SNP Links for Protein (Select 210147446) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 566

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Select item 14906973531.

rs1490697353 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:114705893 (GRCh38)
11:114576615 (GRCh37)
Canonical SPDI:: NC_000011.10:114705892:T:C
Gene:: NXPE2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114705893T>C, NC_000011.9:g.114576615T>C, NM_182495.6:c.1041T>C, NM_182495.5:c.1041T>C, XM_011542604.3:c.969T>C, XM_011542604.2:c.969T>C, XM_011542604.1:c.969T>C, XM_017017209.2:c.969T>C, XM_017017209.1:c.969T>C, XM_017017207.2:c.969T>C, XM_017017207.1:c.969T>C, XM_017017206.2:c.1017T>C, XM_017017206.1:c.1017T>C, XM_017017212.2:c.1041T>C, XM_017017212.1:c.1041T>C, XM_017017211.2:c.1041T>C, XM_017017211.1:c.1041T>C, XR_001747769.2:n.1090T>C, XR_001747769.1:n.1108T>C

Select item 14906398632.

rs1490639863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:114698103 (GRCh38)
11:114568825 (GRCh37)
Canonical SPDI:: NC_000011.10:114698102:A:G,NC_000011.10:114698102:A:T
Gene:: NXPE2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114698103A>G, NC_000011.10:g.114698103A>T, NC_000011.9:g.114568825A>G, NC_000011.9:g.114568825A>T, NM_182495.6:c.191A>G, NM_182495.6:c.191A>T, NM_182495.5:c.191A>G, NM_182495.5:c.191A>T, XM_011542604.3:c.119A>G, XM_011542604.3:c.119A>T, XM_011542604.2:c.119A>G, XM_011542604.2:c.119A>T, XM_011542604.1:c.119A>G, XM_011542604.1:c.119A>T, XM_017017209.2:c.119A>G, XM_017017209.2:c.119A>T, XM_017017209.1:c.119A>G, XM_017017209.1:c.119A>T, XM_017017207.2:c.119A>G, XM_017017207.2:c.119A>T, XM_017017207.1:c.119A>G, XM_017017207.1:c.119A>T, XM_017017206.2:c.167A>G, XM_017017206.2:c.167A>T, XM_017017206.1:c.167A>G, XM_017017206.1:c.167A>T, XM_017017212.2:c.191A>G, XM_017017212.2:c.191A>T, XM_017017212.1:c.191A>G, XM_017017212.1:c.191A>T, XM_017017211.2:c.191A>G, XM_017017211.2:c.191A>T, XM_017017211.1:c.191A>G, XM_017017211.1:c.191A>T, XR_001747769.2:n.240A>G, XR_001747769.2:n.240A>T, XR_001747769.1:n.258A>G, XR_001747769.1:n.258A>T, NP_872301.2:p.Tyr64Cys, NP_872301.2:p.Tyr64Phe, XP_011540906.1:p.Tyr40Cys, XP_011540906.1:p.Tyr40Phe, XP_016872698.1:p.Tyr40Cys, XP_016872698.1:p.Tyr40Phe, XP_016872696.1:p.Tyr40Cys, XP_016872696.1:p.Tyr40Phe, XP_016872695.1:p.Tyr56Cys, XP_016872695.1:p.Tyr56Phe, XP_016872701.1:p.Tyr64Cys, XP_016872701.1:p.Tyr64Phe, XP_016872700.1:p.Tyr64Cys, XP_016872700.1:p.Tyr64Phe

Select item 14901924933.

rs1490192493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:114706571 (GRCh38)
11:114577293 (GRCh37)
Canonical SPDI:: NC_000011.10:114706570:G:A
Gene:: NXPE2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114706571G>A, NC_000011.9:g.114577293G>A, NM_182495.6:c.1321G>A, NM_182495.5:c.1321G>A, XM_011542604.3:c.1249G>A, XM_011542604.2:c.1249G>A, XM_011542604.1:c.1249G>A, XM_017017209.2:c.1249G>A, XM_017017209.1:c.1249G>A, XM_017017207.2:c.1249G>A, XM_017017207.1:c.1249G>A, XM_017017206.2:c.1297G>A, XM_017017206.1:c.1297G>A, NP_872301.2:p.Asp441Asn, XP_011540906.1:p.Asp417Asn, XP_016872698.1:p.Asp417Asn, XP_016872696.1:p.Asp417Asn, XP_016872695.1:p.Asp433Asn

Select item 14889279464.

rs1488927946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:114706649 (GRCh38)
11:114577371 (GRCh37)
Canonical SPDI:: NC_000011.10:114706648:A:G
Gene:: NXPE2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114706649A>G, NC_000011.9:g.114577371A>G, NM_182495.6:c.1399A>G, NM_182495.5:c.1399A>G, XM_011542604.3:c.1327A>G, XM_011542604.2:c.1327A>G, XM_011542604.1:c.1327A>G, XM_017017209.2:c.1327A>G, XM_017017209.1:c.1327A>G, XM_017017207.2:c.1327A>G, XM_017017207.1:c.1327A>G, XM_017017206.2:c.1375A>G, XM_017017206.1:c.1375A>G, NP_872301.2:p.Ile467Val, XP_011540906.1:p.Ile443Val, XP_016872698.1:p.Ile443Val, XP_016872696.1:p.Ile443Val, XP_016872695.1:p.Ile459Val

Select item 14846240845.

rs1484624084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:114698486 (GRCh38)
11:114569208 (GRCh37)
Canonical SPDI:: NC_000011.10:114698485:C:T
Gene:: NXPE2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000011.10:g.114698486C>T, NC_000011.9:g.114569208C>T, NM_182495.6:c.574C>T, NM_182495.5:c.574C>T, XM_011542604.3:c.502C>T, XM_011542604.2:c.502C>T, XM_011542604.1:c.502C>T, XM_017017209.2:c.502C>T, XM_017017209.1:c.502C>T, XM_017017207.2:c.502C>T, XM_017017207.1:c.502C>T, XM_017017206.2:c.550C>T, XM_017017206.1:c.550C>T, XM_017017212.2:c.574C>T, XM_017017212.1:c.574C>T, XM_017017211.2:c.574C>T, XM_017017211.1:c.574C>T, XR_001747769.2:n.623C>T, XR_001747769.1:n.641C>T

Select item 14845555996.

rs1484555599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:114706488 (GRCh38)
11:114577210 (GRCh37)
Canonical SPDI:: NC_000011.10:114706487:A:G
Gene:: NXPE2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.114706488A>G, NC_000011.9:g.114577210A>G, NM_182495.6:c.1238A>G, NM_182495.5:c.1238A>G, XM_011542604.3:c.1166A>G, XM_011542604.2:c.1166A>G, XM_011542604.1:c.1166A>G, XM_017017209.2:c.1166A>G, XM_017017209.1:c.1166A>G, XM_017017207.2:c.1166A>G, XM_017017207.1:c.1166A>G, XM_017017206.2:c.1214A>G, XM_017017206.1:c.1214A>G, NP_872301.2:p.His413Arg, XP_011540906.1:p.His389Arg, XP_016872698.1:p.His389Arg, XP_016872696.1:p.His389Arg, XP_016872695.1:p.His405Arg

Select item 14824298267.

rs1482429826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:114698700 (GRCh38)
11:114569422 (GRCh37)
Canonical SPDI:: NC_000011.10:114698699:G:C,NC_000011.10:114698699:G:T
Gene:: NXPE2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.114698700G>C, NC_000011.10:g.114698700G>T, NC_000011.9:g.114569422G>C, NC_000011.9:g.114569422G>T, NM_182495.6:c.788G>C, NM_182495.6:c.788G>T, NM_182495.5:c.788G>C, NM_182495.5:c.788G>T, XM_011542604.3:c.716G>C, XM_011542604.3:c.716G>T, XM_011542604.2:c.716G>C, XM_011542604.2:c.716G>T, XM_011542604.1:c.716G>C, XM_011542604.1:c.716G>T, XM_017017209.2:c.716G>C, XM_017017209.2:c.716G>T, XM_017017209.1:c.716G>C, XM_017017209.1:c.716G>T, XM_017017207.2:c.716G>C, XM_017017207.2:c.716G>T, XM_017017207.1:c.716G>C, XM_017017207.1:c.716G>T, XM_017017206.2:c.764G>C, XM_017017206.2:c.764G>T, XM_017017206.1:c.764G>C, XM_017017206.1:c.764G>T, XM_017017212.2:c.788G>C, XM_017017212.2:c.788G>T, XM_017017212.1:c.788G>C, XM_017017212.1:c.788G>T, XM_017017211.2:c.788G>C, XM_017017211.2:c.788G>T, XM_017017211.1:c.788G>C, XM_017017211.1:c.788G>T, XR_001747769.2:n.837G>C, XR_001747769.2:n.837G>T, XR_001747769.1:n.855G>C, XR_001747769.1:n.855G>T, NP_872301.2:p.Cys263Ser, NP_872301.2:p.Cys263Phe, XP_011540906.1:p.Cys239Ser, XP_011540906.1:p.Cys239Phe, XP_016872698.1:p.Cys239Ser, XP_016872698.1:p.Cys239Phe, XP_016872696.1:p.Cys239Ser, XP_016872696.1:p.Cys239Phe, XP_016872695.1:p.Cys255Ser, XP_016872695.1:p.Cys255Phe, XP_016872701.1:p.Cys263Ser, XP_016872701.1:p.Cys263Phe, XP_016872700.1:p.Cys263Ser, XP_016872700.1:p.Cys263Phe

Select item 14799402768.

rs1479940276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:114706565 (GRCh38)
11:114577287 (GRCh37)
Canonical SPDI:: NC_000011.10:114706564:G:T
Gene:: NXPE2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.114706565G>T, NC_000011.9:g.114577287G>T, NM_182495.6:c.1315G>T, NM_182495.5:c.1315G>T, XM_011542604.3:c.1243G>T, XM_011542604.2:c.1243G>T, XM_011542604.1:c.1243G>T, XM_017017209.2:c.1243G>T, XM_017017209.1:c.1243G>T, XM_017017207.2:c.1243G>T, XM_017017207.1:c.1243G>T, XM_017017206.2:c.1291G>T, XM_017017206.1:c.1291G>T, NP_872301.2:p.Ala439Ser, XP_011540906.1:p.Ala415Ser, XP_016872698.1:p.Ala415Ser, XP_016872696.1:p.Ala415Ser, XP_016872695.1:p.Ala431Ser

Select item 14772542149.

rs1477254214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:114706928 (GRCh38)
11:114577650 (GRCh37)
Canonical SPDI:: NC_000011.10:114706927:T:C,NC_000011.10:114706927:T:G
Gene:: NXPE2 (Varview)
Functional Consequence:: stop_lost,intron_variant,terminator_codon_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_000011.10:g.114706928T>C, NC_000011.10:g.114706928T>G, NC_000011.9:g.114577650T>C, NC_000011.9:g.114577650T>G, NM_182495.6:c.1678T>C, NM_182495.6:c.1678T>G, NM_182495.5:c.1678T>C, NM_182495.5:c.1678T>G, XM_011542604.3:c.1606T>C, XM_011542604.3:c.1606T>G, XM_011542604.2:c.1606T>C, XM_011542604.2:c.1606T>G, XM_011542604.1:c.1606T>C, XM_011542604.1:c.1606T>G, XM_017017209.2:c.1606T>C, XM_017017209.2:c.1606T>G, XM_017017209.1:c.1606T>C, XM_017017209.1:c.1606T>G, XM_017017207.2:c.1606T>C, XM_017017207.2:c.1606T>G, XM_017017207.1:c.1606T>C, XM_017017207.1:c.1606T>G, XM_017017206.2:c.1654T>C, XM_017017206.2:c.1654T>G, XM_017017206.1:c.1654T>C, XM_017017206.1:c.1654T>G, NP_872301.2:p.Ter560Gln, NP_872301.2:p.Ter560Glu, XP_011540906.1:p.Ter536Gln, XP_011540906.1:p.Ter536Glu, XP_016872698.1:p.Ter536Gln, XP_016872698.1:p.Ter536Glu, XP_016872696.1:p.Ter536Gln, XP_016872696.1:p.Ter536Glu, XP_016872695.1:p.Ter552Gln, XP_016872695.1:p.Ter552Glu

Select item 147529790810.

rs1475297908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:114705806 (GRCh38)
11:114576528 (GRCh37)
Canonical SPDI:: NC_000011.10:114705805:C:T
Gene:: NXPE2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.114705806C>T, NC_000011.9:g.114576528C>T, NM_182495.6:c.954C>T, NM_182495.5:c.954C>T, XM_011542604.3:c.882C>T, XM_011542604.2:c.882C>T, XM_011542604.1:c.882C>T, XM_017017209.2:c.882C>T, XM_017017209.1:c.882C>T, XM_017017207.2:c.882C>T, XM_017017207.1:c.882C>T, XM_017017206.2:c.930C>T, XM_017017206.1:c.930C>T, XM_017017212.2:c.954C>T, XM_017017212.1:c.954C>T, XM_017017211.2:c.954C>T, XM_017017211.1:c.954C>T, XR_001747769.2:n.1003C>T, XR_001747769.1:n.1021C>T

Select item 147279517511.

rs1472795175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:114698382 (GRCh38)
11:114569104 (GRCh37)
Canonical SPDI:: NC_000011.10:114698381:C:T
Gene:: NXPE2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.114698382C>T, NC_000011.9:g.114569104C>T, NM_182495.6:c.470C>T, NM_182495.5:c.470C>T, XM_011542604.3:c.398C>T, XM_011542604.2:c.398C>T, XM_011542604.1:c.398C>T, XM_017017209.2:c.398C>T, XM_017017209.1:c.398C>T, XM_017017207.2:c.398C>T, XM_017017207.1:c.398C>T, XM_017017206.2:c.446C>T, XM_017017206.1:c.446C>T, XM_017017212.2:c.470C>T, XM_017017212.1:c.470C>T, XM_017017211.2:c.470C>T, XM_017017211.1:c.470C>T, XR_001747769.2:n.519C>T, XR_001747769.1:n.537C>T, NP_872301.2:p.Thr157Ile, XP_011540906.1:p.Thr133Ile, XP_016872698.1:p.Thr133Ile, XP_016872696.1:p.Thr133Ile, XP_016872695.1:p.Thr149Ile, XP_016872701.1:p.Thr157Ile, XP_016872700.1:p.Thr157Ile

Select item 147132447212.

rs1471324472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:114698283 (GRCh38)
11:114569005 (GRCh37)
Canonical SPDI:: NC_000011.10:114698282:G:A
Gene:: NXPE2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.114698283G>A, NC_000011.9:g.114569005G>A, NM_182495.6:c.371G>A, NM_182495.5:c.371G>A, XM_011542604.3:c.299G>A, XM_011542604.2:c.299G>A, XM_011542604.1:c.299G>A, XM_017017209.2:c.299G>A, XM_017017209.1:c.299G>A, XM_017017207.2:c.299G>A, XM_017017207.1:c.299G>A, XM_017017206.2:c.347G>A, XM_017017206.1:c.347G>A, XM_017017212.2:c.371G>A, XM_017017212.1:c.371G>A, XM_017017211.2:c.371G>A, XM_017017211.1:c.371G>A, XR_001747769.2:n.420G>A, XR_001747769.1:n.438G>A, NP_872301.2:p.Cys124Tyr, XP_011540906.1:p.Cys100Tyr, XP_016872698.1:p.Cys100Tyr, XP_016872696.1:p.Cys100Tyr, XP_016872695.1:p.Cys116Tyr, XP_016872701.1:p.Cys124Tyr, XP_016872700.1:p.Cys124Tyr

Select item 147059407113.

rs1470594071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:114706449 (GRCh38)
11:114577171 (GRCh37)
Canonical SPDI:: NC_000011.10:114706448:T:C
Gene:: NXPE2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.114706449T>C, NC_000011.9:g.114577171T>C, NM_182495.6:c.1199T>C, NM_182495.5:c.1199T>C, XM_011542604.3:c.1127T>C, XM_011542604.2:c.1127T>C, XM_011542604.1:c.1127T>C, XM_017017209.2:c.1127T>C, XM_017017209.1:c.1127T>C, XM_017017207.2:c.1127T>C, XM_017017207.1:c.1127T>C, XM_017017206.2:c.1175T>C, XM_017017206.1:c.1175T>C, NP_872301.2:p.Leu400Pro, XP_011540906.1:p.Leu376Pro, XP_016872698.1:p.Leu376Pro, XP_016872696.1:p.Leu376Pro, XP_016872695.1:p.Leu392Pro

Select item 147046657914.

rs1470466579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:114698275 (GRCh38)
11:114568997 (GRCh37)
Canonical SPDI:: NC_000011.10:114698274:T:A,NC_000011.10:114698274:T:C
Gene:: NXPE2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.114698275T>A, NC_000011.10:g.114698275T>C, NC_000011.9:g.114568997T>A, NC_000011.9:g.114568997T>C, NM_182495.6:c.363T>A, NM_182495.6:c.363T>C, NM_182495.5:c.363T>A, NM_182495.5:c.363T>C, XM_011542604.3:c.291T>A, XM_011542604.3:c.291T>C, XM_011542604.2:c.291T>A, XM_011542604.2:c.291T>C, XM_011542604.1:c.291T>A, XM_011542604.1:c.291T>C, XM_017017209.2:c.291T>A, XM_017017209.2:c.291T>C, XM_017017209.1:c.291T>A, XM_017017209.1:c.291T>C, XM_017017207.2:c.291T>A, XM_017017207.2:c.291T>C, XM_017017207.1:c.291T>A, XM_017017207.1:c.291T>C, XM_017017206.2:c.339T>A, XM_017017206.2:c.339T>C, XM_017017206.1:c.339T>A, XM_017017206.1:c.339T>C, XM_017017212.2:c.363T>A, XM_017017212.2:c.363T>C, XM_017017212.1:c.363T>A, XM_017017212.1:c.363T>C, XM_017017211.2:c.363T>A, XM_017017211.2:c.363T>C, XM_017017211.1:c.363T>A, XM_017017211.1:c.363T>C, XR_001747769.2:n.412T>A, XR_001747769.2:n.412T>C, XR_001747769.1:n.430T>A, XR_001747769.1:n.430T>C, NP_872301.2:p.Asp121Glu, XP_011540906.1:p.Asp97Glu, XP_016872698.1:p.Asp97Glu, XP_016872696.1:p.Asp97Glu, XP_016872695.1:p.Asp113Glu, XP_016872701.1:p.Asp121Glu, XP_016872700.1:p.Asp121Glu

Select item 146958380015.

rs1469583800 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:114704026 (GRCh38)
11:114574748 (GRCh37)
Canonical SPDI:: NC_000011.10:114704025:CCCCC:CCCC
Gene:: NXPE2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.114704030del, NC_000011.9:g.114574752del, NM_182495.6:c.906del, NM_182495.5:c.906del, XM_011542604.3:c.834del, XM_011542604.2:c.834del, XM_011542604.1:c.834del, XM_017017209.2:c.834del, XM_017017209.1:c.834del, XM_017017207.2:c.834del, XM_017017207.1:c.834del, XM_017017206.2:c.882del, XM_017017206.1:c.882del, XM_017017212.2:c.906del, XM_017017212.1:c.906del, XM_017017211.2:c.906del, XM_017017211.1:c.906del, XR_001747769.2:n.955del, XR_001747769.1:n.973del, NP_872301.2:p.Ile303fs, XP_011540906.1:p.Ile279fs, XP_016872698.1:p.Ile279fs, XP_016872696.1:p.Ile279fs, XP_016872695.1:p.Ile295fs, XP_016872701.1:p.Ile303fs, XP_016872700.1:p.Ile303fs

Select item 146931107516.

rs1469311075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:114698574 (GRCh38)
11:114569296 (GRCh37)
Canonical SPDI:: NC_000011.10:114698573:C:T
Gene:: NXPE2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.114698574C>T, NC_000011.9:g.114569296C>T, NM_182495.6:c.662C>T, NM_182495.5:c.662C>T, XM_011542604.3:c.590C>T, XM_011542604.2:c.590C>T, XM_011542604.1:c.590C>T, XM_017017209.2:c.590C>T, XM_017017209.1:c.590C>T, XM_017017207.2:c.590C>T, XM_017017207.1:c.590C>T, XM_017017206.2:c.638C>T, XM_017017206.1:c.638C>T, XM_017017212.2:c.662C>T, XM_017017212.1:c.662C>T, XM_017017211.2:c.662C>T, XM_017017211.1:c.662C>T, XR_001747769.2:n.711C>T, XR_001747769.1:n.729C>T, NP_872301.2:p.Ala221Val, XP_011540906.1:p.Ala197Val, XP_016872698.1:p.Ala197Val, XP_016872696.1:p.Ala197Val, XP_016872695.1:p.Ala213Val, XP_016872701.1:p.Ala221Val, XP_016872700.1:p.Ala221Val

Select item 146919346017.

rs1469193460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:114706835 (GRCh38)
11:114577557 (GRCh37)
Canonical SPDI:: NC_000011.10:114706834:T:C
Gene:: NXPE2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114706835T>C, NC_000011.9:g.114577557T>C, NM_182495.6:c.1585T>C, NM_182495.5:c.1585T>C, XM_011542604.3:c.1513T>C, XM_011542604.2:c.1513T>C, XM_011542604.1:c.1513T>C, XM_017017209.2:c.1513T>C, XM_017017209.1:c.1513T>C, XM_017017207.2:c.1513T>C, XM_017017207.1:c.1513T>C, XM_017017206.2:c.1561T>C, XM_017017206.1:c.1561T>C, NP_872301.2:p.Trp529Arg, XP_011540906.1:p.Trp505Arg, XP_016872698.1:p.Trp505Arg, XP_016872696.1:p.Trp505Arg, XP_016872695.1:p.Trp521Arg

Select item 146560822018.

rs1465608220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:114679658 (GRCh38)
11:114550380 (GRCh37)
Canonical SPDI:: NC_000011.10:114679657:A:C,NC_000011.10:114679657:A:G
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.114679658A>C, NC_000011.10:g.114679658A>G, NC_000011.9:g.114550380A>C, NC_000011.9:g.114550380A>G, NM_182495.6:c.28A>C, NM_182495.6:c.28A>G, NM_182495.5:c.28A>C, NM_182495.5:c.28A>G, XM_011542604.3:c.-45A>C, XM_011542604.3:c.-45A>G, XM_011542604.2:c.-45A>C, XM_011542604.2:c.-45A>G, XM_011542604.1:c.-45A>C, XM_011542604.1:c.-45A>G, XM_017017209.2:c.-45A>C, XM_017017209.2:c.-45A>G, XM_017017209.1:c.-45A>C, XM_017017209.1:c.-45A>G, XM_017017207.2:c.-45A>C, XM_017017207.2:c.-45A>G, XM_017017207.1:c.-45A>C, XM_017017207.1:c.-45A>G, XM_017017206.2:c.4A>C, XM_017017206.2:c.4A>G, XM_017017206.1:c.4A>C, XM_017017206.1:c.4A>G, XM_017017212.2:c.28A>C, XM_017017212.2:c.28A>G, XM_017017212.1:c.28A>C, XM_017017212.1:c.28A>G, XM_017017211.2:c.28A>C, XM_017017211.2:c.28A>G, XM_017017211.1:c.28A>C, XM_017017211.1:c.28A>G, XR_001747769.2:n.77A>C, XR_001747769.2:n.77A>G, XR_001747769.1:n.95A>C, XR_001747769.1:n.95A>G, NP_872301.2:p.Ile10Leu, NP_872301.2:p.Ile10Val, XP_016872695.1:p.Ile2Leu, XP_016872695.1:p.Ile2Val, XP_016872701.1:p.Ile10Leu, XP_016872701.1:p.Ile10Val, XP_016872700.1:p.Ile10Leu, XP_016872700.1:p.Ile10Val

Select item 146426869519.

rs1464268695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:114678581 (GRCh38)
11:114549303 (GRCh37)
Canonical SPDI:: NC_000011.10:114678580:G:A
Gene:: NXPE4 (Varview), NXPE2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.114678581G>A, NC_000011.9:g.114549303G>A, NM_182495.6:c.6G>A, NM_182495.5:c.6G>A, XM_017017212.2:c.6G>A, XM_017017212.1:c.6G>A, XM_017017211.2:c.6G>A, XM_017017211.1:c.6G>A, XR_001747769.2:n.55G>A, XR_001747769.1:n.73G>A

Select item 146384679620.

rs1463846796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:114705914 (GRCh38)
11:114576636 (GRCh37)
Canonical SPDI:: NC_000011.10:114705913:C:G
Gene:: NXPE2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.114705914C>G, NC_000011.9:g.114576636C>G, NM_182495.6:c.1062C>G, NM_182495.5:c.1062C>G, XM_011542604.3:c.990C>G, XM_011542604.2:c.990C>G, XM_011542604.1:c.990C>G, XM_017017209.2:c.990C>G, XM_017017209.1:c.990C>G, XM_017017207.2:c.990C>G, XM_017017207.1:c.990C>G, XM_017017206.2:c.1038C>G, XM_017017206.1:c.1038C>G, XM_017017212.2:c.1062C>G, XM_017017212.1:c.1062C>G, XM_017017211.2:c.1062C>G, XM_017017211.1:c.1062C>G, XR_001747769.2:n.1111C>G, XR_001747769.1:n.1129C>G, NP_872301.2:p.Asp354Glu, XP_011540906.1:p.Asp330Glu, XP_016872698.1:p.Asp330Glu, XP_016872696.1:p.Asp330Glu, XP_016872695.1:p.Asp346Glu, XP_016872701.1:p.Asp354Glu, XP_016872700.1:p.Asp354Glu

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