SNP Links for Protein (Select 149274614) - SNP

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Links from Protein

Items: 10

Select item 8689464641.

rs868946464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:52191759 (GRCh38)
X:51934855 (GRCh37)
Canonical SPDI:: NC_000023.11:52191758:A:G
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00009/3 (GnomAD_exomes)
G=0.00926/1 (Qatari)
HGVS:: NC_000023.11:g.52191759A>G, NW_004070877.1:g.1904874A>G, NC_000023.10:g.51934855A>G, NM_001098800.3:c.2114A>G, NM_001098800.2:c.2114A>G, NM_001272061.2:c.2162A>G, NM_001272061.1:c.2162A>G, NM_001272063.2:c.2114A>G, NM_001272063.1:c.2114A>G, NM_001272062.2:c.2114A>G, NM_001272062.1:c.2114A>G, NP_001092270.1:p.Asn705Ser, NP_001258990.1:p.Asn721Ser, NP_001258992.1:p.Asn705Ser, NP_001258991.1:p.Asn705Ser

Select item 7827245752.

rs782724575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:52191840 (GRCh38)
X:51934936 (GRCh37)
Canonical SPDI:: NC_000023.11:52191839:C:G
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0001/1 (ALFA)
G=0.0009/2 (ExAC)
HGVS:: NC_000023.11:g.52191840C>G, NW_004070877.1:g.1904955C>G, NC_000023.10:g.51934936C>G, NM_001098800.3:c.2195C>G, NM_001098800.2:c.2195C>G, NM_001272061.2:c.2243C>G, NM_001272061.1:c.2243C>G, NM_001272063.2:c.2195C>G, NM_001272063.1:c.2195C>G, NM_001272062.2:c.2195C>G, NM_001272062.1:c.2195C>G, NP_001092270.1:p.Ala732Gly, NP_001258990.1:p.Ala748Gly, NP_001258992.1:p.Ala732Gly, NP_001258991.1:p.Ala732Gly

Select item 7823945473.

rs782394547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52191779 (GRCh38)
X:51934875 (GRCh37)
Canonical SPDI:: NC_000023.11:52191778:G:A
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0011/10 (ALFA)
A=0.0028/2 (ExAC)
A=0.0093/1 (Qatari)
HGVS:: NC_000023.11:g.52191779G>A, NW_004070877.1:g.1904894G>A, NC_000023.10:g.51934875G>A, NM_001098800.3:c.2134G>A, NM_001098800.2:c.2134G>A, NM_001272061.2:c.2182G>A, NM_001272061.1:c.2182G>A, NM_001272063.2:c.2134G>A, NM_001272063.1:c.2134G>A, NM_001272062.2:c.2134G>A, NM_001272062.1:c.2134G>A, NP_001092270.1:p.Val712Ile, NP_001258990.1:p.Val728Ile, NP_001258992.1:p.Val712Ile, NP_001258991.1:p.Val712Ile

Select item 7822031034.

rs782203103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:52191742 (GRCh38)
X:51934838 (GRCh37)
Canonical SPDI:: NC_000023.11:52191741:C:G,NC_000023.11:52191741:C:T
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0007/6 (ALFA)
G=0.3333/2 (SGDP_PRJ)
HGVS:: NC_000023.11:g.52191742C>G, NC_000023.11:g.52191742C>T, NW_004070877.1:g.1904857C>G, NW_004070877.1:g.1904857C>T, NC_000023.10:g.51934838C>G, NC_000023.10:g.51934838C>T, NM_001098800.3:c.2097C>G, NM_001098800.3:c.2097C>T, NM_001098800.2:c.2097C>G, NM_001098800.2:c.2097C>T, NM_001272061.2:c.2145C>G, NM_001272061.2:c.2145C>T, NM_001272061.1:c.2145C>G, NM_001272061.1:c.2145C>T, NM_001272063.2:c.2097C>G, NM_001272063.2:c.2097C>T, NM_001272063.1:c.2097C>G, NM_001272063.1:c.2097C>T, NM_001272062.2:c.2097C>G, NM_001272062.2:c.2097C>T, NM_001272062.1:c.2097C>G, NM_001272062.1:c.2097C>T

Select item 7821493925.

rs782149392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:52191770 (GRCh38)
X:51934866 (GRCh37)
Canonical SPDI:: NC_000023.11:52191769:A:G
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.002/1 (ExAC)
HGVS:: NC_000023.11:g.52191770A>G, NW_004070877.1:g.1904885A>G, NC_000023.10:g.51934866A>G, NM_001098800.3:c.2125A>G, NM_001098800.2:c.2125A>G, NM_001272061.2:c.2173A>G, NM_001272061.1:c.2173A>G, NM_001272063.2:c.2125A>G, NM_001272063.1:c.2125A>G, NM_001272062.2:c.2125A>G, NM_001272062.1:c.2125A>G, NP_001092270.1:p.Ser709Gly, NP_001258990.1:p.Ser725Gly, NP_001258992.1:p.Ser709Gly, NP_001258991.1:p.Ser709Gly

Select item 7820894846.

rs782089484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:52191828 (GRCh38)
X:51934924 (GRCh37)
Canonical SPDI:: NC_000023.11:52191827:C:G
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00011/1 (ALFA)
G=0.00121/78 (GnomAD_exomes)
G=0.00485/7 (ExAC)
HGVS:: NC_000023.11:g.52191828C>G, NW_004070877.1:g.1904943C>G, NC_000023.10:g.51934924C>G, NM_001098800.3:c.2183C>G, NM_001098800.2:c.2183C>G, NM_001272061.2:c.2231C>G, NM_001272061.1:c.2231C>G, NM_001272063.2:c.2183C>G, NM_001272063.1:c.2183C>G, NM_001272062.2:c.2183C>G, NM_001272062.1:c.2183C>G, NP_001092270.1:p.Ala728Gly, NP_001258990.1:p.Ala744Gly, NP_001258992.1:p.Ala728Gly, NP_001258991.1:p.Ala728Gly

Select item 7820421567.

rs782042156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52191743 (GRCh38)
X:51934839 (GRCh37)
Canonical SPDI:: NC_000023.11:52191742:G:A
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00009/3 (GnomAD_exomes)
A=0.00226/1 (ExAC)
HGVS:: NC_000023.11:g.52191743G>A, NW_004070877.1:g.1904858G>A, NC_000023.10:g.51934839G>A, NM_001098800.3:c.2098G>A, NM_001098800.2:c.2098G>A, NM_001272061.2:c.2146G>A, NM_001272061.1:c.2146G>A, NM_001272063.2:c.2098G>A, NM_001272063.1:c.2098G>A, NM_001272062.2:c.2098G>A, NM_001272062.1:c.2098G>A, NP_001092270.1:p.Val700Ile, NP_001258990.1:p.Val716Ile, NP_001258992.1:p.Val700Ile, NP_001258991.1:p.Val700Ile

Select item 7819925798.

rs781992579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:52191813 (GRCh38)
X:51934909 (GRCh37)
Canonical SPDI:: NC_000023.11:52191812:G:A
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/1 (GnomAD_exomes)
A=0.00078/1 (ExAC)
HGVS:: NC_000023.11:g.52191813G>A, NW_004070877.1:g.1904928G>A, NC_000023.10:g.51934909G>A, NM_001098800.3:c.2168G>A, NM_001098800.2:c.2168G>A, NM_001272061.2:c.2216G>A, NM_001272061.1:c.2216G>A, NM_001272063.2:c.2168G>A, NM_001272063.1:c.2168G>A, NM_001272062.2:c.2168G>A, NM_001272062.1:c.2168G>A, NP_001092270.1:p.Arg723Gln, NP_001258990.1:p.Arg739Gln, NP_001258992.1:p.Arg723Gln, NP_001258991.1:p.Arg723Gln

Select item 7819323119.

rs781932311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:52191842 (GRCh38)
X:51934938 (GRCh37)
Canonical SPDI:: NC_000023.11:52191841:A:G
Gene:: MAGED4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0001/1 (ALFA)
G=0.0004/1 (ExAC)
HGVS:: NC_000023.11:g.52191842A>G, NW_004070877.1:g.1904957A>G, NC_000023.10:g.51934938A>G, NM_001098800.3:c.2197A>G, NM_001098800.2:c.2197A>G, NM_001272061.2:c.2245A>G, NM_001272061.1:c.2245A>G, NM_001272063.2:c.2197A>G, NM_001272063.1:c.2197A>G, NM_001272062.2:c.2197A>G, NM_001272062.1:c.2197A>G, NP_001092270.1:p.Ser733Gly, NP_001258990.1:p.Ser749Gly, NP_001258992.1:p.Ser733Gly, NP_001258991.1:p.Ser733Gly

Select item 20165323110.

rs201653231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:52186117 (GRCh38)
X:51929213 (GRCh37)
Canonical SPDI:: NC_000023.11:52186116:C:T
Gene:: MAGED4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.52186117C>T, NW_004070877.1:g.1899232C>T, NC_000023.10:g.51929213C>T, NM_001098800.3:c.195C>T, NM_001098800.2:c.195C>T, NM_001272061.2:c.195C>T, NM_001272061.1:c.195C>T, NM_001272063.2:c.195C>T, NM_001272063.1:c.195C>T, NM_001272062.2:c.195C>T, NM_001272062.1:c.195C>T

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SNP Links for Protein (Select 149274614) (10)
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