SNP Links for Protein (Select 21362050) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:130342029 (GRCh38)
2:131099602 (GRCh37)
Canonical SPDI:: NC_000002.12:130342028:C:G
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130342029C>G, NC_000002.11:g.131099602C>G, NG_046779.1:g.5782G>C, NM_032357.4:c.97G>C, NM_032357.3:c.97G>C, NM_032357.2:c.97G>C, NR_135548.2:n.136G>C, NR_135548.1:n.355G>C, NP_115733.2:p.Ala33Pro

Select item 14653087787.

rs1465308778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130339166 (GRCh38)
2:131096739 (GRCh37)
Canonical SPDI:: NC_000002.12:130339165:C:T
Gene:: CCDC115 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.130339166C>T, NC_000002.11:g.131096739C>T, NG_046779.1:g.8645G>A, NM_032357.4:c.497G>A, NM_032357.3:c.497G>A, NM_032357.2:c.497G>A, NR_135548.2:n.739G>A, NR_135548.1:n.958G>A, NM_001321119.2:c.473G>A, NM_001321119.1:c.353G>A, NR_104471.1:n.1137G>A, NM_001321118.1:c.482G>A, NP_115733.2:p.Arg166Gln, NP_001308048.2:p.Arg158Gln, NP_001308047.1:p.Arg161Gln

Select item 14633021808.

rs1463302180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:130341733 (GRCh38)
2:131099306 (GRCh37)
Canonical SPDI:: NC_000002.12:130341732:G:C
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130341733G>C, NC_000002.11:g.131099306G>C, NG_046779.1:g.6078C>G, NM_032357.4:c.232C>G, NM_032357.3:c.232C>G, NM_032357.2:c.232C>G, NR_135548.2:n.271C>G, NR_135548.1:n.490C>G, NM_001321119.2:c.208C>G, NM_001321119.1:c.88C>G, NR_104471.1:n.669C>G, NM_001321118.1:c.217C>G, NP_115733.2:p.Leu78Val, NP_001308048.2:p.Leu70Val, NP_001308047.1:p.Leu73Val

Select item 14622769969.

rs1462276996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130339161 (GRCh38)
2:131096734 (GRCh37)
Canonical SPDI:: NC_000002.12:130339160:G:A
Gene:: CCDC115 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.130339161G>A, NC_000002.11:g.131096734G>A, NG_046779.1:g.8650C>T, NM_032357.4:c.502C>T, NM_032357.3:c.502C>T, NM_032357.2:c.502C>T, NR_135548.2:n.744C>T, NR_135548.1:n.963C>T, NM_001321119.2:c.478C>T, NM_001321119.1:c.358C>T, NR_104471.1:n.1142C>T, NM_001321118.1:c.487C>T, NP_115733.2:p.Leu168Phe, NP_001308048.2:p.Leu160Phe, NP_001308047.1:p.Leu163Phe

Select item 145892287310.

rs1458922873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130341720 (GRCh38)
2:131099293 (GRCh37)
Canonical SPDI:: NC_000002.12:130341719:T:C
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.130341720T>C, NC_000002.11:g.131099293T>C, NG_046779.1:g.6091A>G, NM_032357.4:c.245A>G, NM_032357.3:c.245A>G, NM_032357.2:c.245A>G, NR_135548.2:n.284A>G, NR_135548.1:n.503A>G, NM_001321119.2:c.221A>G, NM_001321119.1:c.101A>G, NR_104471.1:n.682A>G, NM_001321118.1:c.230A>G, NP_115733.2:p.Lys82Arg, NP_001308048.2:p.Lys74Arg, NP_001308047.1:p.Lys77Arg

Select item 145149390811.

rs1451493908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130340910 (GRCh38)
2:131098483 (GRCh37)
Canonical SPDI:: NC_000002.12:130340909:T:C
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_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_000002.12:g.130340910T>C, NC_000002.11:g.131098483T>C, NG_046779.1:g.6901A>G, NM_032357.4:c.428A>G, NM_032357.3:c.428A>G, NM_032357.2:c.428A>G, NR_135548.2:n.467A>G, NR_135548.1:n.686A>G, NM_001321119.2:c.404A>G, NM_001321119.1:c.284A>G, NR_104471.1:n.865A>G, NM_001321118.1:c.413A>G, NP_115733.2:p.Asp143Gly, NP_001308048.2:p.Asp135Gly, NP_001308047.1:p.Asp138Gly

Select item 145022821412.

rs1450228214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130339180 (GRCh38)
2:131096753 (GRCh37)
Canonical SPDI:: NC_000002.12:130339179:A:G
Gene:: CCDC115 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.130339180A>G, NC_000002.11:g.131096753A>G, NG_046779.1:g.8631T>C, NM_032357.4:c.483T>C, NM_032357.3:c.483T>C, NM_032357.2:c.483T>C, NR_135548.2:n.725T>C, NR_135548.1:n.944T>C, NM_001321119.2:c.459T>C, NM_001321119.1:c.339T>C, NR_104471.1:n.1123T>C, NM_001321118.1:c.468T>C

Select item 144772774713.

rs1447727747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130341008 (GRCh38)
2:131098581 (GRCh37)
Canonical SPDI:: NC_000002.12:130341007:G:A
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130341008G>A, NC_000002.11:g.131098581G>A, NG_046779.1:g.6803C>T, NM_032357.4:c.330C>T, NM_032357.3:c.330C>T, NM_032357.2:c.330C>T, NR_135548.2:n.369C>T, NR_135548.1:n.588C>T, NM_001321119.2:c.306C>T, NM_001321119.1:c.186C>T, NR_104471.1:n.767C>T, NM_001321118.1:c.315C>T

Select item 144168474514.

rs1441684745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:130341939 (GRCh38)
2:131099512 (GRCh37)
Canonical SPDI:: NC_000002.12:130341938:C:A
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130341939C>A, NC_000002.11:g.131099512C>A, NG_046779.1:g.5872G>T, NM_032357.4:c.117G>T, NM_032357.3:c.117G>T, NM_032357.2:c.117G>T, NR_135548.2:n.156G>T, NR_135548.1:n.375G>T, NM_001321119.2:c.93G>T, NM_001321119.1:c.-28G>T, NR_104471.1:n.554G>T, NM_001321118.1:c.102G>T, NP_115733.2:p.Trp39Cys, NP_001308048.2:p.Trp31Cys, NP_001308047.1:p.Trp34Cys

Select item 143859673515.

rs1438596735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:130341709 (GRCh38)
2:131099282 (GRCh37)
Canonical SPDI:: NC_000002.12:130341708:C:A
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.130341709C>A, NC_000002.11:g.131099282C>A, NG_046779.1:g.6102G>T, NM_032357.4:c.256G>T, NM_032357.3:c.256G>T, NM_032357.2:c.256G>T, NR_135548.2:n.295G>T, NR_135548.1:n.514G>T, NM_001321119.2:c.232G>T, NM_001321119.1:c.112G>T, NR_104471.1:n.693G>T, NM_001321118.1:c.241G>T, NP_115733.2:p.Ala86Ser, NP_001308048.2:p.Ala78Ser, NP_001308047.1:p.Ala81Ser

Select item 143284722816.

rs1432847228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130340928 (GRCh38)
2:131098501 (GRCh37)
Canonical SPDI:: NC_000002.12:130340927:G:A
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.130340928G>A, NC_000002.11:g.131098501G>A, NG_046779.1:g.6883C>T, NM_032357.4:c.410C>T, NM_032357.3:c.410C>T, NM_032357.2:c.410C>T, NR_135548.2:n.449C>T, NR_135548.1:n.668C>T, NM_001321119.2:c.386C>T, NM_001321119.1:c.266C>T, NR_104471.1:n.847C>T, NM_001321118.1:c.395C>T, NP_115733.2:p.Ala137Val, NP_001308048.2:p.Ala129Val, NP_001308047.1:p.Ala132Val

Select item 143018511617.

rs1430185116 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:130339157 (GRCh38)
2:131096731 (GRCh37)
Canonical SPDI:: NC_000002.12:130339157:GG:GGG
Gene:: CCDC115 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130339159dup, NC_000002.11:g.131096732dup, NG_046779.1:g.8653dup, NM_032357.4:c.505dup, NM_032357.3:c.505dup, NM_032357.2:c.505dup, NR_135548.2:n.747dup, NR_135548.1:n.966dup, NM_001321119.2:c.481dup, NM_001321119.1:c.361dup, NR_104471.1:n.1145dup, NM_001321118.1:c.490dup, NP_115733.2:p.Gln169fs, NP_001308048.2:p.Gln161fs, NP_001308047.1:p.Gln164fs

Select item 142719947418.

rs1427199474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:130342103 (GRCh38)
2:131099676 (GRCh37)
Canonical SPDI:: NC_000002.12:130342102:G:C
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_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.130342103G>C, NC_000002.11:g.131099676G>C, NG_046779.1:g.5708C>G, NM_032357.4:c.23C>G, NM_032357.3:c.23C>G, NM_032357.2:c.23C>G, NR_135548.2:n.62C>G, NR_135548.1:n.281C>G, NM_001321119.2:c.23C>G, NM_001321119.1:c.-98C>G, NP_115733.2:p.Ala8Gly, NP_001308048.2:p.Ala8Gly

Select item 142691355019.

rs1426913550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:130341011 (GRCh38)
2:131098584 (GRCh37)
Canonical SPDI:: NC_000002.12:130341010:C:A,NC_000002.12:130341010:C:T
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.130341011C>A, NC_000002.12:g.130341011C>T, NC_000002.11:g.131098584C>A, NC_000002.11:g.131098584C>T, NG_046779.1:g.6800G>T, NG_046779.1:g.6800G>A, NM_032357.4:c.327G>T, NM_032357.4:c.327G>A, NM_032357.3:c.327G>T, NM_032357.3:c.327G>A, NM_032357.2:c.327G>T, NM_032357.2:c.327G>A, NR_135548.2:n.366G>T, NR_135548.2:n.366G>A, NR_135548.1:n.585G>T, NR_135548.1:n.585G>A, NM_001321119.2:c.303G>T, NM_001321119.2:c.303G>A, NM_001321119.1:c.183G>T, NM_001321119.1:c.183G>A, NR_104471.1:n.764G>T, NR_104471.1:n.764G>A, NM_001321118.1:c.312G>T, NM_001321118.1:c.312G>A, NP_115733.2:p.Lys109Asn, NP_001308048.2:p.Lys101Asn, NP_001308047.1:p.Lys104Asn

Select item 142656947320.

rs1426569473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:130339201 (GRCh38)
2:131096774 (GRCh37)
Canonical SPDI:: NC_000002.12:130339200:G:T
Gene:: CCDC115 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130339201G>T, NC_000002.11:g.131096774G>T, NG_046779.1:g.8610C>A, NM_032357.4:c.462C>A, NM_032357.3:c.462C>A, NM_032357.2:c.462C>A, NR_135548.2:n.704C>A, NR_135548.1:n.923C>A, NM_001321119.2:c.438C>A, NM_001321119.1:c.318C>A, NR_104471.1:n.1102C>A, NM_001321118.1:c.447C>A

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