SNP Links for Protein (Select 1069415339) - SNP

Links from Protein

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Select item 14896931471.

rs1489693147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181260141 (GRCh38)
5:180687142 (GRCh37)
Canonical SPDI:: NC_000005.10:181260140:C:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260141C>T, NC_000005.9:g.180687142C>T, NM_032765.4:c.673G>A, NM_032765.3:c.673G>A, NM_032765.2:c.673G>A, XM_017009991.3:c.673G>A, XM_017009991.2:c.673G>A, XM_017009991.1:c.673G>A, NM_001346050.2:c.673G>A, NM_001346050.1:c.673G>A, NM_001346051.2:c.673G>A, NM_001346051.1:c.673G>A, NM_001346048.2:c.673G>A, NM_001346048.1:c.673G>A, NM_001346049.2:c.673G>A, NM_001346049.1:c.673G>A, NP_116154.1:p.Gly225Ser, XP_016865480.1:p.Gly225Ser, NP_001332979.1:p.Gly225Ser, NP_001332980.1:p.Gly225Ser, NP_001332977.1:p.Gly225Ser, NP_001332978.1:p.Gly225Ser

Select item 14890339162.

rs1489033916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181260782 (GRCh38)
5:180687783 (GRCh37)
Canonical SPDI:: NC_000005.10:181260781:A:G
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260782A>G, NC_000005.9:g.180687783A>G, NM_032765.4:c.32T>C, NM_032765.3:c.32T>C, NM_032765.2:c.32T>C, XM_017009991.3:c.32T>C, XM_017009991.2:c.32T>C, XM_017009991.1:c.32T>C, NM_001346050.2:c.32T>C, NM_001346050.1:c.32T>C, NM_001346051.2:c.32T>C, NM_001346051.1:c.32T>C, NM_001346048.2:c.32T>C, NM_001346048.1:c.32T>C, NM_001346049.2:c.32T>C, NM_001346049.1:c.32T>C, NP_116154.1:p.Met11Thr, XP_016865480.1:p.Met11Thr, NP_001332979.1:p.Met11Thr, NP_001332980.1:p.Met11Thr, NP_001332977.1:p.Met11Thr, NP_001332978.1:p.Met11Thr

Select item 14884515093.

rs1488451509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:181260124 (GRCh38)
5:180687125 (GRCh37)
Canonical SPDI:: NC_000005.10:181260123:G:C
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.181260124G>C, NC_000005.9:g.180687125G>C, NM_032765.4:c.690C>G, NM_032765.3:c.690C>G, NM_032765.2:c.690C>G, XM_017009991.3:c.690C>G, XM_017009991.2:c.690C>G, XM_017009991.1:c.690C>G, NM_001346050.2:c.690C>G, NM_001346050.1:c.690C>G, NM_001346051.2:c.690C>G, NM_001346051.1:c.690C>G, NM_001346048.2:c.690C>G, NM_001346048.1:c.690C>G, NM_001346049.2:c.690C>G, NM_001346049.1:c.690C>G, NP_116154.1:p.His230Gln, XP_016865480.1:p.His230Gln, NP_001332979.1:p.His230Gln, NP_001332980.1:p.His230Gln, NP_001332977.1:p.His230Gln, NP_001332978.1:p.His230Gln

Select item 14874397924.

rs1487439792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181256855 (GRCh38)
5:180683856 (GRCh37)
Canonical SPDI:: NC_000005.10:181256854:A:G
Gene:: TRIM52 (Varview), CTC-338M12.4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.181256855A>G, NC_000005.9:g.180683856A>G, NM_032765.4:c.*559T>C, NM_032765.3:c.*559T>C, NM_032765.2:c.*559T>C, NM_001346050.2:c.*353T>C, NM_001346050.1:c.*353T>C, NM_001346051.2:c.*194T>C, NM_001346051.1:c.*194T>C, NM_001346048.2:c.818T>C, NM_001346048.1:c.818T>C, NM_022907.1:c.*638A>G, NP_001332977.1:p.Ile273Thr

Select item 14833167985.

rs1483316798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:181260002 (GRCh38)
5:180687003 (GRCh37)
Canonical SPDI:: NC_000005.10:181260001:T:C
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_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)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.181260002T>C, NC_000005.9:g.180687003T>C, NM_032765.4:c.812A>G, NM_032765.3:c.812A>G, NM_032765.2:c.812A>G, XM_017009991.3:c.812A>G, XM_017009991.2:c.812A>G, XM_017009991.1:c.812A>G, NM_001346050.2:c.812A>G, NM_001346050.1:c.812A>G, NM_001346051.2:c.812A>G, NM_001346051.1:c.812A>G, NM_001346048.2:c.812A>G, NM_001346048.1:c.812A>G, NM_001346049.2:c.812A>G, NM_001346049.1:c.812A>G, NP_116154.1:p.Gln271Arg, XP_016865480.1:p.Gln271Arg, NP_001332979.1:p.Gln271Arg, NP_001332980.1:p.Gln271Arg, NP_001332977.1:p.Gln271Arg, NP_001332978.1:p.Gln271Arg

Select item 14832880336.

rs1483288033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181260692 (GRCh38)
5:180687693 (GRCh37)
Canonical SPDI:: NC_000005.10:181260691:C:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260692C>T, NC_000005.9:g.180687693C>T, NM_032765.4:c.122G>A, NM_032765.3:c.122G>A, NM_032765.2:c.122G>A, XM_017009991.3:c.122G>A, XM_017009991.2:c.122G>A, XM_017009991.1:c.122G>A, NM_001346050.2:c.122G>A, NM_001346050.1:c.122G>A, NM_001346051.2:c.122G>A, NM_001346051.1:c.122G>A, NM_001346048.2:c.122G>A, NM_001346048.1:c.122G>A, NM_001346049.2:c.122G>A, NM_001346049.1:c.122G>A, NP_116154.1:p.Arg41Gln, XP_016865480.1:p.Arg41Gln, NP_001332979.1:p.Arg41Gln, NP_001332980.1:p.Arg41Gln, NP_001332977.1:p.Arg41Gln, NP_001332978.1:p.Arg41Gln

Select item 14803368797.

rs1480336879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:181260405 (GRCh38)
5:180687406 (GRCh37)
Canonical SPDI:: NC_000005.10:181260404:C:A,NC_000005.10:181260404:C:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260405C>A, NC_000005.10:g.181260405C>T, NC_000005.9:g.180687406C>A, NC_000005.9:g.180687406C>T, NM_032765.4:c.409G>T, NM_032765.4:c.409G>A, NM_032765.3:c.409G>T, NM_032765.3:c.409G>A, NM_032765.2:c.409G>T, NM_032765.2:c.409G>A, XM_017009991.3:c.409G>T, XM_017009991.3:c.409G>A, XM_017009991.2:c.409G>T, XM_017009991.2:c.409G>A, XM_017009991.1:c.409G>T, XM_017009991.1:c.409G>A, NM_001346050.2:c.409G>T, NM_001346050.2:c.409G>A, NM_001346050.1:c.409G>T, NM_001346050.1:c.409G>A, NM_001346051.2:c.409G>T, NM_001346051.2:c.409G>A, NM_001346051.1:c.409G>T, NM_001346051.1:c.409G>A, NM_001346048.2:c.409G>T, NM_001346048.2:c.409G>A, NM_001346048.1:c.409G>T, NM_001346048.1:c.409G>A, NM_001346049.2:c.409G>T, NM_001346049.2:c.409G>A, NM_001346049.1:c.409G>T, NM_001346049.1:c.409G>A, NP_116154.1:p.Gly137Ter, NP_116154.1:p.Gly137Arg, XP_016865480.1:p.Gly137Ter, XP_016865480.1:p.Gly137Arg, NP_001332979.1:p.Gly137Ter, NP_001332979.1:p.Gly137Arg, NP_001332980.1:p.Gly137Ter, NP_001332980.1:p.Gly137Arg, NP_001332977.1:p.Gly137Ter, NP_001332977.1:p.Gly137Arg, NP_001332978.1:p.Gly137Ter, NP_001332978.1:p.Gly137Arg

Select item 14786998878.

rs1478699887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:181260715 (GRCh38)
5:180687716 (GRCh37)
Canonical SPDI:: NC_000005.10:181260714:G:C
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260715G>C, NC_000005.9:g.180687716G>C, NM_032765.4:c.99C>G, NM_032765.3:c.99C>G, NM_032765.2:c.99C>G, XM_017009991.3:c.99C>G, XM_017009991.2:c.99C>G, XM_017009991.1:c.99C>G, NM_001346050.2:c.99C>G, NM_001346050.1:c.99C>G, NM_001346051.2:c.99C>G, NM_001346051.1:c.99C>G, NM_001346048.2:c.99C>G, NM_001346048.1:c.99C>G, NM_001346049.2:c.99C>G, NM_001346049.1:c.99C>G, NP_116154.1:p.Ile33Met, XP_016865480.1:p.Ile33Met, NP_001332979.1:p.Ile33Met, NP_001332980.1:p.Ile33Met, NP_001332977.1:p.Ile33Met, NP_001332978.1:p.Ile33Met

Select item 14771109899.

rs1477110989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:181260792 (GRCh38)
5:180687793 (GRCh37)
Canonical SPDI:: NC_000005.10:181260791:G:C
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.181260792G>C, NC_000005.9:g.180687793G>C, NM_032765.4:c.22C>G, NM_032765.3:c.22C>G, NM_032765.2:c.22C>G, XM_017009991.3:c.22C>G, XM_017009991.2:c.22C>G, XM_017009991.1:c.22C>G, NM_001346050.2:c.22C>G, NM_001346050.1:c.22C>G, NM_001346051.2:c.22C>G, NM_001346051.1:c.22C>G, NM_001346048.2:c.22C>G, NM_001346048.1:c.22C>G, NM_001346049.2:c.22C>G, NM_001346049.1:c.22C>G, NP_116154.1:p.Pro8Ala, XP_016865480.1:p.Pro8Ala, NP_001332979.1:p.Pro8Ala, NP_001332980.1:p.Pro8Ala, NP_001332977.1:p.Pro8Ala, NP_001332978.1:p.Pro8Ala

Select item 146664216310.

rs1466642163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181260806 (GRCh38)
5:180687807 (GRCh37)
Canonical SPDI:: NC_000005.10:181260805:C:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_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_000005.10:g.181260806C>T, NC_000005.9:g.180687807C>T, NM_032765.4:c.8G>A, NM_032765.3:c.8G>A, NM_032765.2:c.8G>A, XM_017009991.3:c.8G>A, XM_017009991.2:c.8G>A, XM_017009991.1:c.8G>A, NM_001346050.2:c.8G>A, NM_001346050.1:c.8G>A, NM_001346051.2:c.8G>A, NM_001346051.1:c.8G>A, NM_001346048.2:c.8G>A, NM_001346048.1:c.8G>A, NM_001346049.2:c.8G>A, NM_001346049.1:c.8G>A, NP_116154.1:p.Gly3Asp, XP_016865480.1:p.Gly3Asp, NP_001332979.1:p.Gly3Asp, NP_001332980.1:p.Gly3Asp, NP_001332977.1:p.Gly3Asp, NP_001332978.1:p.Gly3Asp

Select item 146462915011.

rs1464629150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181260639 (GRCh38)
5:180687640 (GRCh37)
Canonical SPDI:: NC_000005.10:181260638:C:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_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_000005.10:g.181260639C>T, NC_000005.9:g.180687640C>T, NM_032765.4:c.175G>A, NM_032765.3:c.175G>A, NM_032765.2:c.175G>A, XM_017009991.3:c.175G>A, XM_017009991.2:c.175G>A, XM_017009991.1:c.175G>A, NM_001346050.2:c.175G>A, NM_001346050.1:c.175G>A, NM_001346051.2:c.175G>A, NM_001346051.1:c.175G>A, NM_001346048.2:c.175G>A, NM_001346048.1:c.175G>A, NM_001346049.2:c.175G>A, NM_001346049.1:c.175G>A, NP_116154.1:p.Glu59Lys, XP_016865480.1:p.Glu59Lys, NP_001332979.1:p.Glu59Lys, NP_001332980.1:p.Glu59Lys, NP_001332977.1:p.Glu59Lys, NP_001332978.1:p.Glu59Lys

Select item 146252854912.

rs1462528549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:181260402 (GRCh38)
5:180687403 (GRCh37)
Canonical SPDI:: NC_000005.10:181260401:C:G
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.181260402C>G, NC_000005.9:g.180687403C>G, NM_032765.4:c.412G>C, NM_032765.3:c.412G>C, NM_032765.2:c.412G>C, XM_017009991.3:c.412G>C, XM_017009991.2:c.412G>C, XM_017009991.1:c.412G>C, NM_001346050.2:c.412G>C, NM_001346050.1:c.412G>C, NM_001346051.2:c.412G>C, NM_001346051.1:c.412G>C, NM_001346048.2:c.412G>C, NM_001346048.1:c.412G>C, NM_001346049.2:c.412G>C, NM_001346049.1:c.412G>C, NP_116154.1:p.Gly138Arg, XP_016865480.1:p.Gly138Arg, NP_001332979.1:p.Gly138Arg, NP_001332980.1:p.Gly138Arg, NP_001332977.1:p.Gly138Arg, NP_001332978.1:p.Gly138Arg

Select item 145944036213.

rs1459440362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:181260549 (GRCh38)
5:180687550 (GRCh37)
Canonical SPDI:: NC_000005.10:181260548:C:G
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260549C>G, NC_000005.9:g.180687550C>G, NM_032765.4:c.265G>C, NM_032765.3:c.265G>C, NM_032765.2:c.265G>C, XM_017009991.3:c.265G>C, XM_017009991.2:c.265G>C, XM_017009991.1:c.265G>C, NM_001346050.2:c.265G>C, NM_001346050.1:c.265G>C, NM_001346051.2:c.265G>C, NM_001346051.1:c.265G>C, NM_001346048.2:c.265G>C, NM_001346048.1:c.265G>C, NM_001346049.2:c.265G>C, NM_001346049.1:c.265G>C, NP_116154.1:p.Gly89Arg, XP_016865480.1:p.Gly89Arg, NP_001332979.1:p.Gly89Arg, NP_001332980.1:p.Gly89Arg, NP_001332977.1:p.Gly89Arg, NP_001332978.1:p.Gly89Arg

Select item 145824518514.

rs1458245185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181260566 (GRCh38)
5:180687567 (GRCh37)
Canonical SPDI:: NC_000005.10:181260565:C:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260566C>T, NC_000005.9:g.180687567C>T, NM_032765.4:c.248G>A, NM_032765.3:c.248G>A, NM_032765.2:c.248G>A, XM_017009991.3:c.248G>A, XM_017009991.2:c.248G>A, XM_017009991.1:c.248G>A, NM_001346050.2:c.248G>A, NM_001346050.1:c.248G>A, NM_001346051.2:c.248G>A, NM_001346051.1:c.248G>A, NM_001346048.2:c.248G>A, NM_001346048.1:c.248G>A, NM_001346049.2:c.248G>A, NM_001346049.1:c.248G>A, NP_116154.1:p.Arg83Gln, XP_016865480.1:p.Arg83Gln, NP_001332979.1:p.Arg83Gln, NP_001332980.1:p.Arg83Gln, NP_001332977.1:p.Arg83Gln, NP_001332978.1:p.Arg83Gln

Select item 145312326815.

rs1453123268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:181260750 (GRCh38)
5:180687751 (GRCh37)
Canonical SPDI:: NC_000005.10:181260749:T:A
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260750T>A, NC_000005.9:g.180687751T>A, NM_032765.4:c.64A>T, NM_032765.3:c.64A>T, NM_032765.2:c.64A>T, XM_017009991.3:c.64A>T, XM_017009991.2:c.64A>T, XM_017009991.1:c.64A>T, NM_001346050.2:c.64A>T, NM_001346050.1:c.64A>T, NM_001346051.2:c.64A>T, NM_001346051.1:c.64A>T, NM_001346048.2:c.64A>T, NM_001346048.1:c.64A>T, NM_001346049.2:c.64A>T, NM_001346049.1:c.64A>T, NP_116154.1:p.Ile22Phe, XP_016865480.1:p.Ile22Phe, NP_001332979.1:p.Ile22Phe, NP_001332980.1:p.Ile22Phe, NP_001332977.1:p.Ile22Phe, NP_001332978.1:p.Ile22Phe

Select item 144138266616.

rs1441382666 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:181260374 (GRCh38)
5:180687376 (GRCh37)
Canonical SPDI:: NC_000005.10:181260374:C:CC
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000005.10:g.181260375dup, NC_000005.9:g.180687376dup, NM_032765.4:c.439dup, NM_032765.3:c.439dup, NM_032765.2:c.439dup, XM_017009991.3:c.439dup, XM_017009991.2:c.439dup, XM_017009991.1:c.439dup, NM_001346050.2:c.439dup, NM_001346050.1:c.439dup, NM_001346051.2:c.439dup, NM_001346051.1:c.439dup, NM_001346048.2:c.439dup, NM_001346048.1:c.439dup, NM_001346049.2:c.439dup, NM_001346049.1:c.439dup, NP_116154.1:p.Val147fs, XP_016865480.1:p.Val147fs, NP_001332979.1:p.Val147fs, NP_001332980.1:p.Val147fs, NP_001332977.1:p.Val147fs, NP_001332978.1:p.Val147fs

Select item 143998523117.

rs1439985231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:181260733 (GRCh38)
5:180687734 (GRCh37)
Canonical SPDI:: NC_000005.10:181260732:G:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_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_000005.10:g.181260733G>T, NC_000005.9:g.180687734G>T, NM_032765.4:c.81C>A, NM_032765.3:c.81C>A, NM_032765.2:c.81C>A, XM_017009991.3:c.81C>A, XM_017009991.2:c.81C>A, XM_017009991.1:c.81C>A, NM_001346050.2:c.81C>A, NM_001346050.1:c.81C>A, NM_001346051.2:c.81C>A, NM_001346051.1:c.81C>A, NM_001346048.2:c.81C>A, NM_001346048.1:c.81C>A, NM_001346049.2:c.81C>A, NM_001346049.1:c.81C>A, NP_116154.1:p.Phe27Leu, XP_016865480.1:p.Phe27Leu, NP_001332979.1:p.Phe27Leu, NP_001332980.1:p.Phe27Leu, NP_001332977.1:p.Phe27Leu, NP_001332978.1:p.Phe27Leu

Select item 143646303118.

rs1436463031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181260674 (GRCh38)
5:180687675 (GRCh37)
Canonical SPDI:: NC_000005.10:181260673:A:G
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000005.10:g.181260674A>G, NC_000005.9:g.180687675A>G, NM_032765.4:c.140T>C, NM_032765.3:c.140T>C, NM_032765.2:c.140T>C, XM_017009991.3:c.140T>C, XM_017009991.2:c.140T>C, XM_017009991.1:c.140T>C, NM_001346050.2:c.140T>C, NM_001346050.1:c.140T>C, NM_001346051.2:c.140T>C, NM_001346051.1:c.140T>C, NM_001346048.2:c.140T>C, NM_001346048.1:c.140T>C, NM_001346049.2:c.140T>C, NM_001346049.1:c.140T>C, NP_116154.1:p.Leu47Pro, XP_016865480.1:p.Leu47Pro, NP_001332979.1:p.Leu47Pro, NP_001332980.1:p.Leu47Pro, NP_001332977.1:p.Leu47Pro, NP_001332978.1:p.Leu47Pro

Select item 143344663019.

rs1433446630 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:181260320 (GRCh38)
5:180687321 (GRCh37)
Canonical SPDI:: NC_000005.10:181260319:A:C
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_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_000005.10:g.181260320A>C, NC_000005.9:g.180687321A>C, NM_032765.4:c.494T>G, NM_032765.3:c.494T>G, NM_032765.2:c.494T>G, XM_017009991.3:c.494T>G, XM_017009991.2:c.494T>G, XM_017009991.1:c.494T>G, NM_001346050.2:c.494T>G, NM_001346050.1:c.494T>G, NM_001346051.2:c.494T>G, NM_001346051.1:c.494T>G, NM_001346048.2:c.494T>G, NM_001346048.1:c.494T>G, NM_001346049.2:c.494T>G, NM_001346049.1:c.494T>G, NP_116154.1:p.Leu165Arg, XP_016865480.1:p.Leu165Arg, NP_001332979.1:p.Leu165Arg, NP_001332980.1:p.Leu165Arg, NP_001332977.1:p.Leu165Arg, NP_001332978.1:p.Leu165Arg

Select item 142842431220.

rs1428424312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181260010 (GRCh38)
5:180687011 (GRCh37)
Canonical SPDI:: NC_000005.10:181260009:C:T
Gene:: TRIM52 (Varview), TRIM52-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181260010C>T, NC_000005.9:g.180687011C>T, NM_032765.4:c.804G>A, NM_032765.3:c.804G>A, NM_032765.2:c.804G>A, XM_017009991.3:c.804G>A, XM_017009991.2:c.804G>A, XM_017009991.1:c.804G>A, NM_001346050.2:c.804G>A, NM_001346050.1:c.804G>A, NM_001346051.2:c.804G>A, NM_001346051.1:c.804G>A, NM_001346048.2:c.804G>A, NM_001346048.1:c.804G>A, NM_001346049.2:c.804G>A, NM_001346049.1:c.804G>A

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