SNP Links for Protein (Select 1162503622) - SNP

Links from Protein

Items: 1 to 20 of 153

<< First< Prev

Page of 8

Next >Last >>

Select item 14904082971.

rs1490408297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:125182259 (GRCh38)
8:126194501 (GRCh37)
Canonical SPDI:: NC_000008.11:125182258:A:G
Gene:: NSMCE2 (Varview)
Functional Consequence:: non_coding_transcript_variant,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=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.125182259A>G, NC_000008.10:g.126194501A>G, NG_053069.1:g.95442A>G, NR_146192.2:n.766A>G, NR_146192.1:n.803A>G, NM_001349487.2:c.421A>G, NM_001349487.1:c.421A>G, NP_001336416.1:p.Lys141Glu

Select item 14840825732.

rs1484082573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:125151267 (GRCh38)
8:126163509 (GRCh37)
Canonical SPDI:: NC_000008.11:125151266:C:T
Gene:: NSMCE2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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_000008.11:g.125151267C>T, NC_000008.10:g.126163509C>T, NG_053069.1:g.64450C>T, NM_173685.4:c.254C>T, NM_173685.3:c.254C>T, NM_173685.2:c.254C>T, NR_146191.2:n.500C>T, NR_146191.1:n.537C>T, NM_001349486.2:c.254C>T, NM_001349486.1:c.254C>T, NM_001349485.2:c.254C>T, NM_001349485.1:c.254C>T, NR_146192.2:n.500C>T, NR_146192.1:n.537C>T, NM_001349487.2:c.254C>T, NM_001349487.1:c.254C>T, XM_017013332.3:c.260C>T, XM_017013332.2:c.260C>T, XM_017013332.1:c.260C>T, XM_017013330.3:c.260C>T, XM_017013330.2:c.260C>T, XM_017013330.1:c.260C>T, XM_011516974.3:c.254C>T, XM_011516974.2:c.254C>T, XM_011516974.1:c.254C>T, XM_011516975.3:c.254C>T, XM_011516975.2:c.254C>T, XM_011516975.1:c.254C>T, XM_017013331.2:c.254C>T, XM_017013331.1:c.254C>T, XM_024447130.2:c.254C>T, XM_024447130.1:c.254C>T, XM_047421704.1:c.254C>T, XM_047421702.1:c.254C>T, XM_047421705.1:c.254C>T, XM_047421703.1:c.254C>T, NP_775956.1:p.Thr85Ile, NP_001336415.1:p.Thr85Ile, NP_001336414.1:p.Thr85Ile, NP_001336416.1:p.Thr85Ile, XP_016868821.1:p.Thr87Ile, XP_016868819.1:p.Thr87Ile, XP_011515276.1:p.Thr85Ile, XP_011515277.1:p.Thr85Ile, XP_016868820.1:p.Thr85Ile, XP_024302898.1:p.Thr85Ile, XP_047277660.1:p.Thr85Ile, XP_047277658.1:p.Thr85Ile, XP_047277661.1:p.Thr85Ile, XP_047277659.1:p.Thr85Ile

Select item 14744101863.

rs1474410186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:125182306 (GRCh38)
8:126194548 (GRCh37)
Canonical SPDI:: NC_000008.11:125182305:G:A,NC_000008.11:125182305:G:C
Gene:: NSMCE2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (KOREAN)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.125182306G>A, NC_000008.11:g.125182306G>C, NC_000008.10:g.126194548G>A, NC_000008.10:g.126194548G>C, NG_053069.1:g.95489G>A, NG_053069.1:g.95489G>C, NR_146192.2:n.813G>A, NR_146192.2:n.813G>C, NR_146192.1:n.850G>A, NR_146192.1:n.850G>C, NM_001349487.2:c.468G>A, NM_001349487.2:c.468G>C, NM_001349487.1:c.468G>A, NM_001349487.1:c.468G>C

Select item 14742956874.

rs1474295687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:125102468 (GRCh38)
8:126114710 (GRCh37)
Canonical SPDI:: NC_000008.11:125102467:G:C
Gene:: NSMCE2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.125102468G>C, NC_000008.10:g.126114710G>C, NG_053069.1:g.15651G>C, NM_173685.4:c.138G>C, NM_173685.3:c.138G>C, NM_173685.2:c.138G>C, NR_146191.2:n.384G>C, NR_146191.1:n.421G>C, NM_001349486.2:c.138G>C, NM_001349486.1:c.138G>C, NM_001349485.2:c.138G>C, NM_001349485.1:c.138G>C, NR_146192.2:n.384G>C, NR_146192.1:n.421G>C, NM_001349487.2:c.138G>C, NM_001349487.1:c.138G>C, XM_011516974.3:c.138G>C, XM_011516974.2:c.138G>C, XM_011516974.1:c.138G>C, XM_011516975.3:c.138G>C, XM_011516975.2:c.138G>C, XM_011516975.1:c.138G>C, XM_017013331.2:c.138G>C, XM_017013331.1:c.138G>C, XM_024447130.2:c.138G>C, XM_024447130.1:c.138G>C, XM_047421704.1:c.138G>C, XM_047421702.1:c.138G>C, XM_047421705.1:c.138G>C, XM_047421703.1:c.138G>C, NP_775956.1:p.Leu46Phe, NP_001336415.1:p.Leu46Phe, NP_001336414.1:p.Leu46Phe, NP_001336416.1:p.Leu46Phe, XP_011515276.1:p.Leu46Phe, XP_011515277.1:p.Leu46Phe, XP_016868820.1:p.Leu46Phe, XP_024302898.1:p.Leu46Phe, XP_047277660.1:p.Leu46Phe, XP_047277658.1:p.Leu46Phe, XP_047277661.1:p.Leu46Phe, XP_047277659.1:p.Leu46Phe

Select item 14669065355.

rs1466906535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:125182237 (GRCh38)
8:126194479 (GRCh37)
Canonical SPDI:: NC_000008.11:125182236:G:A
Gene:: NSMCE2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.125182237G>A, NC_000008.10:g.126194479G>A, NG_053069.1:g.95420G>A, NM_173685.4:c.399G>A, NM_173685.3:c.399G>A, NM_173685.2:c.399G>A, NR_146191.2:n.744G>A, NR_146191.1:n.781G>A, NM_001349486.2:c.399G>A, NM_001349486.1:c.399G>A, NM_001349485.2:c.399G>A, NM_001349485.1:c.399G>A, NR_146192.2:n.744G>A, NR_146192.1:n.781G>A, NM_001349487.2:c.399G>A, NM_001349487.1:c.399G>A, XM_017013332.3:c.405G>A, XM_017013332.2:c.405G>A, XM_017013332.1:c.405G>A, XM_017013330.3:c.405G>A, XM_017013330.2:c.405G>A, XM_017013330.1:c.405G>A, XM_011516974.3:c.399G>A, XM_011516974.2:c.399G>A, XM_011516974.1:c.399G>A, XM_011516975.3:c.399G>A, XM_011516975.2:c.399G>A, XM_011516975.1:c.399G>A, XM_017013331.2:c.399G>A, XM_017013331.1:c.399G>A, XM_024447130.2:c.399G>A, XM_024447130.1:c.399G>A, XM_047421704.1:c.399G>A, XM_047421702.1:c.399G>A, XM_047421705.1:c.399G>A, XM_047421703.1:c.399G>A

Select item 14618756056.

rs1461875605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:125151257 (GRCh38)
8:126163499 (GRCh37)
Canonical SPDI:: NC_000008.11:125151256:G:A
Gene:: NSMCE2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.125151257G>A, NC_000008.10:g.126163499G>A, NG_053069.1:g.64440G>A, NM_173685.4:c.244G>A, NM_173685.3:c.244G>A, NM_173685.2:c.244G>A, NR_146191.2:n.490G>A, NR_146191.1:n.527G>A, NM_001349486.2:c.244G>A, NM_001349486.1:c.244G>A, NM_001349485.2:c.244G>A, NM_001349485.1:c.244G>A, NR_146192.2:n.490G>A, NR_146192.1:n.527G>A, NM_001349487.2:c.244G>A, NM_001349487.1:c.244G>A, XM_017013332.3:c.250G>A, XM_017013332.2:c.250G>A, XM_017013332.1:c.250G>A, XM_017013330.3:c.250G>A, XM_017013330.2:c.250G>A, XM_017013330.1:c.250G>A, XM_011516974.3:c.244G>A, XM_011516974.2:c.244G>A, XM_011516974.1:c.244G>A, XM_011516975.3:c.244G>A, XM_011516975.2:c.244G>A, XM_011516975.1:c.244G>A, XM_017013331.2:c.244G>A, XM_017013331.1:c.244G>A, XM_024447130.2:c.244G>A, XM_024447130.1:c.244G>A, XM_047421704.1:c.244G>A, XM_047421702.1:c.244G>A, XM_047421705.1:c.244G>A, XM_047421703.1:c.244G>A, NP_775956.1:p.Val82Ile, NP_001336415.1:p.Val82Ile, NP_001336414.1:p.Val82Ile, NP_001336416.1:p.Val82Ile, XP_016868821.1:p.Val84Ile, XP_016868819.1:p.Val84Ile, XP_011515276.1:p.Val82Ile, XP_011515277.1:p.Val82Ile, XP_016868820.1:p.Val82Ile, XP_024302898.1:p.Val82Ile, XP_047277660.1:p.Val82Ile, XP_047277658.1:p.Val82Ile, XP_047277661.1:p.Val82Ile, XP_047277659.1:p.Val82Ile

Select item 14538870227.

rs1453887022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:125151194 (GRCh38)
8:126163436 (GRCh37)
Canonical SPDI:: NC_000008.11:125151193:A:G
Gene:: NSMCE2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000008.11:g.125151194A>G, NC_000008.10:g.126163436A>G, NG_053069.1:g.64377A>G, NM_173685.4:c.181A>G, NM_173685.3:c.181A>G, NM_173685.2:c.181A>G, NR_146191.2:n.427A>G, NR_146191.1:n.464A>G, NM_001349486.2:c.181A>G, NM_001349486.1:c.181A>G, NM_001349485.2:c.181A>G, NM_001349485.1:c.181A>G, NR_146192.2:n.427A>G, NR_146192.1:n.464A>G, NM_001349487.2:c.181A>G, NM_001349487.1:c.181A>G, XM_017013332.3:c.187A>G, XM_017013332.2:c.187A>G, XM_017013332.1:c.187A>G, XM_017013330.3:c.187A>G, XM_017013330.2:c.187A>G, XM_017013330.1:c.187A>G, XM_011516974.3:c.181A>G, XM_011516974.2:c.181A>G, XM_011516974.1:c.181A>G, XM_011516975.3:c.181A>G, XM_011516975.2:c.181A>G, XM_011516975.1:c.181A>G, XM_017013331.2:c.181A>G, XM_017013331.1:c.181A>G, XM_024447130.2:c.181A>G, XM_024447130.1:c.181A>G, XM_047421704.1:c.181A>G, XM_047421702.1:c.181A>G, XM_047421705.1:c.181A>G, XM_047421703.1:c.181A>G, NP_775956.1:p.Met61Val, NP_001336415.1:p.Met61Val, NP_001336414.1:p.Met61Val, NP_001336416.1:p.Met61Val, XP_016868821.1:p.Met63Val, XP_016868819.1:p.Met63Val, XP_011515276.1:p.Met61Val, XP_011515277.1:p.Met61Val, XP_016868820.1:p.Met61Val, XP_024302898.1:p.Met61Val, XP_047277660.1:p.Met61Val, XP_047277658.1:p.Met61Val, XP_047277661.1:p.Met61Val, XP_047277659.1:p.Met61Val

Select item 14523868178.

rs1452386817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:125182260 (GRCh38)
8:126194502 (GRCh37)
Canonical SPDI:: NC_000008.11:125182259:A:G
Gene:: NSMCE2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.125182260A>G, NC_000008.10:g.126194502A>G, NG_053069.1:g.95443A>G, NR_146192.2:n.767A>G, NR_146192.1:n.804A>G, NM_001349487.2:c.422A>G, NM_001349487.1:c.422A>G, NP_001336416.1:p.Lys141Arg