SNP Links for Protein (Select 27436889) - SNP

Links from Protein

Items: 1 to 20 of 397

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Select item 14860416531.

rs1486041653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32215385 (GRCh38)
20:30803188 (GRCh37)
Canonical SPDI:: NC_000020.11:32215384:G:A
Gene:: POFUT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32215385G>A, NC_000020.10:g.30803188G>A, NG_033906.1:g.12493G>A, NM_015352.2:c.363G>A, NM_015352.1:c.363G>A, NM_172236.2:c.363G>A, NM_172236.1:c.363G>A, XM_047440079.1:c.39G>A, XR_007067447.1:n.425G>A

Select item 14854019822.

rs1485401982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32228383 (GRCh38)
20:30816186 (GRCh37)
Canonical SPDI:: NC_000020.11:32228382:G:A
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000354/6 (TOMMO)
HGVS:: NC_000020.11:g.32228383G>A, NC_000020.10:g.30816186G>A, NG_033906.1:g.25491G>A, NM_015352.2:c.663G>A, NM_015352.1:c.663G>A, XM_047440079.1:c.339G>A, XR_007067560.1:n.865C>T

Select item 14845101193.

rs1484510119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32210079 (GRCh38)
20:30797882 (GRCh37)
Canonical SPDI:: NC_000020.11:32210078:G:A
Gene:: POFUT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32210079G>A, NC_000020.10:g.30797882G>A, NG_033906.1:g.7187G>A, NM_015352.2:c.133G>A, NM_015352.1:c.133G>A, NM_172236.2:c.133G>A, NM_172236.1:c.133G>A, XR_007067447.1:n.195G>A, NP_056167.1:p.Gly45Arg, NP_758436.1:p.Gly45Arg

Select item 14837834764.

rs1483783476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:32215339 (GRCh38)
20:30803142 (GRCh37)
Canonical SPDI:: NC_000020.11:32215338:A:C
Gene:: POFUT1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32215339A>C, NC_000020.10:g.30803142A>C, NG_033906.1:g.12447A>C, NM_015352.2:c.317A>C, NM_015352.1:c.317A>C, NM_172236.2:c.317A>C, NM_172236.1:c.317A>C, XM_047440079.1:c.-8A>C, XR_007067447.1:n.379A>C, NP_056167.1:p.Glu106Ala, NP_758436.1:p.Glu106Ala

Select item 14831859285.

rs1483185928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:32216680 (GRCh38)
20:30804483 (GRCh37)
Canonical SPDI:: NC_000020.11:32216679:C:G
Gene:: POFUT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000020.11:g.32216680C>G, NC_000020.10:g.30804483C>G, NG_033906.1:g.13788C>G, NM_015352.2:c.501C>G, NM_015352.1:c.501C>G, NM_172236.2:c.501C>G, NM_172236.1:c.501C>G, XM_047440079.1:c.177C>G, XR_007067447.1:n.563C>G

Select item 14798809146.

rs1479880914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:32216662 (GRCh38)
20:30804465 (GRCh37)
Canonical SPDI:: NC_000020.11:32216661:G:C
Gene:: POFUT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.32216662G>C, NC_000020.10:g.30804465G>C, NG_033906.1:g.13770G>C, NM_015352.2:c.483G>C, NM_015352.1:c.483G>C, NM_172236.2:c.483G>C, NM_172236.1:c.483G>C, XM_047440079.1:c.159G>C, XR_007067447.1:n.545G>C, NP_056167.1:p.Lys161Asn, NP_758436.1:p.Lys161Asn, XP_047296035.1:p.Lys53Asn

Select item 14796879867.

rs1479687986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:32228295 (GRCh38)
20:30816098 (GRCh37)
Canonical SPDI:: NC_000020.11:32228294:T:G
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.32228295T>G, NC_000020.10:g.30816098T>G, NG_033906.1:g.25403T>G, NM_015352.2:c.575T>G, NM_015352.1:c.575T>G, XM_047440079.1:c.251T>G, XR_007067560.1:n.953A>C, XR_007067447.1:n.838T>G, NP_056167.1:p.Leu192Arg, XP_047296035.1:p.Leu84Arg

Select item 14779175028.

rs1477917502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:32230872 (GRCh38)
20:30818675 (GRCh37)
Canonical SPDI:: NC_000020.11:32230871:C:G
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32230872C>G, NC_000020.10:g.30818675C>G, NG_033906.1:g.27980C>G, NM_015352.2:c.789C>G, NM_015352.1:c.789C>G, XM_047440079.1:c.465C>G, XR_007067560.1:n.170G>C

Select item 14774658909.

rs1477465890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:32231022 (GRCh38)
20:30818825 (GRCh37)
Canonical SPDI:: NC_000020.11:32231021:G:C
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.32231022G>C, NC_000020.10:g.30818825G>C, NG_033906.1:g.28130G>C, NM_015352.2:c.939G>C, NM_015352.1:c.939G>C, XM_047440079.1:c.615G>C, XR_007067560.1:n.20C>G, NP_056167.1:p.Glu313Asp, XP_047296035.1:p.Glu205Asp

Select item 147688565510.

rs1476885655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:32216718 (GRCh38)
20:30804521 (GRCh37)
Canonical SPDI:: NC_000020.11:32216717:A:G
Gene:: POFUT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.32216718A>G, NC_000020.10:g.30804521A>G, NG_033906.1:g.13826A>G, NM_015352.2:c.539A>G, NM_015352.1:c.539A>G, NM_172236.2:c.539A>G, NM_172236.1:c.539A>G, XM_047440079.1:c.215A>G, XR_007067447.1:n.601A>G, NP_056167.1:p.Gln180Arg, NP_758436.1:p.Gln180Arg, XP_047296035.1:p.Gln72Arg

Select item 147490777711.

rs1474907777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:32234473 (GRCh38)
20:30822276 (GRCh37)
Canonical SPDI:: NC_000020.11:32234472:G:T
Gene:: POFUT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.32234473G>T, NC_000020.10:g.30822276G>T, NG_033906.1:g.31581G>T, NM_015352.2:c.979G>T, NM_015352.1:c.979G>T, XM_047440079.1:c.655G>T, NP_056167.1:p.Val327Leu, XP_047296035.1:p.Val219Leu

Select item 147490647612.

rs1474906476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:32215291 (GRCh38)
20:30803094 (GRCh37)
Canonical SPDI:: NC_000020.11:32215290:A:G
Gene:: POFUT1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.32215291A>G, NC_000020.10:g.30803094A>G, NG_033906.1:g.12399A>G, NM_015352.2:c.269A>G, NM_015352.1:c.269A>G, NM_172236.2:c.269A>G, NM_172236.1:c.269A>G, XM_047440079.1:c.-56A>G, XR_007067447.1:n.331A>G, NP_056167.1:p.Tyr90Cys, NP_758436.1:p.Tyr90Cys

Select item 147376574013.

rs1473765740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32230856 (GRCh38)
20:30818659 (GRCh37)
Canonical SPDI:: NC_000020.11:32230855:G:A
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.32230856G>A, NC_000020.10:g.30818659G>A, NG_033906.1:g.27964G>A, NM_015352.2:c.773G>A, NM_015352.1:c.773G>A, XM_047440079.1:c.449G>A, XR_007067560.1:n.186C>T, NP_056167.1:p.Gly258Asp, XP_047296035.1:p.Gly150Asp

Select item 147331208914.

rs1473312089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:32228391 (GRCh38)
20:30816194 (GRCh37)
Canonical SPDI:: NC_000020.11:32228390:C:A,NC_000020.11:32228390:C:G
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32228391C>A, NC_000020.11:g.32228391C>G, NC_000020.10:g.30816194C>A, NC_000020.10:g.30816194C>G, NG_033906.1:g.25499C>A, NG_033906.1:g.25499C>G, NM_015352.2:c.671C>A, NM_015352.2:c.671C>G, NM_015352.1:c.671C>A, NM_015352.1:c.671C>G, XM_047440079.1:c.347C>A, XM_047440079.1:c.347C>G, XR_007067560.1:n.857G>T, XR_007067560.1:n.857G>C, NP_056167.1:p.Ala224Asp, NP_056167.1:p.Ala224Gly, XP_047296035.1:p.Ala116Asp, XP_047296035.1:p.Ala116Gly

Select item 147185657315.

rs1471856573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32234502 (GRCh38)
20:30822305 (GRCh37)
Canonical SPDI:: NC_000020.11:32234501:G:A
Gene:: POFUT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.32234502G>A, NC_000020.10:g.30822305G>A, NG_033906.1:g.31610G>A, NM_015352.2:c.1008G>A, NM_015352.1:c.1008G>A, XM_047440079.1:c.684G>A

Select item 147089615316.

rs1470896153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32216650 (GRCh38)
20:30804453 (GRCh37)
Canonical SPDI:: NC_000020.11:32216649:G:A
Gene:: POFUT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32216650G>A, NC_000020.10:g.30804453G>A, NG_033906.1:g.13758G>A, NM_015352.2:c.471G>A, NM_015352.1:c.471G>A, NM_172236.2:c.471G>A, NM_172236.1:c.471G>A, XM_047440079.1:c.147G>A, XR_007067447.1:n.533G>A

Select item 146160873117.

rs1461608731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:32230914 (GRCh38)
20:30818717 (GRCh37)
Canonical SPDI:: NC_000020.11:32230913:C:G,NC_000020.11:32230913:C:T
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.32230914C>G, NC_000020.11:g.32230914C>T, NC_000020.10:g.30818717C>G, NC_000020.10:g.30818717C>T, NG_033906.1:g.28022C>G, NG_033906.1:g.28022C>T, NM_015352.2:c.831C>G, NM_015352.2:c.831C>T, NM_015352.1:c.831C>G, NM_015352.1:c.831C>T, XM_047440079.1:c.507C>G, XM_047440079.1:c.507C>T, XR_007067560.1:n.128G>C, XR_007067560.1:n.128G>A

Select item 145755911018.

rs1457559110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32208028 (GRCh38)
20:30795831 (GRCh37)
Canonical SPDI:: NC_000020.11:32208027:G:A
Gene:: PLAGL2 (Varview), POFUT1 (Varview)
Functional Consequence:: stop_gained,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32208028G>A, NC_000020.10:g.30795831G>A, NG_033906.1:g.5136G>A, NM_015352.2:c.87G>A, NM_015352.1:c.87G>A, NM_172236.2:c.87G>A, NM_172236.1:c.87G>A, XM_047440079.1:c.-116G>A, XR_007067447.1:n.149G>A, NP_056167.1:p.Trp29Ter, NP_758436.1:p.Trp29Ter

Select item 145069173219.

rs1450691732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:32230923 (GRCh38)
20:30818726 (GRCh37)
Canonical SPDI:: NC_000020.11:32230922:G:C
Gene:: POFUT1 (Varview), LOC124904884 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32230923G>C, NC_000020.10:g.30818726G>C, NG_033906.1:g.28031G>C, NM_015352.2:c.840G>C, NM_015352.1:c.840G>C, XM_047440079.1:c.516G>C, XR_007067560.1:n.119C>G, NP_056167.1:p.Met280Ile, XP_047296035.1:p.Met172Ile

Select item 145045911620.

rs1450459116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:32207963 (GRCh38)
20:30795766 (GRCh37)
Canonical SPDI:: NC_000020.11:32207962:C:A,NC_000020.11:32207962:C:T
Gene:: PLAGL2 (Varview), POFUT1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32207963C>A, NC_000020.11:g.32207963C>T, NC_000020.10:g.30795766C>A, NC_000020.10:g.30795766C>T, NG_033906.1:g.5071C>A, NG_033906.1:g.5071C>T, NM_015352.2:c.22C>A, NM_015352.2:c.22C>T, NM_015352.1:c.22C>A, NM_015352.1:c.22C>T, NM_172236.2:c.22C>A, NM_172236.2:c.22C>T, NM_172236.1:c.22C>A, NM_172236.1:c.22C>T, XM_047440079.1:c.-181C>A, XM_047440079.1:c.-181C>T, XR_007067447.1:n.84C>A, XR_007067447.1:n.84C>T, NP_056167.1:p.Arg8Trp, NP_758436.1:p.Arg8Trp

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