SNP Links for Protein (Select 578824051) - SNP

Links from Protein

Items: 1 to 20 of 1822

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Select item 14914679981.

rs1491467998 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGT [Show Flanks]
Chromosome:: 12:70532098 (GRCh38)
12:70925879 (GRCh37)
Canonical SPDI:: NC_000012.12:70532098:GAGT:GAGTGAGT
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: GAGT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70532099_70532102dup, NC_000012.11:g.70925879_70925882dup, NG_029940.2:g.110339_110342dup, NM_002837.6:c.5783_5786dup, NM_002837.5:c.5783_5786dup, NM_002837.4:c.5783_5786dup, NM_001109754.4:c.6437_6440dup, NM_001109754.3:c.6437_6440dup, NM_001109754.2:c.6437_6440dup, NM_001206972.3:c.5513_5516dup, NM_001206972.2:c.5513_5516dup, NM_001206972.1:c.5513_5516dup, NM_001206971.3:c.5513_5516dup, NM_001206971.2:c.5513_5516dup, NM_001206971.1:c.5513_5516dup, NM_001330204.2:c.6173_6176dup, NM_001330204.1:c.6173_6176dup, XM_006719529.5:c.5783_5786dup, XM_006719529.4:c.5783_5786dup, XM_006719529.3:c.5783_5786dup, XM_006719529.2:c.5783_5786dup, XM_006719529.1:c.5783_5786dup, XM_006719528.2:c.6437_6440dup, XM_006719528.1:c.6437_6440dup, XM_011538614.2:c.6173_6176dup, XM_011538614.1:c.6173_6176dup, XM_017019724.1:c.4085_4088dup, NP_002828.3:p.Val1930fs, NP_001103224.1:p.Val2148fs, NP_001193901.1:p.Val1840fs, NP_001193900.1:p.Val1840fs, NP_001317133.1:p.Val2060fs, XP_006719592.1:p.Val1930fs, XP_006719591.1:p.Val2148fs, XP_011536916.1:p.Val2060fs, XP_016875213.1:p.Val1364fs

Select item 14914251182.

rs1491425118 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:70532100 (GRCh38)
12:70925880 (GRCh37)
Canonical SPDI:: NC_000012.12:70532097:AGAG:AG
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70532098AG[1], NC_000012.11:g.70925878AG[1], NG_029940.2:g.110340CT[1], NM_002837.6:c.5786_5787del, NM_002837.5:c.5786_5787del, NM_002837.4:c.5786_5787del, NM_001109754.4:c.6440_6441del, NM_001109754.3:c.6440_6441del, NM_001109754.2:c.6440_6441del, NM_001206972.3:c.5516_5517del, NM_001206972.2:c.5516_5517del, NM_001206972.1:c.5516_5517del, NM_001206971.3:c.5516_5517del, NM_001206971.2:c.5516_5517del, NM_001206971.1:c.5516_5517del, NM_001330204.2:c.6176_6177del, NM_001330204.1:c.6176_6177del, XM_006719529.5:c.5786_5787del, XM_006719529.4:c.5786_5787del, XM_006719529.3:c.5786_5787del, XM_006719529.2:c.5786_5787del, XM_006719529.1:c.5786_5787del, XM_006719528.2:c.6440_6441del, XM_006719528.1:c.6440_6441del, XM_011538614.2:c.6176_6177del, XM_011538614.1:c.6176_6177del, XM_017019724.1:c.4088_4089del, NP_002828.3:p.Ser1929fs, NP_001103224.1:p.Ser2147fs, NP_001193901.1:p.Ser1839fs, NP_001193900.1:p.Ser1839fs, NP_001317133.1:p.Ser2059fs, XP_006719592.1:p.Ser1929fs, XP_006719591.1:p.Ser2147fs, XP_011536916.1:p.Ser2059fs, XP_016875213.1:p.Ser1363fs

Select item 14904253053.

rs1490425305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:70552959 (GRCh38)
12:70946739 (GRCh37)
Canonical SPDI:: NC_000012.12:70552958:G:A
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.70552959G>A, NC_000012.11:g.70946739G>A, NG_029940.2:g.89482C>T, NM_002837.6:c.4551C>T, NM_002837.5:c.4551C>T, NM_002837.4:c.4551C>T, NM_001109754.4:c.5205C>T, NM_001109754.3:c.5205C>T, NM_001109754.2:c.5205C>T, NM_001206972.3:c.4281C>T, NM_001206972.2:c.4281C>T, NM_001206972.1:c.4281C>T, NM_001206971.3:c.4281C>T, NM_001206971.2:c.4281C>T, NM_001206971.1:c.4281C>T, NM_001330204.2:c.4941C>T, NM_001330204.1:c.4941C>T, XM_006719529.5:c.4551C>T, XM_006719529.4:c.4551C>T, XM_006719529.3:c.4551C>T, XM_006719529.2:c.4551C>T, XM_006719529.1:c.4551C>T, XM_006719528.2:c.5205C>T, XM_006719528.1:c.5205C>T, XM_011538614.2:c.4941C>T, XM_011538614.1:c.4941C>T, XM_017019724.1:c.2853C>T

Select item 14900865294.

rs1490086529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:70532169 (GRCh38)
12:70925949 (GRCh37)
Canonical SPDI:: NC_000012.12:70532168:C:T
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70532169C>T, NC_000012.11:g.70925949C>T, NG_029940.2:g.110272G>A, NM_002837.6:c.5716G>A, NM_002837.5:c.5716G>A, NM_002837.4:c.5716G>A, NM_001109754.4:c.6370G>A, NM_001109754.3:c.6370G>A, NM_001109754.2:c.6370G>A, NM_001206972.3:c.5446G>A, NM_001206972.2:c.5446G>A, NM_001206972.1:c.5446G>A, NM_001206971.3:c.5446G>A, NM_001206971.2:c.5446G>A, NM_001206971.1:c.5446G>A, NM_001330204.2:c.6106G>A, NM_001330204.1:c.6106G>A, XM_006719529.5:c.5716G>A, XM_006719529.4:c.5716G>A, XM_006719529.3:c.5716G>A, XM_006719529.2:c.5716G>A, XM_006719529.1:c.5716G>A, XM_006719528.2:c.6370G>A, XM_006719528.1:c.6370G>A, XM_011538614.2:c.6106G>A, XM_011538614.1:c.6106G>A, XM_017019724.1:c.4018G>A, NP_002828.3:p.Ala1906Thr, NP_001103224.1:p.Ala2124Thr, NP_001193901.1:p.Ala1816Thr, NP_001193900.1:p.Ala1816Thr, NP_001317133.1:p.Ala2036Thr, XP_006719592.1:p.Ala1906Thr, XP_006719591.1:p.Ala2124Thr, XP_011536916.1:p.Ala2036Thr, XP_016875213.1:p.Ala1340Thr

Select item 14894982695.

rs1489498269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:70592494 (GRCh38)
12:70986274 (GRCh37)
Canonical SPDI:: NC_000012.12:70592493:G:C
Gene:: PTPRB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70592494G>C, NC_000012.11:g.70986274G>C, NG_029940.2:g.49947C>G, NM_002837.6:c.914C>G, NM_002837.5:c.914C>G, NM_002837.4:c.914C>G, NM_001109754.4:c.1568C>G, NM_001109754.3:c.1568C>G, NM_001109754.2:c.1568C>G, NM_001206972.3:c.914C>G, NM_001206972.2:c.914C>G, NM_001206972.1:c.914C>G, NM_001206971.3:c.914C>G, NM_001206971.2:c.914C>G, NM_001206971.1:c.914C>G, NM_001330204.2:c.1568C>G, NM_001330204.1:c.1568C>G, XM_006719529.5:c.914C>G, XM_006719529.4:c.914C>G, XM_006719529.3:c.914C>G, XM_006719529.2:c.914C>G, XM_006719529.1:c.914C>G, XM_006719528.2:c.1568C>G, XM_006719528.1:c.1568C>G, XM_011538614.2:c.1568C>G, XM_011538614.1:c.1568C>G, XR_944651.2:n.1602C>G, XR_944651.1:n.1613C>G, NP_002828.3:p.Ser305Cys, NP_001103224.1:p.Ser523Cys, NP_001193901.1:p.Ser305Cys, NP_001193900.1:p.Ser305Cys, NP_001317133.1:p.Ser523Cys, XP_006719592.1:p.Ser305Cys, XP_006719591.1:p.Ser523Cys, XP_011536916.1:p.Ser523Cys

Select item 14884157726.

rs1488415772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:70609252 (GRCh38)
12:71003032 (GRCh37)
Canonical SPDI:: NC_000012.12:70609251:A:G
Gene:: PTPRB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70609252A>G, NC_000012.11:g.71003032A>G, NG_029940.2:g.33189T>C, NM_002837.6:c.142T>C, NM_002837.5:c.142T>C, NM_002837.4:c.142T>C, NM_001109754.4:c.796T>C, NM_001109754.3:c.796T>C, NM_001109754.2:c.796T>C, NM_001206972.3:c.142T>C, NM_001206972.2:c.142T>C, NM_001206972.1:c.142T>C, NM_001206971.3:c.142T>C, NM_001206971.2:c.142T>C, NM_001206971.1:c.142T>C, NM_001330204.2:c.796T>C, NM_001330204.1:c.796T>C, XM_006719529.5:c.142T>C, XM_006719529.4:c.142T>C, XM_006719529.3:c.142T>C, XM_006719529.2:c.142T>C, XM_006719529.1:c.142T>C, XM_006719528.2:c.796T>C, XM_006719528.1:c.796T>C, XM_011538614.2:c.796T>C, XM_011538614.1:c.796T>C, XR_944651.2:n.830T>C, XR_944651.1:n.841T>C

Select item 14872653007.

rs1487265300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:70540951 (GRCh38)
12:70934731 (GRCh37)
Canonical SPDI:: NC_000012.12:70540950:A:C
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_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=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.70540951A>C, NC_000012.11:g.70934731A>C, NG_029940.2:g.101490T>G, NM_002837.6:c.4847T>G, NM_002837.5:c.4847T>G, NM_002837.4:c.4847T>G, NM_001109754.4:c.5501T>G, NM_001109754.3:c.5501T>G, NM_001109754.2:c.5501T>G, NM_001206972.3:c.4577T>G, NM_001206972.2:c.4577T>G, NM_001206972.1:c.4577T>G, NM_001206971.3:c.4577T>G, NM_001206971.2:c.4577T>G, NM_001206971.1:c.4577T>G, NM_001330204.2:c.5237T>G, NM_001330204.1:c.5237T>G, XM_006719529.5:c.4847T>G, XM_006719529.4:c.4847T>G, XM_006719529.3:c.4847T>G, XM_006719529.2:c.4847T>G, XM_006719529.1:c.4847T>G, XM_006719528.2:c.5501T>G, XM_006719528.1:c.5501T>G, XM_011538614.2:c.5237T>G, XM_011538614.1:c.5237T>G, XR_007063360.1:n.12841A>C, XM_017019724.1:c.3149T>G, NP_002828.3:p.Leu1616Trp, NP_001103224.1:p.Leu1834Trp, NP_001193901.1:p.Leu1526Trp, NP_001193900.1:p.Leu1526Trp, NP_001317133.1:p.Leu1746Trp, XP_006719592.1:p.Leu1616Trp, XP_006719591.1:p.Leu1834Trp, XP_011536916.1:p.Leu1746Trp, XP_016875213.1:p.Leu1050Trp

Select item 14870324388.

rs1487032438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:70609767 (GRCh38)
12:71003547 (GRCh37)
Canonical SPDI:: NC_000012.12:70609766:C:A
Gene:: PTPRB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_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_000012.12:g.70609767C>A, NC_000012.11:g.71003547C>A, NG_029940.2:g.32674G>T, NM_002837.6:c.48G>T, NM_002837.5:c.48G>T, NM_002837.4:c.48G>T, NM_001206972.3:c.48G>T, NM_001206972.2:c.48G>T, NM_001206972.1:c.48G>T, NM_001206971.3:c.48G>T, NM_001206971.2:c.48G>T, NM_001206971.1:c.48G>T, XM_006719529.5:c.48G>T, XM_006719529.4:c.48G>T, XM_006719529.3:c.48G>T, XM_006719529.2:c.48G>T, XM_006719529.1:c.48G>T

Select item 14866449759.

rs1486644975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:70590150 (GRCh38)
12:70983930 (GRCh37)
Canonical SPDI:: NC_000012.12:70590149:C:G
Gene:: PTPRB (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.70590150C>G, NC_000012.11:g.70983930C>G, NG_029940.2:g.52291G>C, NM_002837.6:c.1210G>C, NM_002837.5:c.1210G>C, NM_002837.4:c.1210G>C, NM_001109754.4:c.1864G>C, NM_001109754.3:c.1864G>C, NM_001109754.2:c.1864G>C, NM_001206972.3:c.1210G>C, NM_001206972.2:c.1210G>C, NM_001206972.1:c.1210G>C, NM_001330204.2:c.1864G>C, NM_001330204.1:c.1864G>C, XM_006719529.5:c.1210G>C, XM_006719529.4:c.1210G>C, XM_006719529.3:c.1210G>C, XM_006719529.2:c.1210G>C, XM_006719529.1:c.1210G>C, XM_006719528.2:c.1864G>C, XM_006719528.1:c.1864G>C, XM_011538614.2:c.1864G>C, XM_011538614.1:c.1864G>C, XR_944651.2:n.1898G>C, XR_944651.1:n.1909G>C, NP_002828.3:p.Asp404His, NP_001103224.1:p.Asp622His, NP_001193901.1:p.Asp404His, NP_001317133.1:p.Asp622His, XP_006719592.1:p.Asp404His, XP_006719591.1:p.Asp622His, XP_011536916.1:p.Asp622His

Select item 148644537310.

rs1486445373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:70609122 (GRCh38)
12:71002902 (GRCh37)
Canonical SPDI:: NC_000012.12:70609121:T:A
Gene:: PTPRB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.70609122T>A, NC_000012.11:g.71002902T>A, NG_029940.2:g.33319A>T, NM_002837.6:c.272A>T, NM_002837.5:c.272A>T, NM_002837.4:c.272A>T, NM_001109754.4:c.926A>T, NM_001109754.3:c.926A>T, NM_001109754.2:c.926A>T, NM_001206972.3:c.272A>T, NM_001206972.2:c.272A>T, NM_001206972.1:c.272A>T, NM_001206971.3:c.272A>T, NM_001206971.2:c.272A>T, NM_001206971.1:c.272A>T, NM_001330204.2:c.926A>T, NM_001330204.1:c.926A>T, XM_006719529.5:c.272A>T, XM_006719529.4:c.272A>T, XM_006719529.3:c.272A>T, XM_006719529.2:c.272A>T, XM_006719529.1:c.272A>T, XM_006719528.2:c.926A>T, XM_006719528.1:c.926A>T, XM_011538614.2:c.926A>T, XM_011538614.1:c.926A>T, XR_944651.2:n.960A>T, XR_944651.1:n.971A>T, NP_002828.3:p.Tyr91Phe, NP_001103224.1:p.Tyr309Phe, NP_001193901.1:p.Tyr91Phe, NP_001193900.1:p.Tyr91Phe, NP_001317133.1:p.Tyr309Phe, XP_006719592.1:p.Tyr91Phe, XP_006719591.1:p.Tyr309Phe, XP_011536916.1:p.Tyr309Phe

Select item 148629212711.

rs1486292127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:70532047 (GRCh38)
12:70925827 (GRCh37)
Canonical SPDI:: NC_000012.12:70532046:C:G,NC_000012.12:70532046:C:T
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.70532047C>G, NC_000012.12:g.70532047C>T, NC_000012.11:g.70925827C>G, NC_000012.11:g.70925827C>T, NG_029940.2:g.110394G>C, NG_029940.2:g.110394G>A, NM_002837.6:c.5838G>C, NM_002837.6:c.5838G>A, NM_002837.5:c.5838G>C, NM_002837.5:c.5838G>A, NM_002837.4:c.5838G>C, NM_002837.4:c.5838G>A, NM_001109754.4:c.6492G>C, NM_001109754.4:c.6492G>A, NM_001109754.3:c.6492G>C, NM_001109754.3:c.6492G>A, NM_001109754.2:c.6492G>C, NM_001109754.2:c.6492G>A, NM_001206972.3:c.5568G>C, NM_001206972.3:c.5568G>A, NM_001206972.2:c.5568G>C, NM_001206972.2:c.5568G>A, NM_001206972.1:c.5568G>C, NM_001206972.1:c.5568G>A, NM_001206971.3:c.5568G>C, NM_001206971.3:c.5568G>A, NM_001206971.2:c.5568G>C, NM_001206971.2:c.5568G>A, NM_001206971.1:c.5568G>C, NM_001206971.1:c.5568G>A, NM_001330204.2:c.6228G>C, NM_001330204.2:c.6228G>A, NM_001330204.1:c.6228G>C, NM_001330204.1:c.6228G>A, XM_006719529.5:c.5838G>C, XM_006719529.5:c.5838G>A, XM_006719529.4:c.5838G>C, XM_006719529.4:c.5838G>A, XM_006719529.3:c.5838G>C, XM_006719529.3:c.5838G>A, XM_006719529.2:c.5838G>C, XM_006719529.2:c.5838G>A, XM_006719529.1:c.5838G>C, XM_006719529.1:c.5838G>A, XM_006719528.2:c.6492G>C, XM_006719528.2:c.6492G>A, XM_006719528.1:c.6492G>C, XM_006719528.1:c.6492G>A, XM_011538614.2:c.6228G>C, XM_011538614.2:c.6228G>A, XM_011538614.1:c.6228G>C, XM_011538614.1:c.6228G>A, XM_017019724.1:c.4140G>C, XM_017019724.1:c.4140G>A, NP_002828.3:p.Met1946Ile, NP_002828.3:p.Met1946Ile, NP_001103224.1:p.Met2164Ile, NP_001103224.1:p.Met2164Ile, NP_001193901.1:p.Met1856Ile, NP_001193901.1:p.Met1856Ile, NP_001193900.1:p.Met1856Ile, NP_001193900.1:p.Met1856Ile, NP_001317133.1:p.Met2076Ile, NP_001317133.1:p.Met2076Ile, XP_006719592.1:p.Met1946Ile, XP_006719592.1:p.Met1946Ile, XP_006719591.1:p.Met2164Ile, XP_006719591.1:p.Met2164Ile, XP_011536916.1:p.Met2076Ile, XP_011536916.1:p.Met2076Ile, XP_016875213.1:p.Met1380Ile, XP_016875213.1:p.Met1380Ile

Select item 148585160312.

rs1485851603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:70563098 (GRCh38)
12:70956878 (GRCh37)
Canonical SPDI:: NC_000012.12:70563097:G:A,NC_000012.12:70563097:G:C
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.70563098G>A, NC_000012.12:g.70563098G>C, NC_000012.11:g.70956878G>A, NC_000012.11:g.70956878G>C, NG_029940.2:g.79343C>T, NG_029940.2:g.79343C>G, NM_002837.6:c.3260C>T, NM_002837.6:c.3260C>G, NM_002837.5:c.3260C>T, NM_002837.5:c.3260C>G, NM_002837.4:c.3260C>T, NM_002837.4:c.3260C>G, NM_001109754.4:c.3914C>T, NM_001109754.4:c.3914C>G, NM_001109754.3:c.3914C>T, NM_001109754.3:c.3914C>G, NM_001109754.2:c.3914C>T, NM_001109754.2:c.3914C>G, NM_001206972.3:c.2990C>T, NM_001206972.3:c.2990C>G, NM_001206972.2:c.2990C>T, NM_001206972.2:c.2990C>G, NM_001206972.1:c.2990C>T, NM_001206972.1:c.2990C>G, NM_001206971.3:c.2990C>T, NM_001206971.3:c.2990C>G, NM_001206971.2:c.2990C>T, NM_001206971.2:c.2990C>G, NM_001206971.1:c.2990C>T, NM_001206971.1:c.2990C>G, NM_001330204.2:c.3650C>T, NM_001330204.2:c.3650C>G, NM_001330204.1:c.3650C>T, NM_001330204.1:c.3650C>G, XM_006719529.5:c.3260C>T, XM_006719529.5:c.3260C>G, XM_006719529.4:c.3260C>T, XM_006719529.4:c.3260C>G, XM_006719529.3:c.3260C>T, XM_006719529.3:c.3260C>G, XM_006719529.2:c.3260C>T, XM_006719529.2:c.3260C>G, XM_006719529.1:c.3260C>T, XM_006719529.1:c.3260C>G, XM_006719528.2:c.3914C>T, XM_006719528.2:c.3914C>G, XM_006719528.1:c.3914C>T, XM_006719528.1:c.3914C>G, XM_011538614.2:c.3650C>T, XM_011538614.2:c.3650C>G, XM_011538614.1:c.3650C>T, XM_011538614.1:c.3650C>G, XR_944651.2:n.4053C>T, XR_944651.2:n.4053C>G, XR_944651.1:n.4064C>T, XR_944651.1:n.4064C>G, XM_017019724.1:c.1562C>T, XM_017019724.1:c.1562C>G, NP_002828.3:p.Ala1087Val, NP_002828.3:p.Ala1087Gly, NP_001103224.1:p.Ala1305Val, NP_001103224.1:p.Ala1305Gly, NP_001193901.1:p.Ala997Val, NP_001193901.1:p.Ala997Gly, NP_001193900.1:p.Ala997Val, NP_001193900.1:p.Ala997Gly, NP_001317133.1:p.Ala1217Val, NP_001317133.1:p.Ala1217Gly, XP_006719592.1:p.Ala1087Val, XP_006719592.1:p.Ala1087Gly, XP_006719591.1:p.Ala1305Val, XP_006719591.1:p.Ala1305Gly, XP_011536916.1:p.Ala1217Val, XP_011536916.1:p.Ala1217Gly, XP_016875213.1:p.Ala521Val, XP_016875213.1:p.Ala521Gly

Select item 148530281213.

rs1485302812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:70555294 (GRCh38)
12:70949074 (GRCh37)
Canonical SPDI:: NC_000012.12:70555293:G:T
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.70555294G>T, NC_000012.11:g.70949074G>T, NG_029940.2:g.87147C>A, NM_002837.6:c.4355C>A, NM_002837.5:c.4355C>A, NM_002837.4:c.4355C>A, NM_001109754.4:c.5009C>A, NM_001109754.3:c.5009C>A, NM_001109754.2:c.5009C>A, NM_001206972.3:c.4085C>A, NM_001206972.2:c.4085C>A, NM_001206972.1:c.4085C>A, NM_001206971.3:c.4085C>A, NM_001206971.2:c.4085C>A, NM_001206971.1:c.4085C>A, NM_001330204.2:c.4745C>A, NM_001330204.1:c.4745C>A, XM_006719529.5:c.4355C>A, XM_006719529.4:c.4355C>A, XM_006719529.3:c.4355C>A, XM_006719529.2:c.4355C>A, XM_006719529.1:c.4355C>A, XM_006719528.2:c.5009C>A, XM_006719528.1:c.5009C>A, XM_011538614.2:c.4745C>A, XM_011538614.1:c.4745C>A, XM_017019724.1:c.2657C>A, NP_002828.3:p.Pro1452His, NP_001103224.1:p.Pro1670His, NP_001193901.1:p.Pro1362His, NP_001193900.1:p.Pro1362His, NP_001317133.1:p.Pro1582His, XP_006719592.1:p.Pro1452His, XP_006719591.1:p.Pro1670His, XP_011536916.1:p.Pro1582His, XP_016875213.1:p.Pro886His

Select item 148465324814.

rs1484653248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:70536030 (GRCh38)
12:70929810 (GRCh37)
Canonical SPDI:: NC_000012.12:70536029:C:T
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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_000012.12:g.70536030C>T, NC_000012.11:g.70929810C>T, NG_029940.2:g.106411G>A, NM_002837.6:c.5422G>A, NM_002837.5:c.5422G>A, NM_002837.4:c.5422G>A, NM_001109754.4:c.6076G>A, NM_001109754.3:c.6076G>A, NM_001109754.2:c.6076G>A, NM_001206972.3:c.5152G>A, NM_001206972.2:c.5152G>A, NM_001206972.1:c.5152G>A, NM_001206971.3:c.5152G>A, NM_001206971.2:c.5152G>A, NM_001206971.1:c.5152G>A, NM_001330204.2:c.5812G>A, NM_001330204.1:c.5812G>A, XM_006719529.5:c.5422G>A, XM_006719529.4:c.5422G>A, XM_006719529.3:c.5422G>A, XM_006719529.2:c.5422G>A, XM_006719529.1:c.5422G>A, XM_006719528.2:c.6076G>A, XM_006719528.1:c.6076G>A, XM_011538614.2:c.5812G>A, XM_011538614.1:c.5812G>A, XM_017019724.1:c.3724G>A, NP_002828.3:p.Gly1808Ser, NP_001103224.1:p.Gly2026Ser, NP_001193901.1:p.Gly1718Ser, NP_001193900.1:p.Gly1718Ser, NP_001317133.1:p.Gly1938Ser, XP_006719592.1:p.Gly1808Ser, XP_006719591.1:p.Gly2026Ser, XP_011536916.1:p.Gly1938Ser, XP_016875213.1:p.Gly1242Ser

Select item 148392443215.

rs1483924432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:70576387 (GRCh38)
12:70970167 (GRCh37)
Canonical SPDI:: NC_000012.12:70576386:C:T
Gene:: PTPRB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.70576387C>T, NC_000012.11:g.70970167C>T, NG_029940.2:g.66054G>A, NM_002837.6:c.2183G>A, NM_002837.5:c.2183G>A, NM_002837.4:c.2183G>A, NM_001109754.4:c.2837G>A, NM_001109754.3:c.2837G>A, NM_001109754.2:c.2837G>A, NM_001206972.3:c.2183G>A, NM_001206972.2:c.2183G>A, NM_001206972.1:c.2183G>A, NM_001206971.3:c.1913G>A, NM_001206971.2:c.1913G>A, NM_001206971.1:c.1913G>A, XM_006719529.5:c.2183G>A, XM_006719529.4:c.2183G>A, XM_006719529.3:c.2183G>A, XM_006719529.2:c.2183G>A, XM_006719529.1:c.2183G>A, XM_006719528.2:c.2837G>A, XM_006719528.1:c.2837G>A, XR_944651.2:n.2871G>A, XR_944651.1:n.2882G>A, XM_017019724.1:c.485G>A, NP_002828.3:p.Arg728Gln, NP_001103224.1:p.Arg946Gln, NP_001193901.1:p.Arg728Gln, NP_001193900.1:p.Arg638Gln, XP_006719592.1:p.Arg728Gln, XP_006719591.1:p.Arg946Gln, XP_016875213.1:p.Arg162Gln

Select item 148353836616.

rs1483538366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:70538988 (GRCh38)
12:70932768 (GRCh37)
Canonical SPDI:: NC_000012.12:70538987:C:T
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.70538988C>T, NC_000012.11:g.70932768C>T, NG_029940.2:g.103453G>A, NM_002837.6:c.5151G>A, NM_002837.5:c.5151G>A, NM_002837.4:c.5151G>A, NM_001109754.4:c.5805G>A, NM_001109754.3:c.5805G>A, NM_001109754.2:c.5805G>A, NM_001206972.3:c.4881G>A, NM_001206972.2:c.4881G>A, NM_001206972.1:c.4881G>A, NM_001206971.3:c.4881G>A, NM_001206971.2:c.4881G>A, NM_001206971.1:c.4881G>A, NM_001330204.2:c.5541G>A, NM_001330204.1:c.5541G>A, XM_006719529.5:c.5151G>A, XM_006719529.4:c.5151G>A, XM_006719529.3:c.5151G>A, XM_006719529.2:c.5151G>A, XM_006719529.1:c.5151G>A, XM_006719528.2:c.5805G>A, XM_006719528.1:c.5805G>A, XM_011538614.2:c.5541G>A, XM_011538614.1:c.5541G>A, XR_007063360.1:n.10878C>T, XM_017019724.1:c.3453G>A

Select item 148292821917.

rs1482928219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:70540862 (GRCh38)
12:70934642 (GRCh37)
Canonical SPDI:: NC_000012.12:70540861:C:T
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.70540862C>T, NC_000012.11:g.70934642C>T, NG_029940.2:g.101579G>A, NM_002837.6:c.4936G>A, NM_002837.5:c.4936G>A, NM_002837.4:c.4936G>A, NM_001109754.4:c.5590G>A, NM_001109754.3:c.5590G>A, NM_001109754.2:c.5590G>A, NM_001206972.3:c.4666G>A, NM_001206972.2:c.4666G>A, NM_001206972.1:c.4666G>A, NM_001206971.3:c.4666G>A, NM_001206971.2:c.4666G>A, NM_001206971.1:c.4666G>A, NM_001330204.2:c.5326G>A, NM_001330204.1:c.5326G>A, XM_006719529.5:c.4936G>A, XM_006719529.4:c.4936G>A, XM_006719529.3:c.4936G>A, XM_006719529.2:c.4936G>A, XM_006719529.1:c.4936G>A, XM_006719528.2:c.5590G>A, XM_006719528.1:c.5590G>A, XM_011538614.2:c.5326G>A, XM_011538614.1:c.5326G>A, XR_007063360.1:n.12752C>T, XM_017019724.1:c.3238G>A, NP_002828.3:p.Val1646Met, NP_001103224.1:p.Val1864Met, NP_001193901.1:p.Val1556Met, NP_001193900.1:p.Val1556Met, NP_001317133.1:p.Val1776Met, XP_006719592.1:p.Val1646Met, XP_006719591.1:p.Val1864Met, XP_011536916.1:p.Val1776Met, XP_016875213.1:p.Val1080Met

Select item 148247782718.

rs1482477827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:70592375 (GRCh38)
12:70986155 (GRCh37)
Canonical SPDI:: NC_000012.12:70592374:A:G
Gene:: PTPRB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70592375A>G, NC_000012.11:g.70986155A>G, NG_029940.2:g.50066T>C, NM_002837.6:c.1033T>C, NM_002837.5:c.1033T>C, NM_002837.4:c.1033T>C, NM_001109754.4:c.1687T>C, NM_001109754.3:c.1687T>C, NM_001109754.2:c.1687T>C, NM_001206972.3:c.1033T>C, NM_001206972.2:c.1033T>C, NM_001206972.1:c.1033T>C, NM_001206971.3:c.1033T>C, NM_001206971.2:c.1033T>C, NM_001206971.1:c.1033T>C, NM_001330204.2:c.1687T>C, NM_001330204.1:c.1687T>C, XM_006719529.5:c.1033T>C, XM_006719529.4:c.1033T>C, XM_006719529.3:c.1033T>C, XM_006719529.2:c.1033T>C, XM_006719529.1:c.1033T>C, XM_006719528.2:c.1687T>C, XM_006719528.1:c.1687T>C, XM_011538614.2:c.1687T>C, XM_011538614.1:c.1687T>C, XR_944651.2:n.1721T>C, XR_944651.1:n.1732T>C, NP_002828.3:p.Phe345Leu, NP_001103224.1:p.Phe563Leu, NP_001193901.1:p.Phe345Leu, NP_001193900.1:p.Phe345Leu, NP_001317133.1:p.Phe563Leu, XP_006719592.1:p.Phe345Leu, XP_006719591.1:p.Phe563Leu, XP_011536916.1:p.Phe563Leu

Select item 148162950019.

rs1481629500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:70559434 (GRCh38)
12:70953214 (GRCh37)
Canonical SPDI:: NC_000012.12:70559433:A:C
Gene:: PTPRB (Varview), LOC105369828 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70559434A>C, NC_000012.11:g.70953214A>C, NG_029940.2:g.83007T>G, NM_002837.6:c.3969T>G, NM_002837.5:c.3969T>G, NM_002837.4:c.3969T>G, NM_001109754.4:c.4623T>G, NM_001109754.3:c.4623T>G, NM_001109754.2:c.4623T>G, NM_001206972.3:c.3699T>G, NM_001206972.2:c.3699T>G, NM_001206972.1:c.3699T>G, NM_001206971.3:c.3699T>G, NM_001206971.2:c.3699T>G, NM_001206971.1:c.3699T>G, NM_001330204.2:c.4359T>G, NM_001330204.1:c.4359T>G, XM_006719529.5:c.3969T>G, XM_006719529.4:c.3969T>G, XM_006719529.3:c.3969T>G, XM_006719529.2:c.3969T>G, XM_006719529.1:c.3969T>G, XM_006719528.2:c.4623T>G, XM_006719528.1:c.4623T>G, XM_011538614.2:c.4359T>G, XM_011538614.1:c.4359T>G, XM_017019724.1:c.2271T>G

Select item 148137474520.

rs1481374745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:70587013 (GRCh38)
12:70980793 (GRCh37)
Canonical SPDI:: NC_000012.12:70587012:T:C
Gene:: PTPRB (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.70587013T>C, NC_000012.11:g.70980793T>C, NG_029940.2:g.55428A>G, NM_002837.6:c.1651A>G, NM_002837.5:c.1651A>G, NM_002837.4:c.1651A>G, NM_001109754.4:c.2305A>G, NM_001109754.3:c.2305A>G, NM_001109754.2:c.2305A>G, NM_001206972.3:c.1651A>G, NM_001206972.2:c.1651A>G, NM_001206972.1:c.1651A>G, NM_001206971.3:c.1381A>G, NM_001206971.2:c.1381A>G, NM_001206971.1:c.1381A>G, NM_001330204.2:c.2305A>G, NM_001330204.1:c.2305A>G, XM_006719529.5:c.1651A>G, XM_006719529.4:c.1651A>G, XM_006719529.3:c.1651A>G, XM_006719529.2:c.1651A>G, XM_006719529.1:c.1651A>G, XM_006719528.2:c.2305A>G, XM_006719528.1:c.2305A>G, XM_011538614.2:c.2305A>G, XM_011538614.1:c.2305A>G, XR_944651.2:n.2339A>G, XR_944651.1:n.2350A>G, NP_002828.3:p.Arg551Gly, NP_001103224.1:p.Arg769Gly, NP_001193901.1:p.Arg551Gly, NP_001193900.1:p.Arg461Gly, NP_001317133.1:p.Arg769Gly, XP_006719592.1:p.Arg551Gly, XP_006719591.1:p.Arg769Gly, XP_011536916.1:p.Arg769Gly

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