2:c.274T>C, NM_001303118.1:c.274T>C, NM_001303119.2:c.208T>C, NM_001303119.1:c.208T>C, NP_660357.2:p.Tyr124His, NP_001290047.1:p.Tyr92His, NP_001290048.1:p.Tyr70His

Select item 14475124046.

rs1447512404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:13229638 (GRCh38)
10:13271638 (GRCh37)
Canonical SPDI:: NC_000010.11:13229637:C:A
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.13229638C>A, NC_000010.10:g.13271638C>A, NM_145314.3:c.292G>T, NM_145314.2:c.292G>T, NM_145314.1:c.292G>T, NM_001303118.2:c.196G>T, NM_001303118.1:c.196G>T, NM_001303119.2:c.130G>T, NM_001303119.1:c.130G>T, NP_660357.2:p.Glu98Ter, NP_001290047.1:p.Glu66Ter, NP_001290048.1:p.Glu44Ter

Select item 14460889457.

rs1446088945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:13229687 (GRCh38)
10:13271687 (GRCh37)
Canonical SPDI:: NC_000010.11:13229686:C:A
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.13229687C>A, NC_000010.10:g.13271687C>A, NM_145314.3:c.243G>T, NM_145314.2:c.243G>T, NM_145314.1:c.243G>T, NM_001303118.2:c.147G>T, NM_001303118.1:c.147G>T, NM_001303119.2:c.81G>T, NM_001303119.1:c.81G>T

Select item 14387190248.

rs1438719024 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACGAAGTTCTCAAATTCATTCCTTTGTTCCTC>- [Show Flanks]
Chromosome:: 10:13229627 (GRCh38)
10:13271627 (GRCh37)
Canonical SPDI:: NC_000010.11:13229616:TTTGTTCCTCCACGAAGTTCTCAAATTCATTCCTTTGTTCCTC:TTTGTTCCTC
Gene:: UCMA (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTCCTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.13229627_13229659del, NC_000010.10:g.13271627_13271659del, NM_145314.3:c.281_313del, NM_145314.2:c.281_313del, NM_145314.1:c.281_313del, NM_001303118.2:c.185_217del, NM_001303118.1:c.185_217del, NM_001303119.2:c.119_151del, NM_001303119.1:c.119_151del, NP_660357.2:p.Arg94_Gln104del, NP_001290047.1:p.Arg62_Gln72del, NP_001290048.1:p.Arg40_Gln50del

Select item 14273318959.

rs1427331895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:13229675 (GRCh38)
10:13271675 (GRCh37)
Canonical SPDI:: NC_000010.11:13229674:C:A,NC_000010.11:13229674:C:T
Gene:: UCMA (Varview)
Functional Consequence:: synonymous_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_000010.11:g.13229675C>A, NC_000010.11:g.13229675C>T, NC_000010.10:g.13271675C>A, NC_000010.10:g.13271675C>T, NM_145314.3:c.255G>T, NM_145314.3:c.255G>A, NM_145314.2:c.255G>T, NM_145314.2:c.255G>A, NM_145314.1:c.255G>T, NM_145314.1:c.255G>A, NM_001303118.2:c.159G>T, NM_001303118.2:c.159G>A, NM_001303118.1:c.159G>T, NM_001303118.1:c.159G>A, NM_001303119.2:c.93G>T, NM_001303119.2:c.93G>A, NM_001303119.1:c.93G>T, NM_001303119.1:c.93G>A

Select item 141665106110.

rs1416651061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:13229700 (GRCh38)
10:13271700 (GRCh37)
Canonical SPDI:: NC_000010.11:13229699:C:A,NC_000010.11:13229699:C:G
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.13229700C>A, NC_000010.11:g.13229700C>G, NC_000010.10:g.13271700C>A, NC_000010.10:g.13271700C>G, NM_145314.3:c.230G>T, NM_145314.3:c.230G>C, NM_145314.2:c.230G>T, NM_145314.2:c.230G>C, NM_145314.1:c.230G>T, NM_145314.1:c.230G>C, NM_001303118.2:c.134G>T, NM_001303118.2:c.134G>C, NM_001303118.1:c.134G>T, NM_001303118.1:c.134G>C, NM_001303119.2:c.68G>T, NM_001303119.2:c.68G>C, NM_001303119.1:c.68G>T, NM_001303119.1:c.68G>C, NP_660357.2:p.Arg77Met, NP_660357.2:p.Arg77Thr, NP_001290047.1:p.Arg45Met, NP_001290047.1:p.Arg45Thr, NP_001290048.1:p.Arg23Met, NP_001290048.1:p.Arg23Thr

Select item 140863372511.

rs1408633725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:13222151 (GRCh38)
10:13264151 (GRCh37)
Canonical SPDI:: NC_000010.11:13222150:G:C,NC_000010.11:13222150:G:T
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.13222151G>C, NC_000010.11:g.13222151G>T, NC_000010.10:g.13264151G>C, NC_000010.10:g.13264151G>T, NM_145314.3:c.369C>G, NM_145314.3:c.369C>A, NM_145314.2:c.369C>G, NM_145314.2:c.369C>A, NM_145314.1:c.369C>G, NM_145314.1:c.369C>A, NM_001303118.2:c.273C>G, NM_001303118.2:c.273C>A, NM_001303118.1:c.273C>G, NM_001303118.1:c.273C>A, NM_001303119.2:c.207C>G, NM_001303119.2:c.207C>A, NM_001303119.1:c.207C>G, NM_001303119.1:c.207C>A, NP_660357.2:p.His123Gln, NP_660357.2:p.His123Gln, NP_001290047.1:p.His91Gln, NP_001290047.1:p.His91Gln, NP_001290048.1:p.His69Gln, NP_001290048.1:p.His69Gln

Select item 140112841512.

rs1401128415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:13222142 (GRCh38)
10:13264142 (GRCh37)
Canonical SPDI:: NC_000010.11:13222141:G:A
Gene:: UCMA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.13222142G>A, NC_000010.10:g.13264142G>A, NM_145314.3:c.378C>T, NM_145314.2:c.378C>T, NM_145314.1:c.378C>T, NM_001303118.2:c.282C>T, NM_001303118.1:c.282C>T, NM_001303119.2:c.216C>T, NM_001303119.1:c.216C>T

Select item 139158117913.

rs1391581179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:13229611 (GRCh38)
10:13271611 (GRCh37)
Canonical SPDI:: NC_000010.11:13229610:C:T
Gene:: UCMA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13229611C>T, NC_000010.10:g.13271611C>T, NM_145314.3:c.319G>A, NM_145314.2:c.319G>A, NM_145314.1:c.319G>A, NM_001303118.2:c.223G>A, NM_001303118.1:c.223G>A, NM_001303119.2:c.157G>A, NM_001303119.1:c.157G>A, NP_660357.2:p.Glu107Lys, NP_001290047.1:p.Glu75Lys, NP_001290048.1:p.Glu53Lys

Select item 138864461814.

rs1388644618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:13229699 (GRCh38)
10:13271699 (GRCh37)
Canonical SPDI:: NC_000010.11:13229698:C:A
Gene:: UCMA (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=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.13229699C>A, NC_000010.10:g.13271699C>A, NM_145314.3:c.231G>T, NM_145314.2:c.231G>T, NM_145314.1:c.231G>T, NM_001303118.2:c.135G>T, NM_001303118.1:c.135G>T, NM_001303119.2:c.69G>T, NM_001303119.1:c.69G>T, NP_660357.2:p.Arg77Ser, NP_001290047.1:p.Arg45Ser, NP_001290048.1:p.Arg23Ser

Select item 138691933315.

rs1386919333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:13229621 (GRCh38)
10:13271621 (GRCh37)
Canonical SPDI:: NC_000010.11:13229620:T:C
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.13229621T>C, NC_000010.10:g.13271621T>C, NM_145314.3:c.309A>G, NM_145314.2:c.309A>G, NM_145314.1:c.309A>G, NM_001303118.2:c.213A>G, NM_001303118.1:c.213A>G, NM_001303119.2:c.147A>G, NM_001303119.1:c.147A>G

Select item 137240338916.

rs1372403389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:13222114 (GRCh38)
10:13264114 (GRCh37)
Canonical SPDI:: NC_000010.11:13222113:G:A
Gene:: UCMA (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_000010.11:g.13222114G>A, NC_000010.10:g.13264114G>A, NM_145314.3:c.406C>T, NM_145314.2:c.406C>T, NM_145314.1:c.406C>T, NM_001303118.2:c.310C>T, NM_001303118.1:c.310C>T, NM_001303119.2:c.244C>T, NM_001303119.1:c.244C>T, NP_660357.2:p.His136Tyr, NP_001290047.1:p.His104Tyr, NP_001290048.1:p.His82Tyr

Select item 135598985617.

rs1355989856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:13234242 (GRCh38)
10:13276242 (GRCh37)
Canonical SPDI:: NC_000010.11:13234241:G:T
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.13234242G>T, NC_000010.10:g.13276242G>T, NM_145314.3:c.17C>A, NM_145314.2:c.17C>A, NM_145314.1:c.17C>A, NM_001303118.2:c.17C>A, NM_001303118.1:c.17C>A, NM_001303119.2:c.17C>A, NM_001303119.1:c.17C>A, NP_660357.2:p.Ala6Asp, NP_001290047.1:p.Ala6Asp, NP_001290048.1:p.Ala6Asp

Select item 134723534818.

rs1347235348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:13229685 (GRCh38)
10:13271685 (GRCh37)
Canonical SPDI:: NC_000010.11:13229684:A:C,NC_000010.11:13229684:A:G,NC_000010.11:13229684:A:T
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.13229685A>C, NC_000010.11:g.13229685A>G, NC_000010.11:g.13229685A>T, NC_000010.10:g.13271685A>C, NC_000010.10:g.13271685A>G, NC_000010.10:g.13271685A>T, NM_145314.3:c.245T>G, NM_145314.3:c.245T>C, NM_145314.3:c.245T>A, NM_145314.2:c.245T>G, NM_145314.2:c.245T>C, NM_145314.2:c.245T>A, NM_145314.1:c.245T>G, NM_145314.1:c.245T>C, NM_145314.1:c.245T>A, NM_001303118.2:c.149T>G, NM_001303118.2:c.149T>C, NM_001303118.2:c.149T>A, NM_001303118.1:c.149T>G, NM_001303118.1:c.149T>C, NM_001303118.1:c.149T>A, NM_001303119.2:c.83T>G, NM_001303119.2:c.83T>C, NM_001303119.2:c.83T>A, NM_001303119.1:c.83T>G, NM_001303119.1:c.83T>C, NM_001303119.1:c.83T>A, NP_660357.2:p.Val82Gly, NP_660357.2:p.Val82Ala, NP_660357.2:p.Val82Asp, NP_001290047.1:p.Val50Gly, NP_001290047.1:p.Val50Ala, NP_001290047.1:p.Val50Asp, NP_001290048.1:p.Val28Gly, NP_001290048.1:p.Val28Ala, NP_001290048.1:p.Val28Asp

Select item 134251242319.

rs1342512423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:13229678 (GRCh38)
10:13271678 (GRCh37)
Canonical SPDI:: NC_000010.11:13229677:C:G
Gene:: UCMA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000025/3 (ExAC)
HGVS:: NC_000010.11:g.13229678C>G, NC_000010.10:g.13271678C>G, NM_145314.3:c.252G>C, NM_145314.2:c.252G>C, NM_145314.1:c.252G>C, NM_001303118.2:c.156G>C, NM_001303118.1:c.156G>C, NM_001303119.2:c.90G>C, NM_001303119.1:c.90G>C, NP_660357.2:p.Glu84Asp, NP_001290047.1:p.Glu52Asp, NP_001290048.1:p.Glu30Asp

Select item 131605023720.

rs1316050237 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:13234251 (GRCh38)
10:13276252 (GRCh37)
Canonical SPDI:: NC_000010.11:13234251:AA:AAA
Gene:: UCMA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000010.11:g.13234253dup, NC_000010.10:g.13276253dup, NM_145314.3:c.7dup, NM_145314.2:c.7dup, NM_145314.1:c.7dup, NM_001303118.2:c.7dup, NM_001303118.1:c.7dup, NM_001303119.2:c.7dup, NM_001303119.1:c.7dup, NP_660357.2:p.Trp3fs, NP_001290047.1:p.Trp3fs, NP_001290048.1:p.Trp3fs

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