SNP Links for Protein (Select 14150100) - SNP

Links from Protein

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Select item 14885305691.

rs1488530569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232956402 (GRCh38)
1:233092148 (GRCh37)
Canonical SPDI:: NC_000001.11:232956401:C:T
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.232956402C>T, NC_000001.10:g.233092148C>T, NM_032324.3:c.253C>T, NM_032324.2:c.253C>T, NM_032324.1:c.253C>T, NR_138027.2:n.510C>T, NR_138027.1:n.510C>T, NR_138024.2:n.190C>T, NR_138024.1:n.270C>T, NR_138026.2:n.190C>T, NR_138026.1:n.270C>T, NM_001329452.2:c.253C>T, NM_001329452.1:c.253C>T, NM_001329453.2:c.253C>T, NM_001329453.1:c.253C>T, NR_138028.2:n.190C>T, NR_138028.1:n.270C>T

Select item 14875985862.

rs1487598586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232956429 (GRCh38)
1:233092175 (GRCh37)
Canonical SPDI:: NC_000001.11:232956428:C:T
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_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_000001.11:g.232956429C>T, NC_000001.10:g.233092175C>T, NM_032324.3:c.280C>T, NM_032324.2:c.280C>T, NM_032324.1:c.280C>T, NR_138027.2:n.537C>T, NR_138027.1:n.537C>T, NR_138024.2:n.217C>T, NR_138024.1:n.297C>T, NR_138026.2:n.217C>T, NR_138026.1:n.297C>T, NM_001329452.2:c.280C>T, NM_001329452.1:c.280C>T, NM_001329453.2:c.280C>T, NM_001329453.1:c.280C>T, NR_138028.2:n.217C>T, NR_138028.1:n.297C>T, NP_115700.1:p.Pro94Ser, NP_001316381.1:p.Pro94Ser, NP_001316382.1:p.Pro94Ser

Select item 14746753693.

rs1474675369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:232978187 (GRCh38)
1:233113933 (GRCh37)
Canonical SPDI:: NC_000001.11:232978186:C:G,NC_000001.11:232978186:C:T
Gene:: NTPCR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232978187C>G, NC_000001.11:g.232978187C>T, NC_000001.10:g.233113933C>G, NC_000001.10:g.233113933C>T, NG_082372.1:g.534C>G, NG_082372.1:g.534C>T, NM_032324.3:c.529C>G, NM_032324.3:c.529C>T, NM_032324.2:c.529C>G, NM_032324.2:c.529C>T, NM_032324.1:c.529C>G, NM_032324.1:c.529C>T, NR_138027.2:n.786C>G, NR_138027.2:n.786C>T, NR_138027.1:n.786C>G, NR_138027.1:n.786C>T, NR_138024.2:n.470C>G, NR_138024.2:n.470C>T, NR_138024.1:n.550C>G, NR_138024.1:n.550C>T, NR_138026.2:n.466C>G, NR_138026.2:n.466C>T, NR_138026.1:n.546C>G, NR_138026.1:n.546C>T, NM_001329452.2:c.323C>G, NM_001329452.2:c.323C>T, NM_001329452.1:c.323C>G, NM_001329452.1:c.323C>T, NM_001329453.2:c.319C>G, NM_001329453.2:c.319C>T, NM_001329453.1:c.319C>G, NM_001329453.1:c.319C>T, NR_138025.2:n.369C>G, NR_138025.2:n.369C>T, NR_138025.1:n.449C>G, NR_138025.1:n.449C>T, NR_138028.2:n.256C>G, NR_138028.2:n.256C>T, NR_138028.1:n.336C>G, NR_138028.1:n.336C>T, NP_115700.1:p.Leu177Val, NP_115700.1:p.Leu177Phe, NP_001316381.1:p.Pro108Arg, NP_001316381.1:p.Pro108Leu, NP_001316382.1:p.Leu107Val, NP_001316382.1:p.Leu107Phe

Select item 14660171494.

rs1466017149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:232969929 (GRCh38)
1:233105675 (GRCh37)
Canonical SPDI:: NC_000001.11:232969928:A:G
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_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_000001.11:g.232969929A>G, NC_000001.10:g.233105675A>G, NM_032324.3:c.315A>G, NM_032324.2:c.315A>G, NM_032324.1:c.315A>G, NR_138027.2:n.572A>G, NR_138027.1:n.572A>G, NR_138024.2:n.256A>G, NR_138024.1:n.336A>G, NR_138026.2:n.252A>G, NR_138026.1:n.332A>G, NR_138025.2:n.155A>G, NR_138025.1:n.235A>G

Select item 14614271625.

rs1461427162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:232955681 (GRCh38)
1:233091427 (GRCh37)
Canonical SPDI:: NC_000001.11:232955680:C:T
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232955681C>T, NC_000001.10:g.233091427C>T, NM_032324.3:c.159C>T, NM_032324.2:c.159C>T, NM_032324.1:c.159C>T, NR_138027.2:n.416C>T, NR_138027.1:n.416C>T, NM_001329452.2:c.159C>T, NM_001329452.1:c.159C>T, NM_001329453.2:c.159C>T, NM_001329453.1:c.159C>T

Select item 14585625486.

rs1458562548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:232969909 (GRCh38)
1:233105655 (GRCh37)
Canonical SPDI:: NC_000001.11:232969908:G:T
Gene:: NTPCR (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232969909G>T, NC_000001.10:g.233105655G>T, NM_032324.3:c.295G>T, NM_032324.2:c.295G>T, NM_032324.1:c.295G>T, NR_138027.2:n.552G>T, NR_138027.1:n.552G>T, NR_138024.2:n.236G>T, NR_138024.1:n.316G>T, NR_138026.2:n.232G>T, NR_138026.1:n.312G>T, NR_138025.2:n.135G>T, NR_138025.1:n.215G>T, NP_115700.1:p.Ala99Ser

Select item 14557837077.

rs1455783707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:232978200 (GRCh38)
1:233113946 (GRCh37)
Canonical SPDI:: NC_000001.11:232978199:T:A,NC_000001.11:232978199:T:C
Gene:: NTPCR (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232978200T>A, NC_000001.11:g.232978200T>C, NC_000001.10:g.233113946T>A, NC_000001.10:g.233113946T>C, NG_082372.1:g.547T>A, NG_082372.1:g.547T>C, NM_032324.3:c.542T>A, NM_032324.3:c.542T>C, NM_032324.2:c.542T>A, NM_032324.2:c.542T>C, NM_032324.1:c.542T>A, NM_032324.1:c.542T>C, NR_138027.2:n.799T>A, NR_138027.2:n.799T>C, NR_138027.1:n.799T>A, NR_138027.1:n.799T>C, NR_138024.2:n.483T>A, NR_138024.2:n.483T>C, NR_138024.1:n.563T>A, NR_138024.1:n.563T>C, NR_138026.2:n.479T>A, NR_138026.2:n.479T>C, NR_138026.1:n.559T>A, NR_138026.1:n.559T>C, NM_001329452.2:c.336T>A, NM_001329452.2:c.336T>C, NM_001329452.1:c.336T>A, NM_001329452.1:c.336T>C, NM_001329453.2:c.332T>A, NM_001329453.2:c.332T>C, NM_001329453.1:c.332T>A, NM_001329453.1:c.332T>C, NR_138025.2:n.382T>A, NR_138025.2:n.382T>C, NR_138025.1:n.462T>A, NR_138025.1:n.462T>C, NR_138028.2:n.269T>A, NR_138028.2:n.269T>C, NR_138028.1:n.349T>A, NR_138028.1:n.349T>C, NP_115700.1:p.Ile181Asn, NP_115700.1:p.Ile181Thr, NP_001316381.1:p.Tyr112Ter, NP_001316382.1:p.Ile111Asn, NP_001316382.1:p.Ile111Thr

Select item 14455667598.

rs1445566759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:232978195 (GRCh38)
1:233113941 (GRCh37)
Canonical SPDI:: NC_000001.11:232978194:A:C,NC_000001.11:232978194:A:G
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.232978195A>C, NC_000001.11:g.232978195A>G, NC_000001.10:g.233113941A>C, NC_000001.10:g.233113941A>G, NG_082372.1:g.542A>C, NG_082372.1:g.542A>G, NM_032324.3:c.537A>C, NM_032324.3:c.537A>G, NM_032324.2:c.537A>C, NM_032324.2:c.537A>G, NM_032324.1:c.537A>C, NM_032324.1:c.537A>G, NR_138027.2:n.794A>C, NR_138027.2:n.794A>G, NR_138027.1:n.794A>C, NR_138027.1:n.794A>G, NR_138024.2:n.478A>C, NR_138024.2:n.478A>G, NR_138024.1:n.558A>C, NR_138024.1:n.558A>G, NR_138026.2:n.474A>C, NR_138026.2:n.474A>G, NR_138026.1:n.554A>C, NR_138026.1:n.554A>G, NM_001329452.2:c.331A>C, NM_001329452.2:c.331A>G, NM_001329452.1:c.331A>C, NM_001329452.1:c.331A>G, NM_001329453.2:c.327A>C, NM_001329453.2:c.327A>G, NM_001329453.1:c.327A>C, NM_001329453.1:c.327A>G, NR_138025.2:n.377A>C, NR_138025.2:n.377A>G, NR_138025.1:n.457A>C, NR_138025.1:n.457A>G, NR_138028.2:n.264A>C, NR_138028.2:n.264A>G, NR_138028.1:n.344A>C, NR_138028.1:n.344A>G, NP_001316381.1:p.Arg111Gly

Select item 14446872519.

rs1444687251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:232955685 (GRCh38)
1:233091431 (GRCh37)
Canonical SPDI:: NC_000001.11:232955684:T:C
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232955685T>C, NC_000001.10:g.233091431T>C, NM_032324.3:c.163T>C, NM_032324.2:c.163T>C, NM_032324.1:c.163T>C, NR_138027.2:n.420T>C, NR_138027.1:n.420T>C, NM_001329452.2:c.163T>C, NM_001329452.1:c.163T>C, NM_001329453.2:c.163T>C, NM_001329453.1:c.163T>C

Select item 144288838310.

rs1442888383 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 1:232955662 (GRCh38)
1:233091408 (GRCh37)
Canonical SPDI:: NC_000001.11:232955657:AGAAGAA:AGAA
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.232955659GAA[1], NC_000001.10:g.233091405GAA[1], NM_032324.3:c.137GAA[1], NM_032324.2:c.137GAA[1], NM_032324.1:c.137GAA[1], NR_138027.2:n.394GAA[1], NR_138027.1:n.394GAA[1], NM_001329452.2:c.137GAA[1], NM_001329452.1:c.137GAA[1], NM_001329453.2:c.137GAA[1], NM_001329453.1:c.137GAA[1], NP_115700.1:p.Arg47del, NP_001316381.1:p.Arg47del, NP_001316382.1:p.Arg47del

Select item 144096579811.

rs1440965798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:232955647 (GRCh38)
1:233091393 (GRCh37)
Canonical SPDI:: NC_000001.11:232955646:G:A
Gene:: NTPCR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232955647G>A, NC_000001.10:g.233091393G>A, NM_032324.3:c.125G>A, NM_032324.2:c.125G>A, NM_032324.1:c.125G>A, NR_138027.2:n.382G>A, NR_138027.1:n.382G>A, NM_001329452.2:c.125G>A, NM_001329452.1:c.125G>A, NM_001329453.2:c.125G>A, NM_001329453.1:c.125G>A, NP_115700.1:p.Arg42Lys, NP_001316381.1:p.Arg42Lys, NP_001316382.1:p.Arg42Lys

Select item 143790312212.

rs1437903122 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGACTATAATCC>- [Show Flanks]
Chromosome:: 1:232970022 (GRCh38)
1:233105768 (GRCh37)
Canonical SPDI:: NC_000001.11:232970019:CCAGGGACTATAATCC:CC
Gene:: NTPCR (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.232970022_232970035del, NC_000001.10:g.233105768_233105781del, NM_032324.3:c.408_421del, NM_032324.2:c.408_421del, NM_032324.1:c.408_421del, NR_138027.2:n.665_678del, NR_138027.1:n.665_678del, NR_138024.2:n.349_362del, NR_138024.1:n.429_442del, NR_138026.2:n.345_358del, NR_138026.1:n.425_438del, NR_138025.2:n.248_261del, NR_138025.1:n.328_341del, NP_115700.1:p.Gly137fs

Select item 142860393013.

rs1428603930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:232956359 (GRCh38)
1:233092105 (GRCh37)
Canonical SPDI:: NC_000001.11:232956358:A:T
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232956359A>T, NC_000001.10:g.233092105A>T, NM_032324.3:c.210A>T, NM_032324.2:c.210A>T, NM_032324.1:c.210A>T, NR_138027.2:n.467A>T, NR_138027.1:n.467A>T, NR_138024.2:n.147A>T, NR_138024.1:n.227A>T, NR_138026.2:n.147A>T, NR_138026.1:n.227A>T, NM_001329452.2:c.210A>T, NM_001329452.1:c.210A>T, NM_001329453.2:c.210A>T, NM_001329453.1:c.210A>T, NR_138028.2:n.147A>T, NR_138028.1:n.227A>T

Select item 142778667214.

rs1427786672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:232970055 (GRCh38)
1:233105801 (GRCh37)
Canonical SPDI:: NC_000001.11:232970054:T:C
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.232970055T>C, NC_000001.10:g.233105801T>C, NM_032324.3:c.441T>C, NM_032324.2:c.441T>C, NM_032324.1:c.441T>C, NR_138027.2:n.698T>C, NR_138027.1:n.698T>C, NR_138024.2:n.382T>C, NR_138024.1:n.462T>C, NR_138026.2:n.378T>C, NR_138026.1:n.458T>C, NR_138025.2:n.281T>C, NR_138025.1:n.361T>C

Select item 142594619015.

rs1425946190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:232978199 (GRCh38)
1:233113945 (GRCh37)
Canonical SPDI:: NC_000001.11:232978198:A:G
Gene:: NTPCR (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
HGVS:: NC_000001.11:g.232978199A>G, NC_000001.10:g.233113945A>G, NG_082372.1:g.546A>G, NM_032324.3:c.541A>G, NM_032324.2:c.541A>G, NM_032324.1:c.541A>G, NR_138027.2:n.798A>G, NR_138027.1:n.798A>G, NR_138024.2:n.482A>G, NR_138024.1:n.562A>G, NR_138026.2:n.478A>G, NR_138026.1:n.558A>G, NM_001329452.2:c.335A>G, NM_001329452.1:c.335A>G, NM_001329453.2:c.331A>G, NM_001329453.1:c.331A>G, NR_138025.2:n.381A>G, NR_138025.1:n.461A>G, NR_138028.2:n.268A>G, NR_138028.1:n.348A>G, NP_115700.1:p.Ile181Val, NP_001316381.1:p.Tyr112Cys, NP_001316382.1:p.Ile111Val

Select item 142192759316.

rs1421927593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:232970084 (GRCh38)
1:233105830 (GRCh37)
Canonical SPDI:: NC_000001.11:232970083:A:C
Gene:: NTPCR (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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)
HGVS:: NC_000001.11:g.232970084A>C, NC_000001.10:g.233105830A>C, NM_032324.3:c.470A>C, NM_032324.2:c.470A>C, NM_032324.1:c.470A>C, NR_138027.2:n.727A>C, NR_138027.1:n.727A>C, NR_138024.2:n.411A>C, NR_138024.1:n.491A>C, NR_138026.2:n.407A>C, NR_138026.1:n.487A>C, NR_138025.2:n.310A>C, NR_138025.1:n.390A>C, NP_115700.1:p.Glu157Ala

Select item 139876388617.

rs1398763886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:232956404 (GRCh38)
1:233092150 (GRCh37)
Canonical SPDI:: NC_000001.11:232956403:G:A
Gene:: NTPCR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232956404G>A, NC_000001.10:g.233092150G>A, NM_032324.3:c.255G>A, NM_032324.2:c.255G>A, NM_032324.1:c.255G>A, NR_138027.2:n.512G>A, NR_138027.1:n.512G>A, NR_138024.2:n.192G>A, NR_138024.1:n.272G>A, NR_138026.2:n.192G>A, NR_138026.1:n.272G>A, NM_001329452.2:c.255G>A, NM_001329452.1:c.255G>A, NM_001329453.2:c.255G>A, NM_001329453.1:c.255G>A, NR_138028.2:n.192G>A, NR_138028.1:n.272G>A

Select item 139455065918.

rs1394550659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:232956398 (GRCh38)
1:233092144 (GRCh37)
Canonical SPDI:: NC_000001.11:232956397:C:A,NC_000001.11:232956397:C:T
Gene:: NTPCR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.232956398C>A, NC_000001.11:g.232956398C>T, NC_000001.10:g.233092144C>A, NC_000001.10:g.233092144C>T, NM_032324.3:c.249C>A, NM_032324.3:c.249C>T, NM_032324.2:c.249C>A, NM_032324.2:c.249C>T, NM_032324.1:c.249C>A, NM_032324.1:c.249C>T, NR_138027.2:n.506C>A, NR_138027.2:n.506C>T, NR_138027.1:n.506C>A, NR_138027.1:n.506C>T, NR_138024.2:n.186C>A, NR_138024.2:n.186C>T, NR_138024.1:n.266C>A, NR_138024.1:n.266C>T, NR_138026.2:n.186C>A, NR_138026.2:n.186C>T, NR_138026.1:n.266C>A, NR_138026.1:n.266C>T, NM_001329452.2:c.249C>A, NM_001329452.2:c.249C>T, NM_001329452.1:c.249C>A, NM_001329452.1:c.249C>T, NM_001329453.2:c.249C>A, NM_001329453.2:c.249C>T, NM_001329453.1:c.249C>A, NM_001329453.1:c.249C>T, NR_138028.2:n.186C>A, NR_138028.2:n.186C>T, NR_138028.1:n.266C>A, NR_138028.1:n.266C>T

Select item 139394708619.

rs1393947086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:232950723 (GRCh38)
1:233086469 (GRCh37)
Canonical SPDI:: NC_000001.11:232950722:G:A,NC_000001.11:232950722:G:C
Gene:: NTPCR (Varview), LOC107985361 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.232950723G>A, NC_000001.11:g.232950723G>C, NC_000001.10:g.233086469G>A, NC_000001.10:g.233086469G>C, NM_032324.3:c.13G>A, NM_032324.3:c.13G>C, NM_032324.2:c.13G>A, NM_032324.2:c.13G>C, NM_032324.1:c.13G>A, NM_032324.1:c.13G>C, NR_138024.2:n.113G>A, NR_138024.2:n.113G>C, NR_138024.1:n.193G>A, NR_138024.1:n.193G>C, NR_138026.2:n.113G>A, NR_138026.2:n.113G>C, NR_138026.1:n.193G>A, NR_138026.1:n.193G>C, NM_001329452.2:c.13G>A, NM_001329452.2:c.13G>C, NM_001329452.1:c.13G>A, NM_001329452.1:c.13G>C, NM_001329453.2:c.13G>A, NM_001329453.2:c.13G>C, NM_001329453.1:c.13G>A, NM_001329453.1:c.13G>C, NR_138025.2:n.113G>A, NR_138025.2:n.113G>C, NR_138025.1:n.193G>A, NR_138025.1:n.193G>C, NR_138028.2:n.113G>A, NR_138028.2:n.113G>C, NR_138028.1:n.193G>A, NR_138028.1:n.193G>C, XR_001738525.2:n.656C>T, XR_001738525.2:n.656C>G, XR_001738525.1:n.548C>T, XR_001738525.1:n.548C>G, NP_115700.1:p.Val5Met, NP_115700.1:p.Val5Leu, NP_001316381.1:p.Val5Met, NP_001316381.1:p.Val5Leu, NP_001316382.1:p.Val5Met, NP_001316382.1:p.Val5Leu

Select item 139367466420.

rs1393674664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:232969932 (GRCh38)
1:233105678 (GRCh37)
Canonical SPDI:: NC_000001.11:232969931:G:A
Gene:: NTPCR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.232969932G>A, NC_000001.10:g.233105678G>A, NM_032324.3:c.318G>A, NM_032324.2:c.318G>A, NM_032324.1:c.318G>A, NR_138027.2:n.575G>A, NR_138027.1:n.575G>A, NR_138024.2:n.259G>A, NR_138024.1:n.339G>A, NR_138026.2:n.255G>A, NR_138026.1:n.335G>A, NR_138025.2:n.158G>A, NR_138025.1:n.238G>A

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