SNP Links for Protein (Select 1024249284) - SNP

Links from Protein

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Select item 14900738111.

rs1490073811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:111011779 (GRCh38)
10:112771537 (GRCh37)
Canonical SPDI:: NC_000010.11:111011778:G:T
Gene:: SHOC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000010.11:g.111011779G>T, NC_000010.10:g.112771537G>T, NG_028922.1:g.97237G>T, NM_007373.4:c.1710G>T, NM_007373.3:c.1710G>T, NM_001269039.3:c.1572G>T, NM_001269039.2:c.1572G>T, NM_001269039.1:c.1572G>T, NM_001324337.2:c.1710G>T, NM_001324337.1:c.1710G>T, NM_001324336.2:c.1710G>T, NM_001324336.1:c.1710G>T, NR_136749.2:n.1061G>T, NR_136749.1:n.1122G>T, XM_047425796.1:c.1572G>T, NP_031399.2:p.Gln570His, NP_001255968.1:p.Gln524His, NP_001311266.1:p.Gln570His, NP_001311265.1:p.Gln570His, XP_047281752.1:p.Gln524His

Select item 14897455252.

rs1489745525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:110964420 (GRCh38)
10:112724178 (GRCh37)
Canonical SPDI:: NC_000010.11:110964419:C:T
Gene:: SHOC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000010.11:g.110964420C>T, NC_000010.10:g.112724178C>T, NG_028922.1:g.49878C>T, NM_007373.4:c.62C>T, NM_007373.3:c.62C>T, NM_001269039.3:c.62C>T, NM_001269039.2:c.62C>T, NM_001269039.1:c.62C>T, NM_001324337.2:c.62C>T, NM_001324337.1:c.62C>T, NM_001324336.2:c.62C>T, NM_001324336.1:c.62C>T, XM_047425796.1:c.62C>T, NP_031399.2:p.Ala21Val, NP_001255968.1:p.Ala21Val, NP_001311266.1:p.Ala21Val, NP_001311265.1:p.Ala21Val, XP_047281752.1:p.Ala21Val

Select item 14890941973.

rs1489094197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:111000526 (GRCh38)
10:112760284 (GRCh37)
Canonical SPDI:: NC_000010.11:111000525:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.111000526A>G, NC_000010.10:g.112760284A>G, NG_028922.1:g.85984A>G, NM_007373.4:c.953A>G, NM_007373.3:c.953A>G, NM_001269039.3:c.815A>G, NM_001269039.2:c.815A>G, NM_001269039.1:c.815A>G, NM_001324337.2:c.953A>G, NM_001324337.1:c.953A>G, NM_001324336.2:c.953A>G, NM_001324336.1:c.953A>G, NR_136749.2:n.304A>G, NR_136749.1:n.365A>G, XM_047425796.1:c.815A>G, NP_031399.2:p.Asn318Ser, NP_001255968.1:p.Asn272Ser, NP_001311266.1:p.Asn318Ser, NP_001311265.1:p.Asn318Ser, XP_047281752.1:p.Asn272Ser

Select item 14874270174.

rs1487427017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:111007577 (GRCh38)
10:112767335 (GRCh37)
Canonical SPDI:: NC_000010.11:111007576:G:C,NC_000010.11:111007576:G:T
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.111007577G>C, NC_000010.11:g.111007577G>T, NC_000010.10:g.112767335G>C, NC_000010.10:g.112767335G>T, NG_028922.1:g.93035G>C, NG_028922.1:g.93035G>T, NM_007373.4:c.1208G>C, NM_007373.4:c.1208G>T, NM_007373.3:c.1208G>C, NM_007373.3:c.1208G>T, NM_001269039.3:c.1070G>C, NM_001269039.3:c.1070G>T, NM_001269039.2:c.1070G>C, NM_001269039.2:c.1070G>T, NM_001269039.1:c.1070G>C, NM_001269039.1:c.1070G>T, NM_001324337.2:c.1208G>C, NM_001324337.2:c.1208G>T, NM_001324337.1:c.1208G>C, NM_001324337.1:c.1208G>T, NM_001324336.2:c.1208G>C, NM_001324336.2:c.1208G>T, NM_001324336.1:c.1208G>C, NM_001324336.1:c.1208G>T, NR_136749.2:n.559G>C, NR_136749.2:n.559G>T, NR_136749.1:n.620G>C, NR_136749.1:n.620G>T, XM_047425796.1:c.1070G>C, XM_047425796.1:c.1070G>T, NP_031399.2:p.Ser403Thr, NP_031399.2:p.Ser403Ile, NP_001255968.1:p.Ser357Thr, NP_001255968.1:p.Ser357Ile, NP_001311266.1:p.Ser403Thr, NP_001311266.1:p.Ser403Ile, NP_001311265.1:p.Ser403Thr, NP_001311265.1:p.Ser403Ile, XP_047281752.1:p.Ser357Thr, XP_047281752.1:p.Ser357Ile

Select item 14857432435.

rs1485743243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:110964543 (GRCh38)
10:112724301 (GRCh37)
Canonical SPDI:: NC_000010.11:110964542:C:T
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110964543C>T, NC_000010.10:g.112724301C>T, NG_028922.1:g.50001C>T, NM_007373.4:c.185C>T, NM_007373.3:c.185C>T, NM_001269039.3:c.185C>T, NM_001269039.2:c.185C>T, NM_001269039.1:c.185C>T, NM_001324337.2:c.185C>T, NM_001324337.1:c.185C>T, NM_001324336.2:c.185C>T, NM_001324336.1:c.185C>T, XM_047425796.1:c.185C>T, NP_031399.2:p.Pro62Leu, NP_001255968.1:p.Pro62Leu, NP_001311266.1:p.Pro62Leu, NP_001311265.1:p.Pro62Leu, XP_047281752.1:p.Pro62Leu

Select item 14834093746.

rs1483409374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:111009715 (GRCh38)
10:112769473 (GRCh37)
Canonical SPDI:: NC_000010.11:111009714:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.111009715A>G, NC_000010.10:g.112769473A>G, NG_028922.1:g.95173A>G, NM_007373.4:c.1425A>G, NM_007373.3:c.1425A>G, NM_001269039.3:c.1287A>G, NM_001269039.2:c.1287A>G, NM_001269039.1:c.1287A>G, NM_001324337.2:c.1425A>G, NM_001324337.1:c.1425A>G, NM_001324336.2:c.1425A>G, NM_001324336.1:c.1425A>G, NR_136749.2:n.776A>G, NR_136749.1:n.837A>G, XM_047425796.1:c.1287A>G

Select item 14791697907.

rs1479169790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:110964667 (GRCh38)
10:112724425 (GRCh37)
Canonical SPDI:: NC_000010.11:110964666:G:A
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110964667G>A, NC_000010.10:g.112724425G>A, NG_028922.1:g.50125G>A, NM_007373.4:c.309G>A, NM_007373.3:c.309G>A, NM_001269039.3:c.309G>A, NM_001269039.2:c.309G>A, NM_001269039.1:c.309G>A, NM_001324337.2:c.309G>A, NM_001324337.1:c.309G>A, NM_001324336.2:c.309G>A, NM_001324336.1:c.309G>A, XM_047425796.1:c.309G>A, NP_031399.2:p.Met103Ile, NP_001255968.1:p.Met103Ile, NP_001311266.1:p.Met103Ile, NP_001311265.1:p.Met103Ile, XP_047281752.1:p.Met103Ile

Select item 14761971248.

rs1476197124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:110985693 (GRCh38)
10:112745451 (GRCh37)
Canonical SPDI:: NC_000010.11:110985692:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.110985693A>G, NC_000010.10:g.112745451A>G, NG_028922.1:g.71151A>G, NM_007373.4:c.769A>G, NM_007373.3:c.769A>G, NM_001324337.2:c.769A>G, NM_001324337.1:c.769A>G, NM_001324336.2:c.769A>G, NM_001324336.1:c.769A>G, NR_136749.2:n.120A>G, NR_136749.1:n.181A>G, NP_031399.2:p.Ile257Val, NP_001311266.1:p.Ile257Val, NP_001311265.1:p.Ile257Val

Select item 14730148719.

rs1473014871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:111004643 (GRCh38)
10:112764401 (GRCh37)
Canonical SPDI:: NC_000010.11:111004642:C:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.111004643C>G, NC_000010.10:g.112764401C>G, NG_028922.1:g.90101C>G, NM_007373.4:c.1010C>G, NM_007373.3:c.1010C>G, NM_001269039.3:c.872C>G, NM_001269039.2:c.872C>G, NM_001269039.1:c.872C>G, NM_001324337.2:c.1010C>G, NM_001324337.1:c.1010C>G, NM_001324336.2:c.1010C>G, NM_001324336.1:c.1010C>G, NR_136749.2:n.361C>G, NR_136749.1:n.422C>G, XM_047425796.1:c.872C>G, NP_031399.2:p.Thr337Ser, NP_001255968.1:p.Thr291Ser, NP_001311266.1:p.Thr337Ser, NP_001311265.1:p.Thr337Ser, XP_047281752.1:p.Thr291Ser

Select item 147190666410.

rs1471906664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:110964931 (GRCh38)
10:112724689 (GRCh37)
Canonical SPDI:: NC_000010.11:110964930:G:A
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.110964931G>A, NC_000010.10:g.112724689G>A, NG_028922.1:g.50389G>A, NM_007373.4:c.573G>A, NM_007373.3:c.573G>A, NM_001269039.3:c.573G>A, NM_001269039.2:c.573G>A, NM_001269039.1:c.573G>A, NM_001324337.2:c.573G>A, NM_001324337.1:c.573G>A, NM_001324336.2:c.573G>A, NM_001324336.1:c.573G>A, XM_047425796.1:c.573G>A

Select item 147065501911.

rs1470655019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:111011810 (GRCh38)
10:112771568 (GRCh37)
Canonical SPDI:: NC_000010.11:111011809:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.111011810A>G, NC_000010.10:g.112771568A>G, NG_028922.1:g.97268A>G, NM_007373.4:c.1741A>G, NM_007373.3:c.1741A>G, NM_001269039.3:c.1603A>G, NM_001269039.2:c.1603A>G, NM_001269039.1:c.1603A>G, NM_001324337.2:c.1741A>G, NM_001324337.1:c.1741A>G, NM_001324336.2:c.1741A>G, NM_001324336.1:c.1741A>G, NR_136749.2:n.1092A>G, NR_136749.1:n.1153A>G, XM_047425796.1:c.1603A>G, NP_031399.2:p.Met581Val, NP_001255968.1:p.Met535Val, NP_001311266.1:p.Met581Val, NP_001311265.1:p.Met581Val, XP_047281752.1:p.Met535Val

Select item 146748363012.

rs1467483630 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:110964572 (GRCh38)
10:112724330 (GRCh37)
Canonical SPDI:: NC_000010.11:110964571:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000010.11:g.110964572A>G, NC_000010.10:g.112724330A>G, NG_028922.1:g.50030A>G, NM_007373.4:c.214A>G, NM_007373.3:c.214A>G, NM_001269039.3:c.214A>G, NM_001269039.2:c.214A>G, NM_001269039.1:c.214A>G, NM_001324337.2:c.214A>G, NM_001324337.1:c.214A>G, NM_001324336.2:c.214A>G, NM_001324336.1:c.214A>G, XM_047425796.1:c.214A>G, NP_031399.2:p.Ile72Val, NP_001255968.1:p.Ile72Val, NP_001311266.1:p.Ile72Val, NP_001311265.1:p.Ile72Val, XP_047281752.1:p.Ile72Val

Select item 146522015413.

rs1465220154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:111004787 (GRCh38)
10:112764545 (GRCh37)
Canonical SPDI:: NC_000010.11:111004786:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000010.11:g.111004787A>G, NC_000010.10:g.112764545A>G, NG_028922.1:g.90245A>G, NM_007373.4:c.1154A>G, NM_007373.3:c.1154A>G, NM_001269039.3:c.1016A>G, NM_001269039.2:c.1016A>G, NM_001269039.1:c.1016A>G, NM_001324337.2:c.1154A>G, NM_001324337.1:c.1154A>G, NM_001324336.2:c.1154A>G, NM_001324336.1:c.1154A>G, NR_136749.2:n.505A>G, NR_136749.1:n.566A>G, XM_047425796.1:c.1016A>G, NP_031399.2:p.Asn385Ser, NP_001255968.1:p.Asn339Ser, NP_001311266.1:p.Asn385Ser, NP_001311265.1:p.Asn385Ser, XP_047281752.1:p.Asn339Ser

Select item 146454731714.

rs1464547317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:111004722 (GRCh38)
10:112764480 (GRCh37)
Canonical SPDI:: NC_000010.11:111004721:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.111004722A>G, NC_000010.10:g.112764480A>G, NG_028922.1:g.90180A>G, NM_007373.4:c.1089A>G, NM_007373.3:c.1089A>G, NM_001269039.3:c.951A>G, NM_001269039.2:c.951A>G, NM_001269039.1:c.951A>G, NM_001324337.2:c.1089A>G, NM_001324337.1:c.1089A>G, NM_001324336.2:c.1089A>G, NM_001324336.1:c.1089A>G, NR_136749.2:n.440A>G, NR_136749.1:n.501A>G, XM_047425796.1:c.951A>G

Select item 146191692415.

rs1461916924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:111009349 (GRCh38)
10:112769107 (GRCh37)
Canonical SPDI:: NC_000010.11:111009348:C:T
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.111009349C>T, NC_000010.10:g.112769107C>T, NG_028922.1:g.94807C>T, NM_007373.4:c.1386C>T, NM_007373.3:c.1386C>T, NM_001269039.3:c.1248C>T, NM_001269039.2:c.1248C>T, NM_001269039.1:c.1248C>T, NM_001324337.2:c.1386C>T, NM_001324337.1:c.1386C>T, NM_001324336.2:c.1386C>T, NM_001324336.1:c.1386C>T, NR_136749.2:n.737C>T, NR_136749.1:n.798C>T, XM_047425796.1:c.1248C>T

Select item 146033166516.

rs1460331665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:110964439 (GRCh38)
10:112724197 (GRCh37)
Canonical SPDI:: NC_000010.11:110964438:G:A
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110964439G>A, NC_000010.10:g.112724197G>A, NG_028922.1:g.49897G>A, NM_007373.4:c.81G>A, NM_007373.3:c.81G>A, NM_001269039.3:c.81G>A, NM_001269039.2:c.81G>A, NM_001269039.1:c.81G>A, NM_001324337.2:c.81G>A, NM_001324337.1:c.81G>A, NM_001324336.2:c.81G>A, NM_001324336.1:c.81G>A, XM_047425796.1:c.81G>A

Select item 145985395017.

rs1459853950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:111000507 (GRCh38)
10:112760265 (GRCh37)
Canonical SPDI:: NC_000010.11:111000506:T:C
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.111000507T>C, NC_000010.10:g.112760265T>C, NG_028922.1:g.85965T>C, NM_007373.4:c.934T>C, NM_007373.3:c.934T>C, NM_001269039.3:c.796T>C, NM_001269039.2:c.796T>C, NM_001269039.1:c.796T>C, NM_001324337.2:c.934T>C, NM_001324337.1:c.934T>C, NM_001324336.2:c.934T>C, NM_001324336.1:c.934T>C, NR_136749.2:n.285T>C, NR_136749.1:n.346T>C, XM_047425796.1:c.796T>C

Select item 145819774218.

rs1458197742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:110964967 (GRCh38)
10:112724725 (GRCh37)
Canonical SPDI:: NC_000010.11:110964966:T:C
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110964967T>C, NC_000010.10:g.112724725T>C, NG_028922.1:g.50425T>C, NM_007373.4:c.609T>C, NM_007373.3:c.609T>C, NM_001269039.3:c.609T>C, NM_001269039.2:c.609T>C, NM_001269039.1:c.609T>C, NM_001324337.2:c.609T>C, NM_001324337.1:c.609T>C, NM_001324336.2:c.609T>C, NM_001324336.1:c.609T>C, XM_047425796.1:c.609T>C

Select item 145805785219.

rs1458057852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:110964369 (GRCh38)
10:112724127 (GRCh37)
Canonical SPDI:: NC_000010.11:110964368:G:T
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110964369G>T, NC_000010.10:g.112724127G>T, NG_028922.1:g.49827G>T, NM_007373.4:c.11G>T, NM_007373.3:c.11G>T, NM_001269039.3:c.11G>T, NM_001269039.2:c.11G>T, NM_001269039.1:c.11G>T, NM_001324337.2:c.11G>T, NM_001324337.1:c.11G>T, NM_001324336.2:c.11G>T, NM_001324336.1:c.11G>T, XM_047425796.1:c.11G>T, NP_031399.2:p.Ser4Ile, NP_001255968.1:p.Ser4Ile, NP_001311266.1:p.Ser4Ile, NP_001311265.1:p.Ser4Ile, XP_047281752.1:p.Ser4Ile

Select item 145725412520.

rs1457254125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:111011778 (GRCh38)
10:112771536 (GRCh37)
Canonical SPDI:: NC_000010.11:111011777:A:G
Gene:: SHOC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.111011778A>G, NC_000010.10:g.112771536A>G, NG_028922.1:g.97236A>G, NM_007373.4:c.1709A>G, NM_007373.3:c.1709A>G, NM_001269039.3:c.1571A>G, NM_001269039.2:c.1571A>G, NM_001269039.1:c.1571A>G, NM_001324337.2:c.1709A>G, NM_001324337.1:c.1709A>G, NM_001324336.2:c.1709A>G, NM_001324336.1:c.1709A>G, NR_136749.2:n.1060A>G, NR_136749.1:n.1121A>G, XM_047425796.1:c.1571A>G, NP_031399.2:p.Gln570Arg, NP_001255968.1:p.Gln524Arg, NP_001311266.1:p.Gln570Arg, NP_001311265.1:p.Gln570Arg, XP_047281752.1:p.Gln524Arg

dbSNP

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