SNP Links for Protein (Select 586946374) - SNP

Links from Protein

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Select item 14895044721.

rs1489504472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:43877116 (GRCh38)
7:43916715 (GRCh37)
Canonical SPDI:: NC_000007.14:43877115:T:G
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43877116T>G, NC_000007.13:g.43916715T>G, NM_017920.5:c.2320A>C, NM_017920.4:c.2320A>C, NM_017920.3:c.2320A>C, NM_001077664.3:c.2218A>C, NM_001077664.2:c.2218A>C, NM_001077664.1:c.2218A>C, NM_001077663.3:c.2347A>C, NM_001077663.2:c.2347A>C, NM_001077663.1:c.2347A>C, NM_001290076.2:c.2218A>C, NM_001290076.1:c.2218A>C, NM_001290075.2:c.2218A>C, NM_001290075.1:c.2218A>C, NP_060390.3:p.Asn774His, NP_001071132.1:p.Asn740His, NP_001071131.1:p.Asn783His, NP_001277005.1:p.Asn740His, NP_001277004.1:p.Asn740His

Select item 14893201012.

rs1489320101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43879088 (GRCh38)
7:43918687 (GRCh37)
Canonical SPDI:: NC_000007.14:43879087:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43879088G>A, NC_000007.13:g.43918687G>A, NM_017920.5:c.348C>T, NM_017920.4:c.348C>T, NM_017920.3:c.348C>T, NM_001077664.3:c.246C>T, NM_001077664.2:c.246C>T, NM_001077664.1:c.246C>T, NM_001077663.3:c.375C>T, NM_001077663.2:c.375C>T, NM_001077663.1:c.375C>T, NM_001290076.2:c.246C>T, NM_001290076.1:c.246C>T, NM_001290075.2:c.246C>T, NM_001290075.1:c.246C>T

Select item 14867187633.

rs1486718763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43878916 (GRCh38)
7:43918515 (GRCh37)
Canonical SPDI:: NC_000007.14:43878915:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.43878916G>A, NC_000007.13:g.43918515G>A, NM_017920.5:c.520C>T, NM_017920.4:c.520C>T, NM_017920.3:c.520C>T, NM_001077664.3:c.418C>T, NM_001077664.2:c.418C>T, NM_001077664.1:c.418C>T, NM_001077663.3:c.547C>T, NM_001077663.2:c.547C>T, NM_001077663.1:c.547C>T, NM_001290076.2:c.418C>T, NM_001290076.1:c.418C>T, NM_001290075.2:c.418C>T, NM_001290075.1:c.418C>T, NP_060390.3:p.Pro174Ser, NP_001071132.1:p.Pro140Ser, NP_001071131.1:p.Pro183Ser, NP_001277005.1:p.Pro140Ser, NP_001277004.1:p.Pro140Ser

Select item 14833917064.

rs1483391706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:43878206 (GRCh38)
7:43917805 (GRCh37)
Canonical SPDI:: NC_000007.14:43878205:G:C
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000007.14:g.43878206G>C, NC_000007.13:g.43917805G>C, NM_017920.5:c.1230C>G, NM_017920.4:c.1230C>G, NM_017920.3:c.1230C>G, NM_001077664.3:c.1128C>G, NM_001077664.2:c.1128C>G, NM_001077664.1:c.1128C>G, NM_001077663.3:c.1257C>G, NM_001077663.2:c.1257C>G, NM_001077663.1:c.1257C>G, NM_001290076.2:c.1128C>G, NM_001290076.1:c.1128C>G, NM_001290075.2:c.1128C>G, NM_001290075.1:c.1128C>G

Select item 14829165525.

rs1482916552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43877913 (GRCh38)
7:43917512 (GRCh37)
Canonical SPDI:: NC_000007.14:43877912:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43877913G>A, NC_000007.13:g.43917512G>A, NM_017920.5:c.1523C>T, NM_017920.4:c.1523C>T, NM_017920.3:c.1523C>T, NM_001077664.3:c.1421C>T, NM_001077664.2:c.1421C>T, NM_001077664.1:c.1421C>T, NM_001077663.3:c.1550C>T, NM_001077663.2:c.1550C>T, NM_001077663.1:c.1550C>T, NM_001290076.2:c.1421C>T, NM_001290076.1:c.1421C>T, NM_001290075.2:c.1421C>T, NM_001290075.1:c.1421C>T, NP_060390.3:p.Ala508Val, NP_001071132.1:p.Ala474Val, NP_001071131.1:p.Ala517Val, NP_001277005.1:p.Ala474Val, NP_001277004.1:p.Ala474Val

Select item 14828006506.

rs1482800650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43877243 (GRCh38)
7:43916842 (GRCh37)
Canonical SPDI:: NC_000007.14:43877242:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.43877243G>A, NC_000007.13:g.43916842G>A, NM_017920.5:c.2193C>T, NM_017920.4:c.2193C>T, NM_017920.3:c.2193C>T, NM_001077664.3:c.2091C>T, NM_001077664.2:c.2091C>T, NM_001077664.1:c.2091C>T, NM_001077663.3:c.2220C>T, NM_001077663.2:c.2220C>T, NM_001077663.1:c.2220C>T, NM_001290076.2:c.2091C>T, NM_001290076.1:c.2091C>T, NM_001290075.2:c.2091C>T, NM_001290075.1:c.2091C>T

Select item 14827385827.

rs1482738582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:43877213 (GRCh38)
7:43916812 (GRCh37)
Canonical SPDI:: NC_000007.14:43877212:C:T
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: intron_variant,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_000007.14:g.43877213C>T, NC_000007.13:g.43916812C>T, NM_017920.5:c.2223G>A, NM_017920.4:c.2223G>A, NM_017920.3:c.2223G>A, NM_001077664.3:c.2121G>A, NM_001077664.2:c.2121G>A, NM_001077664.1:c.2121G>A, NM_001077663.3:c.2250G>A, NM_001077663.2:c.2250G>A, NM_001077663.1:c.2250G>A, NM_001290076.2:c.2121G>A, NM_001290076.1:c.2121G>A, NM_001290075.2:c.2121G>A, NM_001290075.1:c.2121G>A

Select item 14802675288.

rs1480267528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:43877470 (GRCh38)
7:43917069 (GRCh37)
Canonical SPDI:: NC_000007.14:43877469:C:T
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.43877470C>T, NC_000007.13:g.43917069C>T, NM_017920.5:c.1966G>A, NM_017920.4:c.1966G>A, NM_017920.3:c.1966G>A, NM_001077664.3:c.1864G>A, NM_001077664.2:c.1864G>A, NM_001077664.1:c.1864G>A, NM_001077663.3:c.1993G>A, NM_001077663.2:c.1993G>A, NM_001077663.1:c.1993G>A, NM_001290076.2:c.1864G>A, NM_001290076.1:c.1864G>A, NM_001290075.2:c.1864G>A, NM_001290075.1:c.1864G>A, NP_060390.3:p.Gly656Arg, NP_001071132.1:p.Gly622Arg, NP_001071131.1:p.Gly665Arg, NP_001277005.1:p.Gly622Arg, NP_001277004.1:p.Gly622Arg

Select item 14754544709.

rs1475454470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43877262 (GRCh38)
7:43916861 (GRCh37)
Canonical SPDI:: NC_000007.14:43877261:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.43877262G>A, NC_000007.13:g.43916861G>A, NM_017920.5:c.2174C>T, NM_017920.4:c.2174C>T, NM_017920.3:c.2174C>T, NM_001077664.3:c.2072C>T, NM_001077664.2:c.2072C>T, NM_001077664.1:c.2072C>T, NM_001077663.3:c.2201C>T, NM_001077663.2:c.2201C>T, NM_001077663.1:c.2201C>T, NM_001290076.2:c.2072C>T, NM_001290076.1:c.2072C>T, NM_001290075.2:c.2072C>T, NM_001290075.1:c.2072C>T, NP_060390.3:p.Thr725Ile, NP_001071132.1:p.Thr691Ile, NP_001071131.1:p.Thr734Ile, NP_001277005.1:p.Thr691Ile, NP_001277004.1:p.Thr691Ile

Select item 147471335110.

rs1474713351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43878653 (GRCh38)
7:43918252 (GRCh37)
Canonical SPDI:: NC_000007.14:43878652:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43878653G>A, NC_000007.13:g.43918252G>A, NM_017920.5:c.783C>T, NM_017920.4:c.783C>T, NM_017920.3:c.783C>T, NM_001077664.3:c.681C>T, NM_001077664.2:c.681C>T, NM_001077664.1:c.681C>T, NM_001077663.3:c.810C>T, NM_001077663.2:c.810C>T, NM_001077663.1:c.810C>T, NM_001290076.2:c.681C>T, NM_001290076.1:c.681C>T, NM_001290075.2:c.681C>T, NM_001290075.1:c.681C>T

Select item 147432232411.

rs1474322324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:43879128 (GRCh38)
7:43918727 (GRCh37)
Canonical SPDI:: NC_000007.14:43879127:T:C
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43879128T>C, NC_000007.13:g.43918727T>C, NM_017920.5:c.308A>G, NM_017920.4:c.308A>G, NM_017920.3:c.308A>G, NM_001077664.3:c.206A>G, NM_001077664.2:c.206A>G, NM_001077664.1:c.206A>G, NM_001077663.3:c.335A>G, NM_001077663.2:c.335A>G, NM_001077663.1:c.335A>G, NM_001290076.2:c.206A>G, NM_001290076.1:c.206A>G, NM_001290075.2:c.206A>G, NM_001290075.1:c.206A>G, NP_060390.3:p.Lys103Arg, NP_001071132.1:p.Lys69Arg, NP_001071131.1:p.Lys112Arg, NP_001277005.1:p.Lys69Arg, NP_001277004.1:p.Lys69Arg

Select item 147427481412.

rs1474274814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43878321 (GRCh38)
7:43917920 (GRCh37)
Canonical SPDI:: NC_000007.14:43878320:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43878321G>A, NC_000007.13:g.43917920G>A, NM_017920.5:c.1115C>T, NM_017920.4:c.1115C>T, NM_017920.3:c.1115C>T, NM_001077664.3:c.1013C>T, NM_001077664.2:c.1013C>T, NM_001077664.1:c.1013C>T, NM_001077663.3:c.1142C>T, NM_001077663.2:c.1142C>T, NM_001077663.1:c.1142C>T, NM_001290076.2:c.1013C>T, NM_001290076.1:c.1013C>T, NM_001290075.2:c.1013C>T, NM_001290075.1:c.1013C>T, NP_060390.3:p.Thr372Ile, NP_001071132.1:p.Thr338Ile, NP_001071131.1:p.Thr381Ile, NP_001277005.1:p.Thr338Ile, NP_001277004.1:p.Thr338Ile

Select item 147299247113.

rs1472992471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43877357 (GRCh38)
7:43916956 (GRCh37)
Canonical SPDI:: NC_000007.14:43877356:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.43877357G>A, NC_000007.13:g.43916956G>A, NM_017920.5:c.2079C>T, NM_017920.4:c.2079C>T, NM_017920.3:c.2079C>T, NM_001077664.3:c.1977C>T, NM_001077664.2:c.1977C>T, NM_001077664.1:c.1977C>T, NM_001077663.3:c.2106C>T, NM_001077663.2:c.2106C>T, NM_001077663.1:c.2106C>T, NM_001290076.2:c.1977C>T, NM_001290076.1:c.1977C>T, NM_001290075.2:c.1977C>T, NM_001290075.1:c.1977C>T

Select item 147298140614.

rs1472981406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:43879236 (GRCh38)
7:43918835 (GRCh37)
Canonical SPDI:: NC_000007.14:43879235:A:T
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.43879236A>T, NC_000007.13:g.43918835A>T, NM_017920.5:c.200T>A, NM_017920.4:c.200T>A, NM_017920.3:c.200T>A, NM_001077664.3:c.98T>A, NM_001077664.2:c.98T>A, NM_001077664.1:c.98T>A, NM_001077663.3:c.227T>A, NM_001077663.2:c.227T>A, NM_001077663.1:c.227T>A, NM_001290076.2:c.98T>A, NM_001290076.1:c.98T>A, NM_001290075.2:c.98T>A, NM_001290075.1:c.98T>A, NP_060390.3:p.Met67Lys, NP_001071132.1:p.Met33Lys, NP_001071131.1:p.Met76Lys, NP_001277005.1:p.Met33Lys, NP_001277004.1:p.Met33Lys

Select item 147207364815.

rs1472073648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:43877530 (GRCh38)
7:43917129 (GRCh37)
Canonical SPDI:: NC_000007.14:43877529:G:A,NC_000007.14:43877529:G:T
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.43877530G>A, NC_000007.14:g.43877530G>T, NC_000007.13:g.43917129G>A, NC_000007.13:g.43917129G>T, NM_017920.5:c.1906C>T, NM_017920.5:c.1906C>A, NM_017920.4:c.1906C>T, NM_017920.4:c.1906C>A, NM_017920.3:c.1906C>T, NM_017920.3:c.1906C>A, NM_001077664.3:c.1804C>T, NM_001077664.3:c.1804C>A, NM_001077664.2:c.1804C>T, NM_001077664.2:c.1804C>A, NM_001077664.1:c.1804C>T, NM_001077664.1:c.1804C>A, NM_001077663.3:c.1933C>T, NM_001077663.3:c.1933C>A, NM_001077663.2:c.1933C>T, NM_001077663.2:c.1933C>A, NM_001077663.1:c.1933C>T, NM_001077663.1:c.1933C>A, NM_001290076.2:c.1804C>T, NM_001290076.2:c.1804C>A, NM_001290076.1:c.1804C>T, NM_001290076.1:c.1804C>A, NM_001290075.2:c.1804C>T, NM_001290075.2:c.1804C>A, NM_001290075.1:c.1804C>T, NM_001290075.1:c.1804C>A, NP_060390.3:p.His636Tyr, NP_060390.3:p.His636Asn, NP_001071132.1:p.His602Tyr, NP_001071132.1:p.His602Asn, NP_001071131.1:p.His645Tyr, NP_001071131.1:p.His645Asn, NP_001277005.1:p.His602Tyr, NP_001277005.1:p.His602Asn, NP_001277004.1:p.His602Tyr, NP_001277004.1:p.His602Asn

Select item 146943824116.

rs1469438241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:43879237 (GRCh38)
7:43918836 (GRCh37)
Canonical SPDI:: NC_000007.14:43879236:T:C
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43879237T>C, NC_000007.13:g.43918836T>C, NM_017920.5:c.199A>G, NM_017920.4:c.199A>G, NM_017920.3:c.199A>G, NM_001077664.3:c.97A>G, NM_001077664.2:c.97A>G, NM_001077664.1:c.97A>G, NM_001077663.3:c.226A>G, NM_001077663.2:c.226A>G, NM_001077663.1:c.226A>G, NM_001290076.2:c.97A>G, NM_001290076.1:c.97A>G, NM_001290075.2:c.97A>G, NM_001290075.1:c.97A>G, NP_060390.3:p.Met67Val, NP_001071132.1:p.Met33Val, NP_001071131.1:p.Met76Val, NP_001277005.1:p.Met33Val, NP_001277004.1:p.Met33Val

Select item 146832657717.

rs1468326577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:43878985 (GRCh38)
7:43918584 (GRCh37)
Canonical SPDI:: NC_000007.14:43878984:G:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43878985G>A, NC_000007.13:g.43918584G>A, NM_017920.5:c.451C>T, NM_017920.4:c.451C>T, NM_017920.3:c.451C>T, NM_001077664.3:c.349C>T, NM_001077664.2:c.349C>T, NM_001077664.1:c.349C>T, NM_001077663.3:c.478C>T, NM_001077663.2:c.478C>T, NM_001077663.1:c.478C>T, NM_001290076.2:c.349C>T, NM_001290076.1:c.349C>T, NM_001290075.2:c.349C>T, NM_001290075.1:c.349C>T, NP_060390.3:p.Pro151Ser, NP_001071132.1:p.Pro117Ser, NP_001071131.1:p.Pro160Ser, NP_001277005.1:p.Pro117Ser, NP_001277004.1:p.Pro117Ser

Select item 146771497118.

rs1467714971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:43876937 (GRCh38)
7:43916536 (GRCh37)
Canonical SPDI:: NC_000007.14:43876936:A:G
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.43876937A>G, NC_000007.13:g.43916536A>G, NM_017920.5:c.2499T>C, NM_017920.4:c.2499T>C, NM_017920.3:c.2499T>C, NM_001077664.3:c.2397T>C, NM_001077664.2:c.2397T>C, NM_001077664.1:c.2397T>C, NM_001077663.3:c.2526T>C, NM_001077663.2:c.2526T>C, NM_001077663.1:c.2526T>C, NM_001290076.2:c.2397T>C, NM_001290076.1:c.2397T>C, NM_001290075.2:c.2397T>C, NM_001290075.1:c.2397T>C

Select item 146714234119.

rs1467142341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:43878326 (GRCh38)
7:43917925 (GRCh37)
Canonical SPDI:: NC_000007.14:43878325:T:A
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.43878326T>A, NC_000007.13:g.43917925T>A, NM_017920.5:c.1110A>T, NM_017920.4:c.1110A>T, NM_017920.3:c.1110A>T, NM_001077664.3:c.1008A>T, NM_001077664.2:c.1008A>T, NM_001077664.1:c.1008A>T, NM_001077663.3:c.1137A>T, NM_001077663.2:c.1137A>T, NM_001077663.1:c.1137A>T, NM_001290076.2:c.1008A>T, NM_001290076.1:c.1008A>T, NM_001290075.2:c.1008A>T, NM_001290075.1:c.1008A>T

Select item 146410659020.

rs1464106590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:43877441 (GRCh38)
7:43917040 (GRCh37)
Canonical SPDI:: NC_000007.14:43877440:C:A,NC_000007.14:43877440:C:T
Gene:: URGCP (Varview), URGCP-MRPS24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.43877441C>A, NC_000007.14:g.43877441C>T, NC_000007.13:g.43917040C>A, NC_000007.13:g.43917040C>T, NM_017920.5:c.1995G>T, NM_017920.5:c.1995G>A, NM_017920.4:c.1995G>T, NM_017920.4:c.1995G>A, NM_017920.3:c.1995G>T, NM_017920.3:c.1995G>A, NM_001077664.3:c.1893G>T, NM_001077664.3:c.1893G>A, NM_001077664.2:c.1893G>T, NM_001077664.2:c.1893G>A, NM_001077664.1:c.1893G>T, NM_001077664.1:c.1893G>A, NM_001077663.3:c.2022G>T, NM_001077663.3:c.2022G>A, NM_001077663.2:c.2022G>T, NM_001077663.2:c.2022G>A, NM_001077663.1:c.2022G>T, NM_001077663.1:c.2022G>A, NM_001290076.2:c.1893G>T, NM_001290076.2:c.1893G>A, NM_001290076.1:c.1893G>T, NM_001290076.1:c.1893G>A, NM_001290075.2:c.1893G>T, NM_001290075.2:c.1893G>A, NM_001290075.1:c.1893G>T, NM_001290075.1:c.1893G>A, NP_060390.3:p.Trp665Cys, NP_060390.3:p.Trp665Ter, NP_001071132.1:p.Trp631Cys, NP_001071132.1:p.Trp631Ter, NP_001071131.1:p.Trp674Cys, NP_001071131.1:p.Trp674Ter, NP_001277005.1:p.Trp631Cys, NP_001277005.1:p.Trp631Ter, NP_001277004.1:p.Trp631Cys, NP_001277004.1:p.Trp631Ter

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