SNP Links for Protein (Select 56090539) - SNP

Links from Protein

Items: 1 to 20 of 209

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Select item 14899805171.

rs1489980517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:81833847 (GRCh38)
17:79791723 (GRCh37)
Canonical SPDI:: NC_000017.11:81833846:A:C,NC_000017.11:81833846:A:G
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81833847A>C, NC_000017.11:g.81833847A>G, NC_000017.10:g.79791723A>C, NC_000017.10:g.79791723A>G, NW_021160021.1:g.47340A>C, NW_021160021.1:g.47340A>G, NM_001007533.4:c.347T>G, NM_001007533.4:c.347T>C, NM_001007533.3:c.347T>G, NM_001007533.3:c.347T>C, NP_001007534.1:p.Leu116Arg, NP_001007534.1:p.Leu116Pro

Select item 14885919302.

rs1488591930 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:81834635 (GRCh38)
17:79792512 (GRCh37)
Canonical SPDI:: NC_000017.11:81834635::G
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.81834635_81834636insG, NC_000017.10:g.79792511_79792512insG, NW_021160021.1:g.48128_48129insG, NM_001007533.4:c.208_209insC, NM_001007533.3:c.208_209insC, NP_001007534.1:p.Glu70fs

Select item 14885873953.

rs1488587395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81834588 (GRCh38)
17:79792464 (GRCh37)
Canonical SPDI:: NC_000017.11:81834587:A:G
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81834588A>G, NC_000017.10:g.79792464A>G, NW_021160021.1:g.48081A>G, NM_001007533.4:c.256T>C, NM_001007533.3:c.256T>C, NP_001007534.1:p.Tyr86His

Select item 14766255734.

rs1476625573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:81833731 (GRCh38)
17:79791607 (GRCh37)
Canonical SPDI:: NC_000017.11:81833730:A:T
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: stop_lost,upstream_transcript_variant,2KB_upstream_variant,terminator_codon_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81833731A>T, NC_000017.10:g.79791607A>T, NW_021160021.1:g.47224A>T, NM_001007533.4:c.463T>A, NM_001007533.3:c.463T>A, NP_001007534.1:p.Ter155Arg

Select item 14724375775.

rs1472437577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81834534 (GRCh38)
17:79792410 (GRCh37)
Canonical SPDI:: NC_000017.11:81834533:C:T
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81834534C>T, NC_000017.10:g.79792410C>T, NW_021160021.1:g.48027C>T, NM_001007533.4:c.310G>A, NM_001007533.3:c.310G>A, NP_001007534.1:p.Ala104Thr

Select item 14663850346.

rs1466385034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81833779 (GRCh38)
17:79791655 (GRCh37)
Canonical SPDI:: NC_000017.11:81833778:G:T
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_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_000017.11:g.81833779G>T, NC_000017.10:g.79791655G>T, NW_021160021.1:g.47272G>T, NM_001007533.4:c.415C>A, NM_001007533.3:c.415C>A, NP_001007534.1:p.Pro139Thr

Select item 14623160717.

rs1462316071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81834554 (GRCh38)
17:79792430 (GRCh37)
Canonical SPDI:: NC_000017.11:81834553:C:T
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81834554C>T, NC_000017.10:g.79792430C>T, NW_021160021.1:g.48047C>T, NM_001007533.4:c.290G>A, NM_001007533.3:c.290G>A, NP_001007534.1:p.Gly97Asp

Select item 14616944748.

rs1461694474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:81834772 (GRCh38)
17:79792648 (GRCh37)
Canonical SPDI:: NC_000017.11:81834771:T:C,NC_000017.11:81834771:T:G
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81834772T>C, NC_000017.11:g.81834772T>G, NC_000017.10:g.79792648T>C, NC_000017.10:g.79792648T>G, NW_021160021.1:g.48265T>C, NW_021160021.1:g.48265T>G, NM_001007533.4:c.182A>G, NM_001007533.4:c.182A>C, NM_001007533.3:c.182A>G, NM_001007533.3:c.182A>C, NP_001007534.1:p.His61Arg, NP_001007534.1:p.His61Pro

Select item 14609814169.

rs1460981416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81834836 (GRCh38)
17:79792712 (GRCh37)
Canonical SPDI:: NC_000017.11:81834835:G:T
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.81834836G>T, NC_000017.10:g.79792712G>T, NW_021160021.1:g.48329G>T, NM_001007533.4:c.118C>A, NM_001007533.3:c.118C>A, NP_001007534.1:p.Gln40Lys

Select item 145630718710.

rs1456307187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81833814 (GRCh38)
17:79791690 (GRCh37)
Canonical SPDI:: NC_000017.11:81833813:T:C
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.81833814T>C, NC_000017.10:g.79791690T>C, NW_021160021.1:g.47307T>C, NM_001007533.4:c.380A>G, NM_001007533.3:c.380A>G, NP_001007534.1:p.Asn127Ser

Select item 143423617911.

rs1434236179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81833751 (GRCh38)
17:79791627 (GRCh37)
Canonical SPDI:: NC_000017.11:81833750:A:G
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81833751A>G, NC_000017.10:g.79791627A>G, NW_021160021.1:g.47244A>G, NM_001007533.4:c.443T>C, NM_001007533.3:c.443T>C, NP_001007534.1:p.Phe148Ser

Select item 143314877512.

rs1433148775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81834879 (GRCh38)
17:79792755 (GRCh37)
Canonical SPDI:: NC_000017.11:81834878:G:A
Gene:: PPP1R27 (Varview), MCRIP1 (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=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81834879G>A, NC_000017.10:g.79792755G>A, NW_021160021.1:g.48372G>A, NM_001007533.4:c.75C>T, NM_001007533.3:c.75C>T

Select item 143081288413.

rs1430812884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81833791 (GRCh38)
17:79791667 (GRCh37)
Canonical SPDI:: NC_000017.11:81833790:C:G,NC_000017.11:81833790:C:T
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.81833791C>G, NC_000017.11:g.81833791C>T, NC_000017.10:g.79791667C>G, NC_000017.10:g.79791667C>T, NW_021160021.1:g.47284C>G, NW_021160021.1:g.47284C>T, NM_001007533.4:c.403G>C, NM_001007533.4:c.403G>A, NM_001007533.3:c.403G>C, NM_001007533.3:c.403G>A, NP_001007534.1:p.Asp135His, NP_001007534.1:p.Asp135Asn

Select item 142998826814.

rs1429988268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81833801 (GRCh38)
17:79791677 (GRCh37)
Canonical SPDI:: NC_000017.11:81833800:G:A
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81833801G>A, NC_000017.10:g.79791677G>A, NW_021160021.1:g.47294G>A, NM_001007533.4:c.393C>T, NM_001007533.3:c.393C>T

Select item 142110724915.

rs1421107249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:81834596 (GRCh38)
17:79792472 (GRCh37)
Canonical SPDI:: NC_000017.11:81834595:A:C,NC_000017.11:81834595:A:G
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
C=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.81834596A>C, NC_000017.11:g.81834596A>G, NC_000017.10:g.79792472A>C, NC_000017.10:g.79792472A>G, NW_021160021.1:g.48089A>C, NW_021160021.1:g.48089A>G, NM_001007533.4:c.248T>G, NM_001007533.4:c.248T>C, NM_001007533.3:c.248T>G, NM_001007533.3:c.248T>C, NP_001007534.1:p.Leu83Arg, NP_001007534.1:p.Leu83Pro

Select item 141533433416.

rs1415334334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81834542 (GRCh38)
17:79792418 (GRCh37)
Canonical SPDI:: NC_000017.11:81834541:A:C
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.81834542A>C, NC_000017.10:g.79792418A>C, NW_021160021.1:g.48035A>C, NM_001007533.4:c.302T>G, NM_001007533.3:c.302T>G, NP_001007534.1:p.Leu101Arg

Select item 141408609317.

rs1414086093 [Homo sapiens]

Variant type:: DEL
Alleles:: GTC>- [Show Flanks]
Chromosome:: 17:81834577 (GRCh38)
17:79792453 (GRCh37)
Canonical SPDI:: NC_000017.11:81834576:GTC:
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: inframe_deletion,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81834577_81834579del, NC_000017.10:g.79792453_79792455del, NW_021160021.1:g.48070_48072del, NM_001007533.4:c.265_267del, NM_001007533.3:c.265_267del, NP_001007534.1:p.Asp89del

Select item 141242894518.

rs1412428945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81833737 (GRCh38)
17:79791613 (GRCh37)
Canonical SPDI:: NC_000017.11:81833736:T:C
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.81833737T>C, NC_000017.10:g.79791613T>C, NW_021160021.1:g.47230T>C, NM_001007533.4:c.457A>G, NM_001007533.3:c.457A>G, NP_001007534.1:p.Met153Val

Select item 140740808219.

rs1407408082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81834644 (GRCh38)
17:79792520 (GRCh37)
Canonical SPDI:: NC_000017.11:81834643:G:A,NC_000017.11:81834643:G:C
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/3 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81834644G>A, NC_000017.11:g.81834644G>C, NC_000017.10:g.79792520G>A, NC_000017.10:g.79792520G>C, NW_021160021.1:g.48137G>A, NW_021160021.1:g.48137G>C, NM_001007533.4:c.200C>T, NM_001007533.4:c.200C>G, NM_001007533.3:c.200C>T, NM_001007533.3:c.200C>G, NP_001007534.1:p.Ala67Val, NP_001007534.1:p.Ala67Gly

Select item 140096160120.

rs1400961601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81833735 (GRCh38)
17:79791611 (GRCh37)
Canonical SPDI:: NC_000017.11:81833734:C:T
Gene:: PPP1R27 (Varview), MCRIP1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81833735C>T, NC_000017.10:g.79791611C>T, NW_021160021.1:g.47228C>T, NM_001007533.4:c.459G>A, NM_001007533.3:c.459G>A, NP_001007534.1:p.Met153Ile

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