SNP Links for Protein (Select 217416372) - SNP

Links from Protein

Items: 1 to 20 of 811

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Select item 14884611321.

rs1488461132 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGG>- [Show Flanks]
Chromosome:: 2:74474707 (GRCh38)
2:74701834 (GRCh37)
Canonical SPDI:: NC_000002.12:74474704:GGCTGG:GG
Gene:: CCDC142 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.74474707_74474710del, NC_000002.11:g.74701834_74701837del, NM_032779.4:c.2070_2073del, NM_032779.3:c.2070_2073del, NM_001365575.2:c.2091_2094del, NM_001365575.1:c.2091_2094del, NP_116168.3:p.Ala691fs, NP_001352504.1:p.Ala698fs

Select item 14869844372.

rs1486984437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74474744 (GRCh38)
2:74701871 (GRCh37)
Canonical SPDI:: NC_000002.12:74474743:C:G
Gene:: CCDC142 (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_000002.12:g.74474744C>G, NC_000002.11:g.74701871C>G, NM_032779.4:c.2034G>C, NM_032779.3:c.2034G>C, NM_001365575.2:c.2055G>C, NM_001365575.1:c.2055G>C, NP_116168.3:p.Glu678Asp, NP_001352504.1:p.Glu685Asp

Select item 14865113553.

rs1486511355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:74482473 (GRCh38)
2:74709601 (GRCh37)
Canonical SPDI:: NC_000002.12:74482473:T:TT
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.74482474dup, NC_000002.11:g.74709601dup, NM_032779.4:c.364dup, NM_032779.3:c.364dup, NM_001365575.2:c.364dup, NM_001365575.1:c.364dup, NP_116168.3:p.Met122fs, NP_001352504.1:p.Met122fs

Select item 14863794134.

rs1486379413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74481493 (GRCh38)
2:74708620 (GRCh37)
Canonical SPDI:: NC_000002.12:74481492:T:A
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74481493T>A, NC_000002.11:g.74708620T>A, NM_032779.4:c.1067A>T, NM_032779.3:c.1067A>T, NM_001365575.2:c.1067A>T, NM_001365575.1:c.1067A>T, NP_116168.3:p.His356Leu, NP_001352504.1:p.His356Leu

Select item 14855335945.

rs1485533594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74482080 (GRCh38)
2:74709207 (GRCh37)
Canonical SPDI:: NC_000002.12:74482079:T:C
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_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_000002.12:g.74482080T>C, NC_000002.11:g.74709207T>C, NM_032779.4:c.758A>G, NM_032779.3:c.758A>G, NM_001365575.2:c.758A>G, NM_001365575.1:c.758A>G, NP_116168.3:p.Glu253Gly, NP_001352504.1:p.Glu253Gly

Select item 14846508626.

rs1484650862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:74482547 (GRCh38)
2:74709674 (GRCh37)
Canonical SPDI:: NC_000002.12:74482546:C:A,NC_000002.12:74482546:C:T
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.74482547C>A, NC_000002.12:g.74482547C>T, NC_000002.11:g.74709674C>A, NC_000002.11:g.74709674C>T, NM_032779.4:c.291G>T, NM_032779.4:c.291G>A, NM_032779.3:c.291G>T, NM_032779.3:c.291G>A, NM_001365575.2:c.291G>T, NM_001365575.2:c.291G>A, NM_001365575.1:c.291G>T, NM_001365575.1:c.291G>A

Select item 14831425107.

rs1483142510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74480970 (GRCh38)
2:74708097 (GRCh37)
Canonical SPDI:: NC_000002.12:74480969:G:A
Gene:: CCDC142 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000002.12:g.74480970G>A, NC_000002.11:g.74708097G>A, NM_032779.4:c.1354C>T, NM_032779.3:c.1354C>T, NM_001365575.2:c.1375C>T, NM_001365575.1:c.1375C>T, NP_116168.3:p.Gln452Ter, NP_001352504.1:p.Gln459Ter

Select item 14813371998.

rs1481337199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74482084 (GRCh38)
2:74709211 (GRCh37)
Canonical SPDI:: NC_000002.12:74482083:C:G
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_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_000002.12:g.74482084C>G, NC_000002.11:g.74709211C>G, NM_032779.4:c.754G>C, NM_032779.3:c.754G>C, NM_001365575.2:c.754G>C, NM_001365575.1:c.754G>C, NP_116168.3:p.Asp252His, NP_001352504.1:p.Asp252His

Select item 14791168409.

rs1479116840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74482553 (GRCh38)
2:74709680 (GRCh37)
Canonical SPDI:: NC_000002.12:74482552:C:T
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.74482553C>T, NC_000002.11:g.74709680C>T, NM_032779.4:c.285G>A, NM_032779.3:c.285G>A, NM_001365575.2:c.285G>A, NM_001365575.1:c.285G>A

Select item 147580283910.

rs1475802839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:74482244 (GRCh38)
2:74709371 (GRCh37)
Canonical SPDI:: NC_000002.12:74482243:C:G,NC_000002.12:74482243:C:T
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.74482244C>G, NC_000002.12:g.74482244C>T, NC_000002.11:g.74709371C>G, NC_000002.11:g.74709371C>T, NM_032779.4:c.594G>C, NM_032779.4:c.594G>A, NM_032779.3:c.594G>C, NM_032779.3:c.594G>A, NM_001365575.2:c.594G>C, NM_001365575.2:c.594G>A, NM_001365575.1:c.594G>C, NM_001365575.1:c.594G>A

Select item 147507402611.

rs1475074026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:74482809 (GRCh38)
2:74709936 (GRCh37)
Canonical SPDI:: NC_000002.12:74482808:A:C
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74482809A>C, NC_000002.11:g.74709936A>C, NM_032779.4:c.29T>G, NM_032779.3:c.29T>G, NM_001365575.2:c.29T>G, NM_001365575.1:c.29T>G, NP_116168.3:p.Leu10Arg, NP_001352504.1:p.Leu10Arg

Select item 147399667712.

rs1473996677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74474783 (GRCh38)
2:74701910 (GRCh37)
Canonical SPDI:: NC_000002.12:74474782:C:T
Gene:: CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74474783C>T, NC_000002.11:g.74701910C>T, NM_032779.4:c.1995G>A, NM_032779.3:c.1995G>A, NM_001365575.2:c.2016G>A, NM_001365575.1:c.2016G>A

Select item 147392620613.

rs1473926206 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:74475060 (GRCh38)
2:74702187 (GRCh37)
Canonical SPDI:: NC_000002.12:74475059:CC:C
Gene:: CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74475061del, NC_000002.11:g.74702188del, NM_032779.4:c.1831del, NM_032779.3:c.1831del, NM_001365575.2:c.1852del, NM_001365575.1:c.1852del, NP_116168.3:p.Glu611fs, NP_001352504.1:p.Glu618fs

Select item 147383111314.

rs1473831113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74482756 (GRCh38)
2:74709883 (GRCh37)
Canonical SPDI:: NC_000002.12:74482755:C:T
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.74482756C>T, NC_000002.11:g.74709883C>T, NM_032779.4:c.82G>A, NM_032779.3:c.82G>A, NM_001365575.2:c.82G>A, NM_001365575.1:c.82G>A, NP_116168.3:p.Glu28Lys, NP_001352504.1:p.Glu28Lys

Select item 147203095915.

rs1472030959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74475364 (GRCh38)
2:74702491 (GRCh37)
Canonical SPDI:: NC_000002.12:74475363:C:T
Gene:: CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74475364C>T, NC_000002.11:g.74702491C>T, NM_032779.4:c.1636G>A, NM_032779.3:c.1636G>A, NM_001365575.2:c.1657G>A, NM_001365575.1:c.1657G>A, NP_116168.3:p.Val546Ile, NP_001352504.1:p.Val553Ile

Select item 147180614816.

rs1471806148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74482558 (GRCh38)
2:74709685 (GRCh37)
Canonical SPDI:: NC_000002.12:74482557:C:G
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74482558C>G, NC_000002.11:g.74709685C>G, NM_032779.4:c.280G>C, NM_032779.3:c.280G>C, NM_001365575.2:c.280G>C, NM_001365575.1:c.280G>C, NP_116168.3:p.Val94Leu, NP_001352504.1:p.Val94Leu

Select item 147052188517.

rs1470521885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74482564 (GRCh38)
2:74709691 (GRCh37)
Canonical SPDI:: NC_000002.12:74482563:G:A
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.74482564G>A, NC_000002.11:g.74709691G>A, NM_032779.4:c.274C>T, NM_032779.3:c.274C>T, NM_001365575.2:c.274C>T, NM_001365575.1:c.274C>T, NP_116168.3:p.Arg92Trp, NP_001352504.1:p.Arg92Trp

Select item 146931649618.

rs1469316496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74474724 (GRCh38)
2:74701851 (GRCh37)
Canonical SPDI:: NC_000002.12:74474723:T:C
Gene:: CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.74474724T>C, NC_000002.11:g.74701851T>C, NM_032779.4:c.2054A>G, NM_032779.3:c.2054A>G, NM_001365575.2:c.2075A>G, NM_001365575.1:c.2075A>G, NP_116168.3:p.Gln685Arg, NP_001352504.1:p.Gln692Arg

Select item 146911988919.

rs1469119889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74482689 (GRCh38)
2:74709816 (GRCh37)
Canonical SPDI:: NC_000002.12:74482688:G:A
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74482689G>A, NC_000002.11:g.74709816G>A, NM_032779.4:c.149C>T, NM_032779.3:c.149C>T, NM_001365575.2:c.149C>T, NM_001365575.1:c.149C>T, NP_116168.3:p.Thr50Ile, NP_001352504.1:p.Thr50Ile

Select item 146804783320.

rs1468047833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74482816 (GRCh38)
2:74709943 (GRCh37)
Canonical SPDI:: NC_000002.12:74482815:C:T
Gene:: TTC31 (Varview), CCDC142 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000002.12:g.74482816C>T, NC_000002.11:g.74709943C>T, NM_032779.4:c.22G>A, NM_032779.3:c.22G>A, NM_001365575.2:c.22G>A, NM_001365575.1:c.22G>A, NP_116168.3:p.Gly8Ser, NP_001352504.1:p.Gly8Ser

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