SNP Links for Protein (Select 767922370) - SNP

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Links from Protein

Items: 1 to 20 of 196

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Select item 14884415351.

rs1488441535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:68733131 (GRCh38)
3:68782282 (GRCh37)
Canonical SPDI:: NC_000003.12:68733130:C:G
Gene:: TAFA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
HGVS:: NC_000003.12:g.68733131C>G, NC_000003.11:g.68782282C>G, NM_182522.5:c.*11G>C, NM_182522.4:c.*11G>C, NM_001005527.3:c.*11G>C, NM_001005527.2:c.*11G>C, XM_011533371.2:c.393G>C, XM_011533371.1:c.393G>C, XM_011533372.2:c.393G>C, XM_011533372.1:c.393G>C, XP_011531673.1:p.Glu131Asp, XP_011531674.1:p.Glu131Asp

Select item 14874934632.

rs1487493463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:68739197 (GRCh38)
3:68788348 (GRCh37)
Canonical SPDI:: NC_000003.12:68739196:A:T
Gene:: TAFA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.68739197A>T, NC_000003.11:g.68788348A>T, NM_182522.5:c.289T>A, NM_182522.4:c.289T>A, NM_001005527.3:c.289T>A, NM_001005527.2:c.289T>A, XM_011533371.2:c.289T>A, XM_011533371.1:c.289T>A, XM_011533372.2:c.289T>A, XM_011533372.1:c.289T>A, NP_872328.1:p.Ser97Thr, NP_001005527.1:p.Ser97Thr, XP_011531673.1:p.Ser97Thr, XP_011531674.1:p.Ser97Thr

Select item 14791668803.

rs1479166880 [Homo sapiens]

Variant type:: DEL
Alleles:: CAT>- [Show Flanks]
Chromosome:: 3:68739178 (GRCh38)
3:68788329 (GRCh37)
Canonical SPDI:: NC_000003.12:68739177:CAT:
Gene:: TAFA4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.68739178_68739180del, NC_000003.11:g.68788329_68788331del, NM_182522.5:c.306_308del, NM_182522.4:c.306_308del, NM_001005527.3:c.306_308del, NM_001005527.2:c.306_308del, XM_011533371.2:c.306_308del, XM_011533371.1:c.306_308del, XM_011533372.2:c.306_308del, XM_011533372.1:c.306_308del, NP_872328.1:p.Trp104del, NP_001005527.1:p.Trp104del, XP_011531673.1:p.Trp104del, XP_011531674.1:p.Trp104del

Select item 14767089644.

rs1476708964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:68752895 (GRCh38)
3:68802046 (GRCh37)
Canonical SPDI:: NC_000003.12:68752894:C:T
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.68752895C>T, NC_000003.11:g.68802046C>T, NM_182522.5:c.254G>A, NM_182522.4:c.254G>A, NM_001005527.3:c.254G>A, NM_001005527.2:c.254G>A, XM_011533371.2:c.254G>A, XM_011533371.1:c.254G>A, XM_011533372.2:c.254G>A, XM_011533372.1:c.254G>A, NP_872328.1:p.Gly85Asp, NP_001005527.1:p.Gly85Asp, XP_011531673.1:p.Gly85Asp, XP_011531674.1:p.Gly85Asp

Select item 14727221325.

rs1472722132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:68739176 (GRCh38)
3:68788327 (GRCh37)
Canonical SPDI:: NC_000003.12:68739175:A:T
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.68739176A>T, NC_000003.11:g.68788327A>T, NM_182522.5:c.310T>A, NM_182522.4:c.310T>A, NM_001005527.3:c.310T>A, NM_001005527.2:c.310T>A, XM_011533371.2:c.310T>A, XM_011533371.1:c.310T>A, XM_011533372.2:c.310T>A, XM_011533372.1:c.310T>A, NP_872328.1:p.Trp104Arg, NP_001005527.1:p.Trp104Arg, XP_011531673.1:p.Trp104Arg, XP_011531674.1:p.Trp104Arg

Select item 14692929396.

rs1469292939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:68752972 (GRCh38)
3:68802123 (GRCh37)
Canonical SPDI:: NC_000003.12:68752971:G:C
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.68752972G>C, NC_000003.11:g.68802123G>C, NM_182522.5:c.177C>G, NM_182522.4:c.177C>G, NM_001005527.3:c.177C>G, NM_001005527.2:c.177C>G, XM_011533371.2:c.177C>G, XM_011533371.1:c.177C>G, XM_011533372.2:c.177C>G, XM_011533372.1:c.177C>G, NP_872328.1:p.His59Gln, NP_001005527.1:p.His59Gln, XP_011531673.1:p.His59Gln, XP_011531674.1:p.His59Gln

Select item 14666099857.

rs1466609985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:68752993 (GRCh38)
3:68802144 (GRCh37)
Canonical SPDI:: NC_000003.12:68752992:G:C,NC_000003.12:68752992:G:T
Gene:: TAFA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000003.12:g.68752993G>C, NC_000003.12:g.68752993G>T, NC_000003.11:g.68802144G>C, NC_000003.11:g.68802144G>T, NM_182522.5:c.156C>G, NM_182522.5:c.156C>A, NM_182522.4:c.156C>G, NM_182522.4:c.156C>A, NM_001005527.3:c.156C>G, NM_001005527.3:c.156C>A, NM_001005527.2:c.156C>G, NM_001005527.2:c.156C>A, XM_011533371.2:c.156C>G, XM_011533371.2:c.156C>A, XM_011533371.1:c.156C>G, XM_011533371.1:c.156C>A, XM_011533372.2:c.156C>G, XM_011533372.2:c.156C>A, XM_011533372.1:c.156C>G, XM_011533372.1:c.156C>A

Select item 14638027618.

rs1463802761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:68733018 (GRCh38)
3:68782169 (GRCh37)
Canonical SPDI:: NC_000003.12:68733017:A:T
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.68733018A>T, NC_000003.11:g.68782169A>T, NM_182522.5:c.*124T>A, NM_182522.4:c.*124T>A, NM_001005527.3:c.*124T>A, NM_001005527.2:c.*124T>A, XM_011533371.2:c.506T>A, XM_011533371.1:c.506T>A, XM_011533372.2:c.506T>A, XM_011533372.1:c.506T>A, XP_011531673.1:p.Met169Lys, XP_011531674.1:p.Met169Lys

Select item 14623177019.

rs1462317701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:68880802 (GRCh38)
3:68929953 (GRCh37)
Canonical SPDI:: NC_000003.12:68880801:A:G
Gene:: TAFA4 (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_000003.12:g.68880802A>G, NC_000003.11:g.68929953A>G, NM_182522.5:c.58T>C, NM_182522.4:c.58T>C, NM_001005527.3:c.58T>C, NM_001005527.2:c.58T>C, XM_011533371.2:c.58T>C, XM_011533371.1:c.58T>C, XM_011533372.2:c.58T>C, XM_011533372.1:c.58T>C, NP_872328.1:p.Phe20Leu, NP_001005527.1:p.Phe20Leu, XP_011531673.1:p.Phe20Leu, XP_011531674.1:p.Phe20Leu

Select item 146096019410.

rs1460960194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:68880817 (GRCh38)
3:68929968 (GRCh37)
Canonical SPDI:: NC_000003.12:68880816:G:T
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.68880817G>T, NC_000003.11:g.68929968G>T, NM_182522.5:c.43C>A, NM_182522.4:c.43C>A, NM_001005527.3:c.43C>A, NM_001005527.2:c.43C>A, XM_011533371.2:c.43C>A, XM_011533371.1:c.43C>A, XM_011533372.2:c.43C>A, XM_011533372.1:c.43C>A, NP_872328.1:p.Leu15Met, NP_001005527.1:p.Leu15Met, XP_011531673.1:p.Leu15Met, XP_011531674.1:p.Leu15Met

Select item 146027726911.

rs1460277269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:68752978 (GRCh38)
3:68802129 (GRCh37)
Canonical SPDI:: NC_000003.12:68752977:G:A
Gene:: TAFA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.68752978G>A, NC_000003.11:g.68802129G>A, NM_182522.5:c.171C>T, NM_182522.4:c.171C>T, NM_001005527.3:c.171C>T, NM_001005527.2:c.171C>T, XM_011533371.2:c.171C>T, XM_011533371.1:c.171C>T, XM_011533372.2:c.171C>T, XM_011533372.1:c.171C>T

Select item 145897444312.

rs1458974443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:68733078 (GRCh38)
3:68782229 (GRCh37)
Canonical SPDI:: NC_000003.12:68733077:A:C
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.68733078A>C, NC_000003.11:g.68782229A>C, NM_182522.5:c.*64T>G, NM_182522.4:c.*64T>G, NM_001005527.3:c.*64T>G, NM_001005527.2:c.*64T>G, XM_011533371.2:c.446T>G, XM_011533371.1:c.446T>G, XM_011533372.2:c.446T>G, XM_011533372.1:c.446T>G, XP_011531673.1:p.Phe149Cys, XP_011531674.1:p.Phe149Cys

Select item 145470511013.

rs1454705110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:68880769 (GRCh38)
3:68929920 (GRCh37)
Canonical SPDI:: NC_000003.12:68880768:G:C
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_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_000003.12:g.68880769G>C, NC_000003.11:g.68929920G>C, NM_182522.5:c.91C>G, NM_182522.4:c.91C>G, NM_001005527.3:c.91C>G, NM_001005527.2:c.91C>G, XM_011533371.2:c.91C>G, XM_011533371.1:c.91C>G, XM_011533372.2:c.91C>G, XM_011533372.1:c.91C>G, NP_872328.1:p.Leu31Val, NP_001005527.1:p.Leu31Val, XP_011531673.1:p.Leu31Val, XP_011531674.1:p.Leu31Val

Select item 145189405014.

rs1451894050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:68752949 (GRCh38)
3:68802100 (GRCh37)
Canonical SPDI:: NC_000003.12:68752948:A:C,NC_000003.12:68752948:A:G
Gene:: TAFA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000016/4 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.68752949A>C, NC_000003.12:g.68752949A>G, NC_000003.11:g.68802100A>C, NC_000003.11:g.68802100A>G, NM_182522.5:c.200T>G, NM_182522.5:c.200T>C, NM_182522.4:c.200T>G, NM_182522.4:c.200T>C, NM_001005527.3:c.200T>G, NM_001005527.3:c.200T>C, NM_001005527.2:c.200T>G, NM_001005527.2:c.200T>C, XM_011533371.2:c.200T>G, XM_011533371.2:c.200T>C, XM_011533371.1:c.200T>G, XM_011533371.1:c.200T>C, XM_011533372.2:c.200T>G, XM_011533372.2:c.200T>C, XM_011533372.1:c.200T>G, XM_011533372.1:c.200T>C, NP_872328.1:p.Ile67Arg, NP_872328.1:p.Ile67Thr, NP_001005527.1:p.Ile67Arg, NP_001005527.1:p.Ile67Thr, XP_011531673.1:p.Ile67Arg, XP_011531673.1:p.Ile67Thr, XP_011531674.1:p.Ile67Arg, XP_011531674.1:p.Ile67Thr

Select item 143504380315.

rs1435043803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:68739120 (GRCh38)
3:68788271 (GRCh37)
Canonical SPDI:: NC_000003.12:68739119:G:A
Gene:: TAFA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.68739120G>A, NC_000003.11:g.68788271G>A, NM_182522.5:c.366C>T, NM_182522.4:c.366C>T, NM_001005527.3:c.366C>T, NM_001005527.2:c.366C>T, XM_011533371.2:c.366C>T, XM_011533371.1:c.366C>T, XM_011533372.2:c.366C>T, XM_011533372.1:c.366C>T

Select item 143019042016.

rs1430190420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:68752908 (GRCh38)
3:68802059 (GRCh37)
Canonical SPDI:: NC_000003.12:68752907:C:T
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.68752908C>T, NC_000003.11:g.68802059C>T, NM_182522.5:c.241G>A, NM_182522.4:c.241G>A, NM_001005527.3:c.241G>A, NM_001005527.2:c.241G>A, XM_011533371.2:c.241G>A, XM_011533371.1:c.241G>A, XM_011533372.2:c.241G>A, XM_011533372.1:c.241G>A, NP_872328.1:p.Gly81Arg, NP_001005527.1:p.Gly81Arg, XP_011531673.1:p.Gly81Arg, XP_011531674.1:p.Gly81Arg

Select item 142808267617.

rs1428082676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:68739167 (GRCh38)
3:68788318 (GRCh37)
Canonical SPDI:: NC_000003.12:68739166:T:C
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.68739167T>C, NC_000003.11:g.68788318T>C, NM_182522.5:c.319A>G, NM_182522.4:c.319A>G, NM_001005527.3:c.319A>G, NM_001005527.2:c.319A>G, XM_011533371.2:c.319A>G, XM_011533371.1:c.319A>G, XM_011533372.2:c.319A>G, XM_011533372.1:c.319A>G, NP_872328.1:p.Met107Val, NP_001005527.1:p.Met107Val, XP_011531673.1:p.Met107Val, XP_011531674.1:p.Met107Val

Select item 142712813318.

rs1427128133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:68752868 (GRCh38)
3:68802019 (GRCh37)
Canonical SPDI:: NC_000003.12:68752867:A:G
Gene:: TAFA4 (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_000003.12:g.68752868A>G, NC_000003.11:g.68802019A>G, NM_182522.5:c.281T>C, NM_182522.4:c.281T>C, NM_001005527.3:c.281T>C, NM_001005527.2:c.281T>C, XM_011533371.2:c.281T>C, XM_011533371.1:c.281T>C, XM_011533372.2:c.281T>C, XM_011533372.1:c.281T>C, NP_872328.1:p.Val94Ala, NP_001005527.1:p.Val94Ala, XP_011531673.1:p.Val94Ala, XP_011531674.1:p.Val94Ala

Select item 142480742119.

rs1424807421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:68733129 (GRCh38)
3:68782280 (GRCh37)
Canonical SPDI:: NC_000003.12:68733128:A:T
Gene:: TAFA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.68733129A>T, NC_000003.11:g.68782280A>T, NM_182522.5:c.*13T>A, NM_182522.4:c.*13T>A, NM_001005527.3:c.*13T>A, NM_001005527.2:c.*13T>A, XM_011533371.2:c.395T>A, XM_011533371.1:c.395T>A, XM_011533372.2:c.395T>A, XM_011533372.1:c.395T>A, XP_011531673.1:p.Val132Glu, XP_011531674.1:p.Val132Glu

Select item 142384717620.

rs1423847176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:68880752 (GRCh38)
3:68929903 (GRCh37)
Canonical SPDI:: NC_000003.12:68880751:G:C
Gene:: TAFA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.68880752G>C, NC_000003.11:g.68929903G>C, NM_182522.5:c.108C>G, NM_182522.4:c.108C>G, NM_001005527.3:c.108C>G, NM_001005527.2:c.108C>G, XM_011533371.2:c.108C>G, XM_011533371.1:c.108C>G, XM_011533372.2:c.108C>G, XM_011533372.1:c.108C>G, NP_872328.1:p.Ser36Arg, NP_001005527.1:p.Ser36Arg, XP_011531673.1:p.Ser36Arg, XP_011531674.1:p.Ser36Arg

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