SNP Links for Protein (Select 113204627) - SNP

Links from Protein

Items: 1 to 20 of 287

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Select item 14875426331.

rs1487542633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43502648 (GRCh38)
22:43898528 (GRCh37)
Canonical SPDI:: NC_000022.11:43502647:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43502648C>T, NC_000022.10:g.43898528C>T, NM_001362786.2:c.753C>T, NM_001362786.1:c.753C>T, NM_001044370.2:c.753C>T, NM_001044370.1:c.753C>T, NM_001585.2:c.753C>T, NM_001585.1:c.681C>T

Select item 14868851742.

rs1486885174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43435114 (GRCh38)
22:43831034 (GRCh37)
Canonical SPDI:: NC_000022.11:43435113:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43435114C>T, NC_000022.10:g.43831034C>T, NM_001362786.2:c.305C>T, NM_001362786.1:c.305C>T, NM_001044370.2:c.305C>T, NM_001044370.1:c.305C>T, NM_001585.2:c.305C>T, NM_001585.1:c.233C>T, NP_001349715.1:p.Thr102Met, NP_001037835.1:p.Thr102Met

Select item 14853581843.

rs1485358184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43435041 (GRCh38)
22:43830961 (GRCh37)
Canonical SPDI:: NC_000022.11:43435040:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43435041C>T, NC_000022.10:g.43830961C>T, NM_001362786.2:c.232C>T, NM_001362786.1:c.232C>T, NM_001044370.2:c.232C>T, NM_001044370.1:c.232C>T, NM_001585.2:c.232C>T, NM_001585.1:c.160C>T, NP_001349715.1:p.Pro78Ser, NP_001037835.1:p.Pro78Ser

Select item 14797452284.

rs1479745228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43425103 (GRCh38)
22:43821109 (GRCh37)
Canonical SPDI:: NC_000022.11:43425102:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.43425103C>T, NC_000022.10:g.43821109C>T, NM_001362786.2:c.118C>T, NM_001362786.1:c.118C>T, NM_001044370.2:c.118C>T, NM_001044370.1:c.118C>T, NM_001585.2:c.118C>T, NM_001585.1:c.46C>T, NP_001349715.1:p.His40Tyr, NP_001037835.1:p.His40Tyr

Select item 14778649695.

rs1477864969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:43502671 (GRCh38)
22:43898551 (GRCh37)
Canonical SPDI:: NC_000022.11:43502670:T:C
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43502671T>C, NC_000022.10:g.43898551T>C, NM_001362786.2:c.776T>C, NM_001362786.1:c.776T>C, NM_001044370.2:c.776T>C, NM_001044370.1:c.776T>C, NM_001585.2:c.776T>C, NM_001585.1:c.704T>C, NP_001349715.1:p.Met259Thr, NP_001037835.1:p.Met259Thr

Select item 14760331596.

rs1476033159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43498341 (GRCh38)
22:43894221 (GRCh37)
Canonical SPDI:: NC_000022.11:43498340:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43498341C>T, NC_000022.10:g.43894221C>T, NM_001362786.2:c.739C>T, NM_001362786.1:c.739C>T, NM_001044370.2:c.739C>T, NM_001044370.1:c.739C>T, NM_001585.2:c.739C>T, NM_001585.1:c.667C>T, NP_001349715.1:p.Pro247Ser, NP_001037835.1:p.Pro247Ser

Select item 14722023257.

rs1472202325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:43474780 (GRCh38)
22:43870660 (GRCh37)
Canonical SPDI:: NC_000022.11:43474779:G:A,NC_000022.11:43474779:G:T
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43474780G>A, NC_000022.11:g.43474780G>T, NC_000022.10:g.43870660G>A, NC_000022.10:g.43870660G>T, NM_001362786.2:c.451G>A, NM_001362786.2:c.451G>T, NM_001362786.1:c.451G>A, NM_001362786.1:c.451G>T, NM_001044370.2:c.451G>A, NM_001044370.2:c.451G>T, NM_001044370.1:c.451G>A, NM_001044370.1:c.451G>T, NM_001585.2:c.451G>A, NM_001585.2:c.451G>T, NM_001585.1:c.379G>A, NM_001585.1:c.379G>T, NP_001349715.1:p.Glu151Lys, NP_001349715.1:p.Glu151Ter, NP_001037835.1:p.Glu151Lys, NP_001037835.1:p.Glu151Ter

Select item 14712216558.

rs1471221655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:43505564 (GRCh38)
22:43901444 (GRCh37)
Canonical SPDI:: NC_000022.11:43505563:A:G
Gene:: MPPED1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.43505564A>G, NC_000022.10:g.43901444A>G, NM_001362786.2:c.929A>G, NM_001362786.1:c.929A>G, NM_001044370.2:c.929A>G, NM_001044370.1:c.929A>G, NM_001585.2:c.929A>G, NM_001585.1:c.857A>G, NP_001349715.1:p.Gln310Arg, NP_001037835.1:p.Gln310Arg

Select item 14693668809.

rs1469366880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43435208 (GRCh38)
22:43831128 (GRCh37)
Canonical SPDI:: NC_000022.11:43435207:G:A
Gene:: MPPED1 (Varview)
Functional Consequence:: 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_000022.11:g.43435208G>A, NC_000022.10:g.43831128G>A, NM_001362786.2:c.399G>A, NM_001362786.1:c.399G>A, NM_001044370.2:c.399G>A, NM_001044370.1:c.399G>A, NM_001585.2:c.399G>A, NM_001585.1:c.327G>A

Select item 146320093810.

rs1463200938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43498309 (GRCh38)
22:43894189 (GRCh37)
Canonical SPDI:: NC_000022.11:43498308:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43498309C>T, NC_000022.10:g.43894189C>T, NM_001362786.2:c.707C>T, NM_001362786.1:c.707C>T, NM_001044370.2:c.707C>T, NM_001044370.1:c.707C>T, NM_001585.2:c.707C>T, NM_001585.1:c.635C>T, NP_001349715.1:p.Pro236Leu, NP_001037835.1:p.Pro236Leu

Select item 145333545511.

rs1453335455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43435079 (GRCh38)
22:43830999 (GRCh37)
Canonical SPDI:: NC_000022.11:43435078:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43435079C>T, NC_000022.10:g.43830999C>T, NM_001362786.2:c.270C>T, NM_001362786.1:c.270C>T, NM_001044370.2:c.270C>T, NM_001044370.1:c.270C>T, NM_001585.2:c.270C>T, NM_001585.1:c.198C>T

Select item 144897576412.

rs1448975764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43474762 (GRCh38)
22:43870642 (GRCh37)
Canonical SPDI:: NC_000022.11:43474761:G:A
Gene:: MPPED1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43474762G>A, NC_000022.10:g.43870642G>A, NM_001362786.2:c.433G>A, NM_001362786.1:c.433G>A, NM_001044370.2:c.433G>A, NM_001044370.1:c.433G>A, NM_001585.2:c.433G>A, NM_001585.1:c.361G>A, NP_001349715.1:p.Val145Met, NP_001037835.1:p.Val145Met

Select item 144115293613.

rs1441152936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:43435168 (GRCh38)
22:43831088 (GRCh37)
Canonical SPDI:: NC_000022.11:43435167:C:G
Gene:: MPPED1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43435168C>G, NC_000022.10:g.43831088C>G, NM_001362786.2:c.359C>G, NM_001362786.1:c.359C>G, NM_001044370.2:c.359C>G, NM_001044370.1:c.359C>G, NM_001585.2:c.359C>G, NM_001585.1:c.287C>G, NP_001349715.1:p.Thr120Ser, NP_001037835.1:p.Thr120Ser

Select item 143604261514.

rs1436042615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:43425126 (GRCh38)
22:43821132 (GRCh37)
Canonical SPDI:: NC_000022.11:43425125:G:A,NC_000022.11:43425125:G:C
Gene:: MPPED1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.43425126G>A, NC_000022.11:g.43425126G>C, NC_000022.10:g.43821132G>A, NC_000022.10:g.43821132G>C, NM_001362786.2:c.141G>A, NM_001362786.2:c.141G>C, NM_001362786.1:c.141G>A, NM_001362786.1:c.141G>C, NM_001044370.2:c.141G>A, NM_001044370.2:c.141G>C, NM_001044370.1:c.141G>A, NM_001044370.1:c.141G>C, NM_001585.2:c.141G>A, NM_001585.2:c.141G>C, NM_001585.1:c.69G>A, NM_001585.1:c.69G>C

Select item 143577568215.

rs1435775682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43474915 (GRCh38)
22:43870795 (GRCh37)
Canonical SPDI:: NC_000022.11:43474914:G:A
Gene:: MPPED1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43474915G>A, NC_000022.10:g.43870795G>A, NM_001362786.2:c.586G>A, NM_001362786.1:c.586G>A, NM_001044370.2:c.586G>A, NM_001044370.1:c.586G>A, NM_001585.2:c.586G>A, NM_001585.1:c.514G>A, NP_001349715.1:p.Asp196Asn, NP_001037835.1:p.Asp196Asn

Select item 143452654916.

rs1434526549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43425168 (GRCh38)
22:43821174 (GRCh37)
Canonical SPDI:: NC_000022.11:43425167:C:T
Gene:: MPPED1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43425168C>T, NC_000022.10:g.43821174C>T, NM_001362786.2:c.183C>T, NM_001362786.1:c.183C>T, NM_001044370.2:c.183C>T, NM_001044370.1:c.183C>T, NM_001585.2:c.183C>T, NM_001585.1:c.111C>T

Select item 143267780917.

rs1432677809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:43435144 (GRCh38)
22:43831064 (GRCh37)
Canonical SPDI:: NC_000022.11:43435143:T:A
Gene:: MPPED1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43435144T>A, NC_000022.10:g.43831064T>A, NM_001362786.2:c.335T>A, NM_001362786.1:c.335T>A, NM_001044370.2:c.335T>A, NM_001044370.1:c.335T>A, NM_001585.2:c.335T>A, NM_001585.1:c.263T>A, NP_001349715.1:p.Val112Glu, NP_001037835.1:p.Val112Glu

Select item 142806547618.

rs1428065476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43498311 (GRCh38)
22:43894191 (GRCh37)
Canonical SPDI:: NC_000022.11:43498310:G:A
Gene:: MPPED1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.43498311G>A, NC_000022.10:g.43894191G>A, NM_001362786.2:c.709G>A, NM_001362786.1:c.709G>A, NM_001044370.2:c.709G>A, NM_001044370.1:c.709G>A, NM_001585.2:c.709G>A, NM_001585.1:c.637G>A, NP_001349715.1:p.Glu237Lys, NP_001037835.1:p.Glu237Lys

Select item 142638589519.

rs1426385895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:43498295 (GRCh38)
22:43894175 (GRCh37)
Canonical SPDI:: NC_000022.11:43498294:A:G
Gene:: MPPED1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43498295A>G, NC_000022.10:g.43894175A>G, NM_001362786.2:c.693A>G, NM_001362786.1:c.693A>G, NM_001044370.2:c.693A>G, NM_001044370.1:c.693A>G, NM_001585.2:c.693A>G, NM_001585.1:c.621A>G

Select item 142554899920.

rs1425548999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:43505551 (GRCh38)
22:43901431 (GRCh37)
Canonical SPDI:: NC_000022.11:43505550:A:G
Gene:: MPPED1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43505551A>G, NC_000022.10:g.43901431A>G, NM_001362786.2:c.916A>G, NM_001362786.1:c.916A>G, NM_001044370.2:c.916A>G, NM_001044370.1:c.916A>G, NM_001585.2:c.916A>G, NM_001585.1:c.844A>G, NP_001349715.1:p.Thr306Ala, NP_001037835.1:p.Thr306Ala

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