SNP Links for Protein (Select 6912530) - SNP

Links from Protein

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Select item 14897506171.

rs1489750617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69498290 (GRCh38)
10:71258046 (GRCh37)
Canonical SPDI:: NC_000010.11:69498289:G:A
Gene:: TSPAN15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69498290G>A, NC_000010.10:g.71258046G>A, XM_005269666.5:c.269G>A, XM_005269666.4:c.269G>A, XM_005269666.3:c.269G>A, XM_005269666.2:c.269G>A, XM_005269666.1:c.269G>A, NM_012339.5:c.464G>A, NM_012339.4:c.464G>A, NM_012339.3:c.464G>A, XM_011539563.3:c.32G>A, XM_011539563.2:c.32G>A, XM_011539563.1:c.32G>A, XM_011539562.3:c.116G>A, XM_011539562.2:c.116G>A, XM_011539562.1:c.116G>A, XR_001747072.2:n.665G>A, XR_001747072.1:n.666G>A, XM_017016010.2:c.535G>A, XM_017016010.1:c.535G>A, NR_147091.2:n.665G>A, NR_147091.1:n.663G>A, NM_001351263.2:c.203G>A, NM_001351263.1:c.203G>A, XR_007061952.1:n.404G>A, XR_007061951.1:n.665G>A, XM_047424930.1:c.464G>A, XP_005269723.1:p.Cys90Tyr, NP_036471.1:p.Cys155Tyr, XP_011537865.1:p.Cys11Tyr, XP_011537864.1:p.Cys39Tyr, XP_016871499.1:p.Val179Met, NP_001338192.1:p.Cys68Tyr, XP_047280886.1:p.Cys155Tyr

Select item 14877741742.

rs1487774174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:69483720 (GRCh38)
10:71243476 (GRCh37)
Canonical SPDI:: NC_000010.11:69483719:C:A
Gene:: TSPAN15 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69483720C>A, NC_000010.10:g.71243476C>A, NM_012339.5:c.126C>A, NM_012339.4:c.126C>A, NM_012339.3:c.126C>A, XR_001747072.2:n.256C>A, XR_001747072.1:n.257C>A, XM_017016010.2:c.126C>A, XM_017016010.1:c.126C>A, NR_147091.2:n.256C>A, NR_147091.1:n.254C>A, XR_007061951.1:n.256C>A, XM_047424930.1:c.126C>A

Select item 14846532173.

rs1484653217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:69506145 (GRCh38)
10:71265901 (GRCh37)
Canonical SPDI:: NC_000010.11:69506144:A:G,NC_000010.11:69506144:A:T
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69506145A>G, NC_000010.11:g.69506145A>T, NC_000010.10:g.71265901A>G, NC_000010.10:g.71265901A>T, XM_005269666.5:c.445A>G, XM_005269666.5:c.445A>T, XM_005269666.4:c.445A>G, XM_005269666.4:c.445A>T, XM_005269666.3:c.445A>G, XM_005269666.3:c.445A>T, XM_005269666.2:c.445A>G, XM_005269666.2:c.445A>T, XM_005269666.1:c.445A>G, XM_005269666.1:c.445A>T, NM_012339.5:c.640A>G, NM_012339.5:c.640A>T, NM_012339.4:c.640A>G, NM_012339.4:c.640A>T, NM_012339.3:c.640A>G, NM_012339.3:c.640A>T, XM_011539563.3:c.208A>G, XM_011539563.3:c.208A>T, XM_011539563.2:c.208A>G, XM_011539563.2:c.208A>T, XM_011539563.1:c.208A>G, XM_011539563.1:c.208A>T, XM_011539562.3:c.292A>G, XM_011539562.3:c.292A>T, XM_011539562.2:c.292A>G, XM_011539562.2:c.292A>T, XM_011539562.1:c.292A>G, XM_011539562.1:c.292A>T, NR_147091.2:n.841A>G, NR_147091.2:n.841A>T, NR_147091.1:n.839A>G, NR_147091.1:n.839A>T, NM_001351263.2:c.379A>G, NM_001351263.2:c.379A>T, NM_001351263.1:c.379A>G, NM_001351263.1:c.379A>T, XP_005269723.1:p.Ile149Val, XP_005269723.1:p.Ile149Phe, NP_036471.1:p.Ile214Val, NP_036471.1:p.Ile214Phe, XP_011537865.1:p.Ile70Val, XP_011537865.1:p.Ile70Phe, XP_011537864.1:p.Ile98Val, XP_011537864.1:p.Ile98Phe, NP_001338192.1:p.Ile127Val, NP_001338192.1:p.Ile127Phe

Select item 14831692544.

rs1483169254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69506205 (GRCh38)
10:71265961 (GRCh37)
Canonical SPDI:: NC_000010.11:69506204:A:G
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69506205A>G, NC_000010.10:g.71265961A>G, XM_005269666.5:c.505A>G, XM_005269666.4:c.505A>G, XM_005269666.3:c.505A>G, XM_005269666.2:c.505A>G, XM_005269666.1:c.505A>G, NM_012339.5:c.700A>G, NM_012339.4:c.700A>G, NM_012339.3:c.700A>G, XM_011539563.3:c.268A>G, XM_011539563.2:c.268A>G, XM_011539563.1:c.268A>G, XM_011539562.3:c.352A>G, XM_011539562.2:c.352A>G, XM_011539562.1:c.352A>G, NR_147091.2:n.901A>G, NR_147091.1:n.899A>G, NM_001351263.2:c.439A>G, NM_001351263.1:c.439A>G, XP_005269723.1:p.Met169Val, NP_036471.1:p.Met234Val, XP_011537865.1:p.Met90Val, XP_011537864.1:p.Met118Val, NP_001338192.1:p.Met147Val

Select item 14690804325.

rs1469080432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:69506216 (GRCh38)
10:71265972 (GRCh37)
Canonical SPDI:: NC_000010.11:69506215:C:G
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_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)
HGVS:: NC_000010.11:g.69506216C>G, NC_000010.10:g.71265972C>G, XM_005269666.5:c.516C>G, XM_005269666.4:c.516C>G, XM_005269666.3:c.516C>G, XM_005269666.2:c.516C>G, XM_005269666.1:c.516C>G, NM_012339.5:c.711C>G, NM_012339.4:c.711C>G, NM_012339.3:c.711C>G, XM_011539563.3:c.279C>G, XM_011539563.2:c.279C>G, XM_011539563.1:c.279C>G, XM_011539562.3:c.363C>G, XM_011539562.2:c.363C>G, XM_011539562.1:c.363C>G, NR_147091.2:n.912C>G, NR_147091.1:n.910C>G, NM_001351263.2:c.450C>G, NM_001351263.1:c.450C>G, XP_005269723.1:p.Ile172Met, NP_036471.1:p.Ile237Met, XP_011537865.1:p.Ile93Met, XP_011537864.1:p.Ile121Met, NP_001338192.1:p.Ile150Met

Select item 14684056316.

rs1468405631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:69506175 (GRCh38)
10:71265931 (GRCh37)
Canonical SPDI:: NC_000010.11:69506174:A:T
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000396/6 (ALFA)
T=0.00005/7 (GnomAD)
T=0.001339/6 (Estonian)
HGVS:: NC_000010.11:g.69506175A>T, NC_000010.10:g.71265931A>T, XM_005269666.5:c.475A>T, XM_005269666.4:c.475A>T, XM_005269666.3:c.475A>T, XM_005269666.2:c.475A>T, XM_005269666.1:c.475A>T, NM_012339.5:c.670A>T, NM_012339.4:c.670A>T, NM_012339.3:c.670A>T, XM_011539563.3:c.238A>T, XM_011539563.2:c.238A>T, XM_011539563.1:c.238A>T, XM_011539562.3:c.322A>T, XM_011539562.2:c.322A>T, XM_011539562.1:c.322A>T, NR_147091.2:n.871A>T, NR_147091.1:n.869A>T, NM_001351263.2:c.409A>T, NM_001351263.1:c.409A>T, XP_005269723.1:p.Ile159Phe, NP_036471.1:p.Ile224Phe, XP_011537865.1:p.Ile80Phe, XP_011537864.1:p.Ile108Phe, NP_001338192.1:p.Ile137Phe

Select item 14683361317.

rs1468336131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69495677 (GRCh38)
10:71255433 (GRCh37)
Canonical SPDI:: NC_000010.11:69495676:T:C
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69495677T>C, NC_000010.10:g.71255433T>C, XM_005269666.5:c.246T>C, XM_005269666.4:c.246T>C, XM_005269666.3:c.246T>C, XM_005269666.2:c.246T>C, XM_005269666.1:c.246T>C, NM_012339.5:c.441T>C, NM_012339.4:c.441T>C, NM_012339.3:c.441T>C, XM_011539563.3:c.9T>C, XM_011539563.2:c.9T>C, XM_011539563.1:c.9T>C, XM_011539562.3:c.93T>C, XM_011539562.2:c.93T>C, XM_011539562.1:c.93T>C, XR_001747072.2:n.571T>C, XR_001747072.1:n.572T>C, XM_017016010.2:c.441T>C, XM_017016010.1:c.441T>C, NR_147091.2:n.571T>C, NR_147091.1:n.569T>C, NM_001351263.2:c.180T>C, NM_001351263.1:c.180T>C, XR_007061952.1:n.310T>C, XR_007061951.1:n.571T>C, XM_047424930.1:c.441T>C

Select item 14683202788.

rs1468320278 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:69483767 (GRCh38)
10:71243523 (GRCh37)
Canonical SPDI:: NC_000010.11:69483766:CC:C
Gene:: TSPAN15 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69483768del, NC_000010.10:g.71243524del, NM_012339.5:c.174del, NM_012339.4:c.174del, NM_012339.3:c.174del, XR_001747072.2:n.304del, XR_001747072.1:n.305del, XM_017016010.2:c.174del, XM_017016010.1:c.174del, NR_147091.2:n.304del, NR_147091.1:n.302del, XR_007061951.1:n.304del, XM_047424930.1:c.174del, NP_036471.1:p.Phe59fs, XP_016871499.1:p.Phe59fs, XP_047280886.1:p.Phe59fs

Select item 14677990979.

rs1467799097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69495670 (GRCh38)
10:71255426 (GRCh37)
Canonical SPDI:: NC_000010.11:69495669:T:C
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.69495670T>C, NC_000010.10:g.71255426T>C, XM_005269666.5:c.239T>C, XM_005269666.4:c.239T>C, XM_005269666.3:c.239T>C, XM_005269666.2:c.239T>C, XM_005269666.1:c.239T>C, NM_012339.5:c.434T>C, NM_012339.4:c.434T>C, NM_012339.3:c.434T>C, XM_011539563.3:c.2T>C, XM_011539563.2:c.2T>C, XM_011539563.1:c.2T>C, XM_011539562.3:c.86T>C, XM_011539562.2:c.86T>C, XM_011539562.1:c.86T>C, XR_001747072.2:n.564T>C, XR_001747072.1:n.565T>C, XM_017016010.2:c.434T>C, XM_017016010.1:c.434T>C, NR_147091.2:n.564T>C, NR_147091.1:n.562T>C, NM_001351263.2:c.173T>C, NM_001351263.1:c.173T>C, XR_007061952.1:n.303T>C, XR_007061951.1:n.564T>C, XM_047424930.1:c.434T>C, XP_005269723.1:p.Met80Thr, NP_036471.1:p.Met145Thr, XP_011537865.1:p.Met1Thr, XP_011537864.1:p.Met29Thr, XP_016871499.1:p.Met145Thr, NP_001338192.1:p.Met58Thr, XP_047280886.1:p.Met145Thr

Select item 146473413010.

rs1464734130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:69451633 (GRCh38)
10:71211389 (GRCh37)
Canonical SPDI:: NC_000010.11:69451632:G:T
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000343/1 (KOREAN)
T=0.000555/1 (Korea1K)
T=0.000814/14 (TOMMO)
HGVS:: NC_000010.11:g.69451633G>T, NC_000010.10:g.71211389G>T, NM_012339.5:c.39G>T, NM_012339.4:c.39G>T, NM_012339.3:c.39G>T, XR_001747072.2:n.169G>T, XR_001747072.1:n.170G>T, XM_017016010.2:c.39G>T, XM_017016010.1:c.39G>T, NR_147091.2:n.169G>T, NR_147091.1:n.167G>T, NM_001351263.2:c.39G>T, NM_001351263.1:c.39G>T, XR_007061952.1:n.169G>T, XR_007061951.1:n.169G>T, XM_047424930.1:c.39G>T

Select item 146285639211.

rs1462856392 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>- [Show Flanks]
Chromosome:: 10:69506132 (GRCh38)
10:71265888 (GRCh37)
Canonical SPDI:: NC_000010.11:69506130:GTGTG:G
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.69506132_69506135del, NC_000010.10:g.71265888_71265891del, XM_005269666.5:c.432_435del, XM_005269666.4:c.432_435del, XM_005269666.3:c.432_435del, XM_005269666.2:c.432_435del, XM_005269666.1:c.432_435del, NM_012339.5:c.627_630del, NM_012339.4:c.627_630del, NM_012339.3:c.627_630del, XM_011539563.3:c.195_198del, XM_011539563.2:c.195_198del, XM_011539563.1:c.195_198del, XM_011539562.3:c.279_282del, XM_011539562.2:c.279_282del, XM_011539562.1:c.279_282del, NR_147091.2:n.828_831del, NR_147091.1:n.826_829del, NM_001351263.2:c.366_369del, NM_001351263.1:c.366_369del, XP_005269723.1:p.Val145fs, NP_036471.1:p.Val210fs, XP_011537865.1:p.Val66fs, XP_011537864.1:p.Val94fs, NP_001338192.1:p.Val123fs

Select item 145682767512.

rs1456827675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69451674 (GRCh38)
10:71211430 (GRCh37)
Canonical SPDI:: NC_000010.11:69451673:A:G
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69451674A>G, NC_000010.10:g.71211430A>G, NM_012339.5:c.80A>G, NM_012339.4:c.80A>G, NM_012339.3:c.80A>G, XR_001747072.2:n.210A>G, XR_001747072.1:n.211A>G, XM_017016010.2:c.80A>G, XM_017016010.1:c.80A>G, NR_147091.2:n.210A>G, NR_147091.1:n.208A>G, NM_001351263.2:c.80A>G, NM_001351263.1:c.80A>G, XR_007061952.1:n.210A>G, XR_007061951.1:n.210A>G, XM_047424930.1:c.80A>G, NP_036471.1:p.Tyr27Cys, XP_016871499.1:p.Tyr27Cys, NP_001338192.1:p.Tyr27Cys, XP_047280886.1:p.Tyr27Cys

Select item 145284378613.

rs1452843786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69506958 (GRCh38)
10:71266714 (GRCh37)
Canonical SPDI:: NC_000010.11:69506957:T:C
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.69506958T>C, NC_000010.10:g.71266714T>C, XM_005269666.5:c.670T>C, XM_005269666.4:c.670T>C, XM_005269666.3:c.670T>C, XM_005269666.2:c.670T>C, XM_005269666.1:c.670T>C, NM_012339.5:c.865T>C, NM_012339.4:c.865T>C, NM_012339.3:c.865T>C, XM_011539563.3:c.433T>C, XM_011539563.2:c.433T>C, XM_011539563.1:c.433T>C, XM_011539562.3:c.517T>C, XM_011539562.2:c.517T>C, XM_011539562.1:c.517T>C, NR_147091.2:n.1066T>C, NR_147091.1:n.1064T>C, NM_001351263.2:c.604T>C, NM_001351263.1:c.604T>C, XP_005269723.1:p.Cys224Arg, NP_036471.1:p.Cys289Arg, XP_011537865.1:p.Cys145Arg, XP_011537864.1:p.Cys173Arg, NP_001338192.1:p.Cys202Arg

Select item 144975851514.

rs1449758515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69506886 (GRCh38)
10:71266642 (GRCh37)
Canonical SPDI:: NC_000010.11:69506885:G:A
Gene:: TSPAN15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69506886G>A, NC_000010.10:g.71266642G>A, XM_005269666.5:c.598G>A, XM_005269666.4:c.598G>A, XM_005269666.3:c.598G>A, XM_005269666.2:c.598G>A, XM_005269666.1:c.598G>A, NM_012339.5:c.793G>A, NM_012339.4:c.793G>A, NM_012339.3:c.793G>A, XM_011539563.3:c.361G>A, XM_011539563.2:c.361G>A, XM_011539563.1:c.361G>A, XM_011539562.3:c.445G>A, XM_011539562.2:c.445G>A, XM_011539562.1:c.445G>A, NR_147091.2:n.994G>A, NR_147091.1:n.992G>A, NM_001351263.2:c.532G>A, NM_001351263.1:c.532G>A, XP_005269723.1:p.Glu200Lys, NP_036471.1:p.Glu265Lys, XP_011537865.1:p.Glu121Lys, XP_011537864.1:p.Glu149Lys, NP_001338192.1:p.Glu178Lys

Select item 143625467115.

rs1436254671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:69485168 (GRCh38)
10:71244924 (GRCh37)
Canonical SPDI:: NC_000010.11:69485167:A:C
Gene:: TSPAN15 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69485168A>C, NC_000010.10:g.71244924A>C, NM_012339.5:c.310A>C, NM_012339.4:c.310A>C, NM_012339.3:c.310A>C, XR_001747072.2:n.440A>C, XR_001747072.1:n.441A>C, XM_017016010.2:c.310A>C, XM_017016010.1:c.310A>C, NR_147091.2:n.440A>C, NR_147091.1:n.438A>C, XR_007061951.1:n.440A>C, XM_047424930.1:c.310A>C, NP_036471.1:p.Ile104Leu, XP_016871499.1:p.Ile104Leu, XP_047280886.1:p.Ile104Leu

Select item 143576021916.

rs1435760219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:69451680 (GRCh38)
10:71211436 (GRCh37)
Canonical SPDI:: NC_000010.11:69451679:C:T
Gene:: TSPAN15 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_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_000010.11:g.69451680C>T, NC_000010.10:g.71211436C>T, NM_012339.5:c.86C>T, NM_012339.4:c.86C>T, NM_012339.3:c.86C>T, XR_001747072.2:n.216C>T, XR_001747072.1:n.217C>T, XM_017016010.2:c.86C>T, XM_017016010.1:c.86C>T, NR_147091.2:n.216C>T, NR_147091.1:n.214C>T, NM_001351263.2:c.86C>T, NM_001351263.1:c.86C>T, XR_007061952.1:n.216C>T, XR_007061951.1:n.216C>T, XM_047424930.1:c.86C>T, NP_036471.1:p.Thr29Ile, XP_016871499.1:p.Thr29Ile, NP_001338192.1:p.Thr29Ile, XP_047280886.1:p.Thr29Ile

Select item 143086218817.

rs1430862188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69506954 (GRCh38)
10:71266710 (GRCh37)
Canonical SPDI:: NC_000010.11:69506953:A:G
Gene:: TSPAN15 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.69506954A>G, NC_000010.10:g.71266710A>G, XM_005269666.5:c.666A>G, XM_005269666.4:c.666A>G, XM_005269666.3:c.666A>G, XM_005269666.2:c.666A>G, XM_005269666.1:c.666A>G, NM_012339.5:c.861A>G, NM_012339.4:c.861A>G, NM_012339.3:c.861A>G, XM_011539563.3:c.429A>G, XM_011539563.2:c.429A>G, XM_011539563.1:c.429A>G, XM_011539562.3:c.513A>G, XM_011539562.2:c.513A>G, XM_011539562.1:c.513A>G, NR_147091.2:n.1062A>G, NR_147091.1:n.1060A>G, NM_001351263.2:c.600A>G, NM_001351263.1:c.600A>G

Select item 143019313618.

rs1430193136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:69483753 (GRCh38)
10:71243509 (GRCh37)
Canonical SPDI:: NC_000010.11:69483752:A:C
Gene:: TSPAN15 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.69483753A>C, NC_000010.10:g.71243509A>C, NM_012339.5:c.159A>C, NM_012339.4:c.159A>C, NM_012339.3:c.159A>C, XR_001747072.2:n.289A>C, XR_001747072.1:n.290A>C, XM_017016010.2:c.159A>C, XM_017016010.1:c.159A>C, NR_147091.2:n.289A>C, NR_147091.1:n.287A>C, XR_007061951.1:n.289A>C, XM_047424930.1:c.159A>C, NP_036471.1:p.Lys53Asn, XP_016871499.1:p.Lys53Asn, XP_047280886.1:p.Lys53Asn

Select item 142763810119.

rs1427638101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69483857 (GRCh38)
10:71243613 (GRCh37)
Canonical SPDI:: NC_000010.11:69483856:A:G
Gene:: TSPAN15 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69483857A>G, NC_000010.10:g.71243613A>G, NM_012339.5:c.263A>G, NM_012339.4:c.263A>G, NM_012339.3:c.263A>G, XR_001747072.2:n.393A>G, XR_001747072.1:n.394A>G, XM_017016010.2:c.263A>G, XM_017016010.1:c.263A>G, NR_147091.2:n.393A>G, NR_147091.1:n.391A>G, XR_007061951.1:n.393A>G, XM_047424930.1:c.263A>G, NP_036471.1:p.Asn88Ser, XP_016871499.1:p.Asn88Ser, XP_047280886.1:p.Asn88Ser

Select item 142451988920.

rs1424519889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69483749 (GRCh38)
10:71243505 (GRCh37)
Canonical SPDI:: NC_000010.11:69483748:A:G
Gene:: TSPAN15 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.69483749A>G, NC_000010.10:g.71243505A>G, NM_012339.5:c.155A>G, NM_012339.4:c.155A>G, NM_012339.3:c.155A>G, XR_001747072.2:n.285A>G, XR_001747072.1:n.286A>G, XM_017016010.2:c.155A>G, XM_017016010.1:c.155A>G, NR_147091.2:n.285A>G, NR_147091.1:n.283A>G, XR_007061951.1:n.285A>G, XM_047424930.1:c.155A>G, NP_036471.1:p.Tyr52Cys, XP_016871499.1:p.Tyr52Cys, XP_047280886.1:p.Tyr52Cys

dbSNP

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