SNP Links for Protein (Select 518830597) - SNP

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Links from Protein

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Select item 14864780631.

rs1486478063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:100096079 (GRCh38)
7:99693702 (GRCh37)
Canonical SPDI:: NC_000007.14:100096078:C:A
Gene:: MCM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.100096079C>A, NC_000007.13:g.99693702C>A, NM_005916.5:c.1290G>T, NM_005916.4:c.1290G>T, XM_005250348.4:c.969G>T, XM_005250348.3:c.969G>T, XM_005250348.2:c.969G>T, XM_005250348.1:c.969G>T, NM_182776.3:c.762G>T, NM_182776.2:c.762G>T, NM_001278595.2:c.762G>T, NM_001278595.1:c.762G>T, NP_005907.3:p.Glu430Asp, XP_005250405.1:p.Glu323Asp, NP_877577.1:p.Glu254Asp, NP_001265524.1:p.Glu254Asp

Select item 14853885132.

rs1485388513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100097647 (GRCh38)
7:99695270 (GRCh37)
Canonical SPDI:: NC_000007.14:100097646:C:T
Gene:: MCM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100097647C>T, NC_000007.13:g.99695270C>T, NG_016312.1:g.1141C>T, NM_005916.5:c.1084G>A, NM_005916.4:c.1084G>A, XM_005250348.4:c.763G>A, XM_005250348.3:c.763G>A, XM_005250348.2:c.763G>A, XM_005250348.1:c.763G>A, NM_182776.3:c.556G>A, NM_182776.2:c.556G>A, NM_001278595.2:c.556G>A, NM_001278595.1:c.556G>A, NP_005907.3:p.Val362Met, XP_005250405.1:p.Val255Met, NP_877577.1:p.Val186Met, NP_001265524.1:p.Val186Met

Select item 14846406923.

rs1484640692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:100095827 (GRCh38)
7:99693450 (GRCh37)
Canonical SPDI:: NC_000007.14:100095826:C:A
Gene:: MCM7 (Varview), MIR106B (Varview), MIR93 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.100095827C>A, NC_000007.13:g.99693450C>A, NM_005916.5:c.1542G>T, NM_005916.4:c.1542G>T, XM_005250348.4:c.1221G>T, XM_005250348.3:c.1221G>T, XM_005250348.2:c.1221G>T, XM_005250348.1:c.1221G>T, NM_182776.3:c.1014G>T, NM_182776.2:c.1014G>T, NM_001278595.2:c.1014G>T, NM_001278595.1:c.1014G>T

Select item 14845373574.

rs1484537357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100096000 (GRCh38)
7:99693623 (GRCh37)
Canonical SPDI:: NC_000007.14:100095999:C:T
Gene:: MCM7 (Varview), MIR106B (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.100096000C>T, NC_000007.13:g.99693623C>T, NM_005916.5:c.1369G>A, NM_005916.4:c.1369G>A, XM_005250348.4:c.1048G>A, XM_005250348.3:c.1048G>A, XM_005250348.2:c.1048G>A, XM_005250348.1:c.1048G>A, NM_182776.3:c.841G>A, NM_182776.2:c.841G>A, NM_001278595.2:c.841G>A, NM_001278595.1:c.841G>A, NP_005907.3:p.Ala457Thr, XP_005250405.1:p.Ala350Thr, NP_877577.1:p.Ala281Thr, NP_001265524.1:p.Ala281Thr

Select item 14822264925.

rs1482226492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100095791 (GRCh38)
7:99693414 (GRCh37)
Canonical SPDI:: NC_000007.14:100095790:G:A
Gene:: MCM7 (Varview), MIR106B (Varview), MIR93 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_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.100095791G>A, NC_000007.13:g.99693414G>A, NM_005916.5:c.1578C>T, NM_005916.4:c.1578C>T, XM_005250348.4:c.1257C>T, XM_005250348.3:c.1257C>T, XM_005250348.2:c.1257C>T, XM_005250348.1:c.1257C>T, NM_182776.3:c.1050C>T, NM_182776.2:c.1050C>T, NM_001278595.2:c.1050C>T, NM_001278595.1:c.1050C>T

Select item 14814960816.

rs1481496081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100098680 (GRCh38)
7:99696303 (GRCh37)
Canonical SPDI:: NC_000007.14:100098679:G:A
Gene:: MCM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100098680G>A, NC_000007.13:g.99696303G>A, NG_016312.1:g.2174G>A, NM_005916.5:c.618C>T, NM_005916.4:c.618C>T, XM_005250348.4:c.297C>T, XM_005250348.3:c.297C>T, XM_005250348.2:c.297C>T, XM_005250348.1:c.297C>T, NM_182776.3:c.90C>T, NM_182776.2:c.90C>T, NM_001278595.2:c.90C>T, NM_001278595.1:c.90C>T

Select item 14813541227.

rs1481354122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100098678 (GRCh38)
7:99696301 (GRCh37)
Canonical SPDI:: NC_000007.14:100098677:G:A
Gene:: MCM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.100098678G>A, NC_000007.13:g.99696301G>A, NG_016312.1:g.2172G>A, NM_005916.5:c.620C>T, NM_005916.4:c.620C>T, XM_005250348.4:c.299C>T, XM_005250348.3:c.299C>T, XM_005250348.2:c.299C>T, XM_005250348.1:c.299C>T, NM_182776.3:c.92C>T, NM_182776.2:c.92C>T, NM_001278595.2:c.92C>T, NM_001278595.1:c.92C>T, NP_005907.3:p.Pro207Leu, XP_005250405.1:p.Pro100Leu, NP_877577.1:p.Pro31Leu, NP_001265524.1:p.Pro31Leu

Select item 14742045508.

rs1474204550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100095899 (GRCh38)
7:99693522 (GRCh37)
Canonical SPDI:: NC_000007.14:100095898:A:G
Gene:: MCM7 (Varview), MIR106B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.100095899A>G, NC_000007.13:g.99693522A>G, NM_005916.5:c.1470T>C, NM_005916.4:c.1470T>C, XM_005250348.4:c.1149T>C, XM_005250348.3:c.1149T>C, XM_005250348.2:c.1149T>C, XM_005250348.1:c.1149T>C, NM_182776.3:c.942T>C, NM_182776.2:c.942T>C, NM_001278595.2:c.942T>C, NM_001278595.1:c.942T>C

Select item 14702608479.

rs1470260847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100095432 (GRCh38)
7:99693055 (GRCh37)
Canonical SPDI:: NC_000007.14:100095431:C:T
Gene:: MCM7 (Varview), MIR106B (Varview), MIR25 (Varview), MIR93 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.100095432C>T, NC_000007.13:g.99693055C>T, NM_005916.5:c.1634G>A, NM_005916.4:c.1634G>A, XM_005250348.4:c.1313G>A, XM_005250348.3:c.1313G>A, XM_005250348.2:c.1313G>A, XM_005250348.1:c.1313G>A, NM_182776.3:c.1106G>A, NM_182776.2:c.1106G>A, NM_001278595.2:c.1106G>A, NM_001278595.1:c.1106G>A, NP_005907.3:p.Arg545Gln, XP_005250405.1:p.Arg438Gln, NP_877577.1:p.Arg369Gln, NP_001265524.1:p.Arg369Gln

Select item 147015623110.

rs1470156231 [Homo sapiens]

Variant type:: DEL
Alleles:: TTCTCC>- [Show Flanks]
Chromosome:: 7:100096091 (GRCh38)
7:99693714 (GRCh37)
Canonical SPDI:: NC_000007.14:100096090:TTCTCC:
Gene:: MCM7 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100096091_100096096del, NC_000007.13:g.99693714_99693719del, NM_005916.5:c.1273_1278del, NM_005916.4:c.1273_1278del, XM_005250348.4:c.952_957del, XM_005250348.3:c.952_957del, XM_005250348.2:c.952_957del, XM_005250348.1:c.952_957del, NM_182776.3:c.745_750del, NM_182776.2:c.745_750del, NM_001278595.2:c.745_750del, NM_001278595.1:c.745_750del, NP_005907.3:p.Gly425_Glu426del, XP_005250405.1:p.Gly318_Glu319del, NP_877577.1:p.Gly249_Glu250del, NP_001265524.1:p.Gly249_Glu250del

Select item 146897513111.

rs1468975131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100094292 (GRCh38)
7:99691915 (GRCh37)
Canonical SPDI:: NC_000007.14:100094291:G:A
Gene:: MCM7 (Varview), MIR106B (Varview), MIR25 (Varview), MIR93 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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.100094292G>A, NC_000007.13:g.99691915G>A, NM_005916.5:c.1729C>T, NM_005916.4:c.1729C>T, XM_005250348.4:c.1408C>T, XM_005250348.3:c.1408C>T, XM_005250348.2:c.1408C>T, XM_005250348.1:c.1408C>T, NM_182776.3:c.1201C>T, NM_182776.2:c.1201C>T, NM_001278595.2:c.1201C>T, NM_001278595.1:c.1201C>T

Select item 146815620312.

rs1468156203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100098643 (GRCh38)
7:99696266 (GRCh37)
Canonical SPDI:: NC_000007.14:100098642:G:A
Gene:: MCM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.100098643G>A, NC_000007.13:g.99696266G>A, NG_016312.1:g.2137G>A, NM_005916.5:c.655C>T, NM_005916.4:c.655C>T, XM_005250348.4:c.334C>T, XM_005250348.3:c.334C>T, XM_005250348.2:c.334C>T, XM_005250348.1:c.334C>T, NM_182776.3:c.127C>T, NM_182776.2:c.127C>T, NM_001278595.2:c.127C>T, NM_001278595.1:c.127C>T, NP_005907.3:p.Arg219Trp, XP_005250405.1:p.Arg112Trp, NP_877577.1:p.Arg43Trp, NP_001265524.1:p.Arg43Trp

Select item 146751633313.

rs1467516333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100097848 (GRCh38)
7:99695471 (GRCh37)
Canonical SPDI:: NC_000007.14:100097847:A:G
Gene:: MCM7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100097848A>G, NC_000007.13:g.99695471A>G, NG_016312.1:g.1342A>G, NM_005916.5:c.971T>C, NM_005916.4:c.971T>C, XM_005250348.4:c.650T>C, XM_005250348.3:c.650T>C, XM_005250348.2:c.650T>C, XM_005250348.1:c.650T>C, NM_182776.3:c.443T>C, NM_182776.2:c.443T>C, NM_001278595.2:c.443T>C, NM_001278595.1:c.443T>C, NP_005907.3:p.Leu324Pro, XP_005250405.1:p.Leu217Pro, NP_877577.1:p.Leu148Pro, NP_001265524.1:p.Leu148Pro

Select item 146615000914.

rs1466150009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100097865 (GRCh38)
7:99695488 (GRCh37)
Canonical SPDI:: NC_000007.14:100097864:C:T
Gene:: MCM7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100097865C>T, NC_000007.13:g.99695488C>T, NG_016312.1:g.1359C>T, NM_005916.5:c.954G>A, NM_005916.4:c.954G>A, XM_005250348.4:c.633G>A, XM_005250348.3:c.633G>A, XM_005250348.2:c.633G>A, XM_005250348.1:c.633G>A, NM_182776.3:c.426G>A, NM_182776.2:c.426G>A, NM_001278595.2:c.426G>A, NM_001278595.1:c.426G>A

Select item 146183259515.

rs1461832595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100093341 (GRCh38)
7:99690964 (GRCh37)
Canonical SPDI:: NC_000007.14:100093340:T:C
Gene:: MCM7 (Varview), MIR25 (Varview), MIR93 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
HGVS:: NC_000007.14:g.100093341T>C, NC_000007.13:g.99690964T>C, NG_046973.1:g.9382T>C, NM_005916.5:c.1909A>G, NM_005916.4:c.1909A>G, XM_005250348.4:c.1588A>G, XM_005250348.3:c.1588A>G, XM_005250348.2:c.1588A>G, XM_005250348.1:c.1588A>G, NM_182776.3:c.1381A>G, NM_182776.2:c.1381A>G, NM_001278595.2:c.1381A>G, NM_001278595.1:c.1381A>G, NP_005907.3:p.Met637Val, XP_005250405.1:p.Met530Val, NP_877577.1:p.Met461Val, NP_001265524.1:p.Met461Val

Select item 146151407316.

rs1461514073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100093007 (GRCh38)
7:99690630 (GRCh37)
Canonical SPDI:: NC_000007.14:100093006:C:T
Gene:: MCM7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100093007C>T, NC_000007.13:g.99690630C>T, NG_046973.1:g.9048C>T, NM_005916.5:c.2085G>A, NM_005916.4:c.2085G>A, XM_005250348.4:c.1764G>A, XM_005250348.3:c.1764G>A, XM_005250348.2:c.1764G>A, XM_005250348.1:c.1764G>A, NM_182776.3:c.1557G>A, NM_182776.2:c.1557G>A, NM_001278595.2:c.1557G>A, NM_001278595.1:c.1557G>A

Select item 146120674017.

rs1461206740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100095807 (GRCh38)
7:99693430 (GRCh37)
Canonical SPDI:: NC_000007.14:100095806:A:G
Gene:: MCM7 (Varview), MIR106B (Varview), MIR93 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100095807A>G, NC_000007.13:g.99693430A>G, NM_005916.5:c.1562T>C, NM_005916.4:c.1562T>C, XM_005250348.4:c.1241T>C, XM_005250348.3:c.1241T>C, XM_005250348.2:c.1241T>C, XM_005250348.1:c.1241T>C, NM_182776.3:c.1034T>C, NM_182776.2:c.1034T>C, NM_001278595.2:c.1034T>C, NM_001278595.1:c.1034T>C, NP_005907.3:p.Ile521Thr, XP_005250405.1:p.Ile414Thr, NP_877577.1:p.Ile345Thr, NP_001265524.1:p.Ile345Thr

Select item 146111330918.

rs1461113309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100095453 (GRCh38)
7:99693076 (GRCh37)
Canonical SPDI:: NC_000007.14:100095452:G:C
Gene:: MCM7 (Varview), MIR106B (Varview), MIR25 (Varview), MIR93 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100095453G>C, NC_000007.13:g.99693076G>C, NM_005916.5:c.1613C>G, NM_005916.4:c.1613C>G, XM_005250348.4:c.1292C>G, XM_005250348.3:c.1292C>G, XM_005250348.2:c.1292C>G, XM_005250348.1:c.1292C>G, NM_182776.3:c.1085C>G, NM_182776.2:c.1085C>G, NM_001278595.2:c.1085C>G, NM_001278595.1:c.1085C>G, NP_005907.3:p.Thr538Ser, XP_005250405.1:p.Thr431Ser, NP_877577.1:p.Thr362Ser, NP_001265524.1:p.Thr362Ser

Select item 145736932519.

rs1457369325 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:100093344 (GRCh38)
7:99690968 (GRCh37)
Canonical SPDI:: NC_000007.14:100093344:CC:CCC
Gene:: MCM7 (Varview), MIR25 (Varview), MIR93 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,frameshift_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100093346dup, NC_000007.13:g.99690969dup, NG_046973.1:g.9387dup, NM_005916.5:c.1905dup, NM_005916.4:c.1905dup, XM_005250348.4:c.1584dup, XM_005250348.3:c.1584dup, XM_005250348.2:c.1584dup, XM_005250348.1:c.1584dup, NM_182776.3:c.1377dup, NM_182776.2:c.1377dup, NM_001278595.2:c.1377dup, NM_001278595.1:c.1377dup, NP_005907.3:p.Leu636fs, XP_005250405.1:p.Leu529fs, NP_877577.1:p.Leu460fs, NP_001265524.1:p.Leu460fs

Select item 145588609120.

rs1455886091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100094247 (GRCh38)
7:99691870 (GRCh37)
Canonical SPDI:: NC_000007.14:100094246:C:T
Gene:: MCM7 (Varview), MIR106B (Varview), MIR25 (Varview), MIR93 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.100094247C>T, NC_000007.13:g.99691870C>T, NM_005916.5:c.1774G>A, NM_005916.4:c.1774G>A, XM_005250348.4:c.1453G>A, XM_005250348.3:c.1453G>A, XM_005250348.2:c.1453G>A, XM_005250348.1:c.1453G>A, NM_182776.3:c.1246G>A, NM_182776.2:c.1246G>A, NM_001278595.2:c.1246G>A, NM_001278595.1:c.1246G>A, NP_005907.3:p.Ala592Thr, XP_005250405.1:p.Ala485Thr, NP_877577.1:p.Ala416Thr, NP_001265524.1:p.Ala416Thr

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