SNP Links for Protein (Select 149944496) - SNP

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Links from Protein

Items: 1 to 20 of 305

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Select item 14880028001.

rs1488002800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196393599 (GRCh38)
3:196120470 (GRCh37)
Canonical SPDI:: NC_000003.12:196393598:C:T
Gene:: UBXN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196393599C>T, NC_000003.11:g.196120470C>T, XM_011512671.3:c.-135G>A, XM_011512671.2:c.-135G>A, XM_011512671.1:c.-135G>A, NM_015562.2:c.310G>A, NM_015562.1:c.310G>A, NP_056377.1:p.Ala104Thr

Select item 14836463802.

rs1483646380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:196407306 (GRCh38)
3:196134177 (GRCh37)
Canonical SPDI:: NC_000003.12:196407305:C:A
Gene:: UBXN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196407306C>A, NC_000003.11:g.196134177C>A, NM_015562.2:c.161G>T, NM_015562.1:c.161G>T, NP_056377.1:p.Gly54Val

Select item 14831850673.

rs1483185067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196372028 (GRCh38)
3:196098899 (GRCh37)
Canonical SPDI:: NC_000003.12:196372027:G:A
Gene:: UBXN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196372028G>A, NC_000003.11:g.196098899G>A, XM_011512671.3:c.39C>T, XM_011512671.2:c.39C>T, XM_011512671.1:c.39C>T, NM_015562.2:c.483C>T, NM_015562.1:c.483C>T

Select item 14793773764.

rs1479377376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196432351 (GRCh38)
3:196159222 (GRCh37)
Canonical SPDI:: NC_000003.12:196432350:T:C
Gene:: UBXN7 (Varview), UBXN7-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.196432351T>C, NC_000003.11:g.196159222T>C, XM_011512671.3:c.-248A>G, XM_011512671.2:c.-248A>G, XM_011512671.1:c.-248A>G, NM_015562.2:c.49A>G, NM_015562.1:c.49A>G, NR_046745.1:n.207T>C, NP_056377.1:p.Ile17Val

Select item 14771003445.

rs1477100344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196362320 (GRCh38)
3:196089191 (GRCh37)
Canonical SPDI:: NC_000003.12:196362319:C:T
Gene:: UBXN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.196362320C>T, NC_000003.11:g.196089191C>T, XM_011512671.3:c.758G>A, XM_011512671.2:c.758G>A, XM_011512671.1:c.758G>A, NM_015562.2:c.1202G>A, NM_015562.1:c.1202G>A, XP_011510973.1:p.Gly253Glu, NP_056377.1:p.Gly401Glu

Select item 14756169816.

rs1475616981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196356696 (GRCh38)
3:196083567 (GRCh37)
Canonical SPDI:: NC_000003.12:196356695:C:T
Gene:: UBXN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.196356696C>T, NC_000003.11:g.196083567C>T, XM_011512671.3:c.1015G>A, XM_011512671.2:c.1015G>A, XM_011512671.1:c.1015G>A, NM_015562.2:c.1459G>A, NM_015562.1:c.1459G>A, XP_011510973.1:p.Glu339Lys, NP_056377.1:p.Glu487Lys

Select item 14721944197.

rs1472194419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196391896 (GRCh38)
3:196118767 (GRCh37)
Canonical SPDI:: NC_000003.12:196391895:C:T
Gene:: UBXN7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196391896C>T, NC_000003.11:g.196118767C>T, XM_011512671.3:c.-60G>A, XM_011512671.2:c.-60G>A, XM_011512671.1:c.-60G>A, NM_015562.2:c.385G>A, NM_015562.1:c.385G>A, NP_056377.1:p.Gly129Arg

Select item 14671360688.

rs1467136068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196368036 (GRCh38)
3:196094907 (GRCh37)
Canonical SPDI:: NC_000003.12:196368035:C:T
Gene:: UBXN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.196368036C>T, NC_000003.11:g.196094907C>T, XM_011512671.3:c.382G>A, XM_011512671.2:c.382G>A, XM_011512671.1:c.382G>A, NM_015562.2:c.826G>A, NM_015562.1:c.826G>A, XP_011510973.1:p.Ala128Thr, NP_056377.1:p.Ala276Thr

Select item 14665696219.

rs1466569621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196391870 (GRCh38)
3:196118741 (GRCh37)
Canonical SPDI:: NC_000003.12:196391869:G:A
Gene:: UBXN7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196391870G>A, NC_000003.11:g.196118741G>A, XM_011512671.3:c.-34C>T, XM_011512671.2:c.-34C>T, XM_011512671.1:c.-34C>T, NM_015562.2:c.411C>T, NM_015562.1:c.411C>T

Select item 146462677910.

rs1464626779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:196362301 (GRCh38)
3:196089172 (GRCh37)
Canonical SPDI:: NC_000003.12:196362300:A:T
Gene:: UBXN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.196362301A>T, NC_000003.11:g.196089172A>T, XM_011512671.3:c.777T>A, XM_011512671.2:c.777T>A, XM_011512671.1:c.777T>A, NM_015562.2:c.1221T>A, NM_015562.1:c.1221T>A, XP_011510973.1:p.Asp259Glu, NP_056377.1:p.Asp407Glu

Select item 146128949011.

rs1461289490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196369474 (GRCh38)
3:196096345 (GRCh37)
Canonical SPDI:: NC_000003.12:196369473:T:C
Gene:: UBXN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.196369474T>C, NC_000003.11:g.196096345T>C, XM_011512671.3:c.209A>G, XM_011512671.2:c.209A>G, XM_011512671.1:c.209A>G, NM_015562.2:c.653A>G, NM_015562.1:c.653A>G, XP_011510973.1:p.Gln70Arg, NP_056377.1:p.Gln218Arg

Select item 146010582712.

rs1460105827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196371902 (GRCh38)
3:196098773 (GRCh37)
Canonical SPDI:: NC_000003.12:196371901:G:A
Gene:: UBXN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196371902G>A, NC_000003.11:g.196098773G>A, XM_011512671.3:c.165C>T, XM_011512671.2:c.165C>T, XM_011512671.1:c.165C>T, NM_015562.2:c.609C>T, NM_015562.1:c.609C>T

Select item 145629636513.

rs1456296365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:196361889 (GRCh38)
3:196088760 (GRCh37)
Canonical SPDI:: NC_000003.12:196361888:A:G,NC_000003.12:196361888:A:T
Gene:: UBXN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196361889A>G, NC_000003.12:g.196361889A>T, NC_000003.11:g.196088760A>G, NC_000003.11:g.196088760A>T, XM_011512671.3:c.819T>C, XM_011512671.3:c.819T>A, XM_011512671.2:c.819T>C, XM_011512671.2:c.819T>A, XM_011512671.1:c.819T>C, XM_011512671.1:c.819T>A, NM_015562.2:c.1263T>C, NM_015562.2:c.1263T>A, NM_015562.1:c.1263T>C, NM_015562.1:c.1263T>A, XP_011510973.1:p.Asp273Glu, NP_056377.1:p.Asp421Glu

Select item 145586151114.

rs1455861511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196432337 (GRCh38)
3:196159208 (GRCh37)
Canonical SPDI:: NC_000003.12:196432336:G:A
Gene:: UBXN7 (Varview), UBXN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.196432337G>A, NC_000003.11:g.196159208G>A, XM_011512671.3:c.-234C>T, XM_011512671.2:c.-234C>T, XM_011512671.1:c.-234C>T, NM_015562.2:c.63C>T, NM_015562.1:c.63C>T, NR_046745.1:n.193G>A

Select item 145339051815.

rs1453390518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:196369428 (GRCh38)
3:196096299 (GRCh37)
Canonical SPDI:: NC_000003.12:196369427:T:G
Gene:: UBXN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196369428T>G, NC_000003.11:g.196096299T>G, XM_011512671.3:c.255A>C, XM_011512671.2:c.255A>C, XM_011512671.1:c.255A>C, NM_015562.2:c.699A>C, NM_015562.1:c.699A>C

Select item 145105464216.

rs1451054642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196369477 (GRCh38)
3:196096348 (GRCh37)
Canonical SPDI:: NC_000003.12:196369476:A:G
Gene:: UBXN7 (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_000003.12:g.196369477A>G, NC_000003.11:g.196096348A>G, XM_011512671.3:c.206T>C, XM_011512671.2:c.206T>C, XM_011512671.1:c.206T>C, NM_015562.2:c.650T>C, NM_015562.1:c.650T>C, XP_011510973.1:p.Ile69Thr, NP_056377.1:p.Ile217Thr

Select item 144728523917.

rs1447285239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196407332 (GRCh38)
3:196134203 (GRCh37)
Canonical SPDI:: NC_000003.12:196407331:T:C
Gene:: UBXN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196407332T>C, NC_000003.11:g.196134203T>C, NM_015562.2:c.135A>G, NM_015562.1:c.135A>G

Select item 144609226618.

rs1446092266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196362541 (GRCh38)
3:196089412 (GRCh37)
Canonical SPDI:: NC_000003.12:196362540:C:T
Gene:: UBXN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.196362541C>T, NC_000003.11:g.196089412C>T, XM_011512671.3:c.537G>A, XM_011512671.2:c.537G>A, XM_011512671.1:c.537G>A, NM_015562.2:c.981G>A, NM_015562.1:c.981G>A

Select item 143478570219.

rs1434785702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196362364 (GRCh38)
3:196089235 (GRCh37)
Canonical SPDI:: NC_000003.12:196362363:A:G
Gene:: UBXN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196362364A>G, NC_000003.11:g.196089235A>G, XM_011512671.3:c.714T>C, XM_011512671.2:c.714T>C, XM_011512671.1:c.714T>C, NM_015562.2:c.1158T>C, NM_015562.1:c.1158T>C

Select item 143212404020.

rs1432124040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:196361892 (GRCh38)
3:196088763 (GRCh37)
Canonical SPDI:: NC_000003.12:196361891:T:G
Gene:: UBXN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.196361892T>G, NC_000003.11:g.196088763T>G, XM_011512671.3:c.816A>C, XM_011512671.2:c.816A>C, XM_011512671.1:c.816A>C, NM_015562.2:c.1260A>C, NM_015562.1:c.1260A>C

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