SNP Links for Protein (Select 815930035) - SNP

Links from Protein

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Select item 14904340221.

rs1490434022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:125972113 (GRCh38)
3:125690956 (GRCh37)
Canonical SPDI:: NC_000003.12:125972112:A:G
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125972113A>G, NC_000003.11:g.125690956A>G, XM_006713513.4:c.59A>G, XM_006713513.3:c.59A>G, XM_006713513.2:c.59A>G, XM_006713513.1:c.59A>G, NM_001012337.3:c.59A>G, NM_001012337.2:c.59A>G, NM_001012337.1:c.59A>G, NM_001308313.2:c.59A>G, NM_001308313.1:c.59A>G, XP_006713576.1:p.Glu20Gly, NP_001012337.1:p.Glu20Gly, NP_001295242.1:p.Glu20Gly

Select item 14724327742.

rs1472432774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125982389 (GRCh38)
3:125701232 (GRCh37)
Canonical SPDI:: NC_000003.12:125982388:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125982389T>C, NC_000003.11:g.125701232T>C, XM_006713513.4:c.516T>C, XM_006713513.3:c.516T>C, XM_006713513.2:c.516T>C, XM_006713513.1:c.516T>C, XM_005247138.4:c.240T>C, XM_005247138.3:c.240T>C, XM_005247138.2:c.240T>C, XM_005247138.1:c.240T>C, NM_001012337.3:c.516T>C, NM_001012337.2:c.516T>C, NM_001012337.1:c.516T>C, NM_001308313.2:c.516T>C, NM_001308313.1:c.516T>C

Select item 14703316703.

rs1470331670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:125977054 (GRCh38)
3:125695897 (GRCh37)
Canonical SPDI:: NC_000003.12:125977053:A:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125977054A>C, NC_000003.11:g.125695897A>C, XM_006713513.4:c.285A>C, XM_006713513.3:c.285A>C, XM_006713513.2:c.285A>C, XM_006713513.1:c.285A>C, XM_005247138.4:c.9A>C, XM_005247138.3:c.9A>C, XM_005247138.2:c.9A>C, XM_005247138.1:c.9A>C, NM_001012337.3:c.285A>C, NM_001012337.2:c.285A>C, NM_001012337.1:c.285A>C, NM_001308313.2:c.285A>C, NM_001308313.1:c.285A>C, XP_006713576.1:p.Lys95Asn, XP_005247195.1:p.Lys3Asn, NP_001012337.1:p.Lys95Asn, NP_001295242.1:p.Lys95Asn

Select item 14648097504.

rs1464809750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:125982422 (GRCh38)
3:125701265 (GRCh37)
Canonical SPDI:: NC_000003.12:125982421:G:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.125982422G>T, NC_000003.11:g.125701265G>T, XM_006713513.4:c.549G>T, XM_006713513.3:c.549G>T, XM_006713513.2:c.549G>T, XM_006713513.1:c.549G>T, XM_005247138.4:c.273G>T, XM_005247138.3:c.273G>T, XM_005247138.2:c.273G>T, XM_005247138.1:c.273G>T, NM_001012337.3:c.549G>T, NM_001012337.2:c.549G>T, NM_001012337.1:c.549G>T, NM_001308313.2:c.549G>T, NM_001308313.1:c.549G>T, XP_006713576.1:p.Met183Ile, XP_005247195.1:p.Met91Ile, NP_001012337.1:p.Met183Ile, NP_001295242.1:p.Met183Ile

Select item 14622637035.

rs1462263703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:125977004 (GRCh38)
3:125695847 (GRCh37)
Canonical SPDI:: NC_000003.12:125977003:G:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000022/2 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
T=0.000637/11 (TOMMO)
T=0.000684/2 (KOREAN)
HGVS:: NC_000003.12:g.125977004G>T, NC_000003.11:g.125695847G>T, XM_006713513.4:c.235G>T, XM_006713513.3:c.235G>T, XM_006713513.2:c.235G>T, XM_006713513.1:c.235G>T, XM_005247138.4:c.-42G>T, XM_005247138.3:c.-42G>T, XM_005247138.2:c.-42G>T, XM_005247138.1:c.-42G>T, NM_001012337.3:c.235G>T, NM_001012337.2:c.235G>T, NM_001012337.1:c.235G>T, NM_001308313.2:c.235G>T, NM_001308313.1:c.235G>T, XP_006713576.1:p.Val79Phe, NP_001012337.1:p.Val79Phe, NP_001295242.1:p.Val79Phe

Select item 14543075516.

rs1454307551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125975601 (GRCh38)
3:125694444 (GRCh37)
Canonical SPDI:: NC_000003.12:125975600:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (ExAC)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125975601T>C, NC_000003.11:g.125694444T>C, XM_006713513.4:c.155T>C, XM_006713513.3:c.155T>C, XM_006713513.2:c.155T>C, XM_006713513.1:c.155T>C, XM_005247138.4:c.-122T>C, XM_005247138.3:c.-122T>C, XM_005247138.2:c.-122T>C, XM_005247138.1:c.-122T>C, NM_001012337.3:c.155T>C, NM_001012337.2:c.155T>C, NM_001012337.1:c.155T>C, NM_001308313.2:c.155T>C, NM_001308313.1:c.155T>C, XP_006713576.1:p.Val52Ala, NP_001012337.1:p.Val52Ala, NP_001295242.1:p.Val52Ala

Select item 14524246967.

rs1452424696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:125975575 (GRCh38)
3:125694418 (GRCh37)
Canonical SPDI:: NC_000003.12:125975574:C:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.125975575C>T, NC_000003.11:g.125694418C>T, XM_006713513.4:c.129C>T, XM_006713513.3:c.129C>T, XM_006713513.2:c.129C>T, XM_006713513.1:c.129C>T, XM_005247138.4:c.-148C>T, XM_005247138.3:c.-148C>T, XM_005247138.2:c.-148C>T, XM_005247138.1:c.-148C>T, NM_001012337.3:c.129C>T, NM_001012337.2:c.129C>T, NM_001012337.1:c.129C>T, NM_001308313.2:c.129C>T, NM_001308313.1:c.129C>T

Select item 14479798278.

rs1447979827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125983269 (GRCh38)
3:125702112 (GRCh37)
Canonical SPDI:: NC_000003.12:125983268:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125983269T>C, NC_000003.11:g.125702112T>C, XM_006713513.4:c.588T>C, XM_006713513.3:c.588T>C, XM_006713513.2:c.588T>C, XM_006713513.1:c.588T>C, XM_005247138.4:c.312T>C, XM_005247138.3:c.312T>C, XM_005247138.2:c.312T>C, XM_005247138.1:c.312T>C, NM_001012337.3:c.588T>C, NM_001012337.2:c.588T>C, NM_001012337.1:c.588T>C, NM_001308313.2:c.588T>C, NM_001308313.1:c.588T>C

Select item 14437011799.

rs1443701179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:125982302 (GRCh38)
3:125701145 (GRCh37)
Canonical SPDI:: NC_000003.12:125982301:G:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.125982302G>A, NC_000003.11:g.125701145G>A, XM_006713513.4:c.429G>A, XM_006713513.3:c.429G>A, XM_006713513.2:c.429G>A, XM_006713513.1:c.429G>A, XM_005247138.4:c.153G>A, XM_005247138.3:c.153G>A, XM_005247138.2:c.153G>A, XM_005247138.1:c.153G>A, NM_001012337.3:c.429G>A, NM_001012337.2:c.429G>A, NM_001012337.1:c.429G>A, NM_001308313.2:c.429G>A, NM_001308313.1:c.429G>A

Select item 143344013210.

rs1433440132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGA [Show Flanks]
Chromosome:: 3:125977069 (GRCh38)
3:125695913 (GRCh37)
Canonical SPDI:: NC_000003.12:125977069:ACAGA:ACAGACAGA
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGACAGA=0.000084/1 (ALFA)
ACAG=0.000007/1 (GnomAD_exomes)
ACAG=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.125977071_125977074dup, NC_000003.11:g.125695914_125695917dup, XM_006713513.4:c.302_305dup, XM_006713513.3:c.302_305dup, XM_006713513.2:c.302_305dup, XM_006713513.1:c.302_305dup, XM_005247138.4:c.26_29dup, XM_005247138.3:c.26_29dup, XM_005247138.2:c.26_29dup, XM_005247138.1:c.26_29dup, NM_001012337.3:c.302_305dup, NM_001012337.2:c.302_305dup, NM_001012337.1:c.302_305dup, NM_001308313.2:c.302_305dup, NM_001308313.1:c.302_305dup, XP_006713576.1:p.Leu103fs, XP_005247195.1:p.Leu11fs, NP_001012337.1:p.Leu103fs, NP_001295242.1:p.Leu103fs

Select item 143161414411.

rs1431614144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:125977045 (GRCh38)
3:125695888 (GRCh37)
Canonical SPDI:: NC_000003.12:125977044:G:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125977045G>C, NC_000003.11:g.125695888G>C, XM_006713513.4:c.276G>C, XM_006713513.3:c.276G>C, XM_006713513.2:c.276G>C, XM_006713513.1:c.276G>C, XM_005247138.4:c.-1G>C, XM_005247138.3:c.-1G>C, XM_005247138.2:c.-1G>C, XM_005247138.1:c.-1G>C, NM_001012337.3:c.276G>C, NM_001012337.2:c.276G>C, NM_001012337.1:c.276G>C, NM_001308313.2:c.276G>C, NM_001308313.1:c.276G>C, XP_006713576.1:p.Gln92His, NP_001012337.1:p.Gln92His, NP_001295242.1:p.Gln92His

Select item 143121580012.

rs1431215800 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:125972145 (GRCh38)
3:125690988 (GRCh37)
Canonical SPDI:: NC_000003.12:125972144:CA:
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.125972145_125972146del, NC_000003.11:g.125690988_125690989del, XM_006713513.4:c.91_92del, XM_006713513.3:c.91_92del, XM_006713513.2:c.91_92del, XM_006713513.1:c.91_92del, NM_001012337.3:c.91_92del, NM_001012337.2:c.91_92del, NM_001012337.1:c.91_92del, NM_001308313.2:c.91_92del, NM_001308313.1:c.91_92del, XP_006713576.1:p.Gln31fs, NP_001012337.1:p.Gln31fs, NP_001295242.1:p.Gln31fs

Select item 142832786113.

rs1428327861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:125977046 (GRCh38)
3:125695889 (GRCh37)
Canonical SPDI:: NC_000003.12:125977045:A:G
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,initiator_codon_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.125977046A>G, NC_000003.11:g.125695889A>G, XM_006713513.4:c.277A>G, XM_006713513.3:c.277A>G, XM_006713513.2:c.277A>G, XM_006713513.1:c.277A>G, XM_005247138.4:c.1A>G, XM_005247138.3:c.1A>G, XM_005247138.2:c.1A>G, XM_005247138.1:c.1A>G, NM_001012337.3:c.277A>G, NM_001012337.2:c.277A>G, NM_001012337.1:c.277A>G, NM_001308313.2:c.277A>G, NM_001308313.1:c.277A>G, XP_006713576.1:p.Met93Val, XP_005247195.1:p.Met1Val, NP_001012337.1:p.Met93Val, NP_001295242.1:p.Met93Val

Select item 142698266114.

rs1426982661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:125972062 (GRCh38)
3:125690905 (GRCh37)
Canonical SPDI:: NC_000003.12:125972061:A:G
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125972062A>G, NC_000003.11:g.125690905A>G, XM_006713513.4:c.8A>G, XM_006713513.3:c.8A>G, XM_006713513.2:c.8A>G, XM_006713513.1:c.8A>G, NM_001012337.3:c.8A>G, NM_001012337.2:c.8A>G, NM_001012337.1:c.8A>G, NM_001308313.2:c.8A>G, NM_001308313.1:c.8A>G, XP_006713576.1:p.Gln3Arg, NP_001012337.1:p.Gln3Arg, NP_001295242.1:p.Gln3Arg

Select item 142626638515.

rs1426266385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:125975609 (GRCh38)
3:125694452 (GRCh37)
Canonical SPDI:: NC_000003.12:125975608:C:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_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_000003.12:g.125975609C>T, NC_000003.11:g.125694452C>T, XM_006713513.4:c.163C>T, XM_006713513.3:c.163C>T, XM_006713513.2:c.163C>T, XM_006713513.1:c.163C>T, XM_005247138.4:c.-114C>T, XM_005247138.3:c.-114C>T, XM_005247138.2:c.-114C>T, XM_005247138.1:c.-114C>T, NM_001012337.3:c.163C>T, NM_001012337.2:c.163C>T, NM_001012337.1:c.163C>T, NM_001308313.2:c.163C>T, NM_001308313.1:c.163C>T, XP_006713576.1:p.Arg55Trp, NP_001012337.1:p.Arg55Trp, NP_001295242.1:p.Arg55Trp

Select item 142497956116.

rs1424979561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125982286 (GRCh38)
3:125701129 (GRCh37)
Canonical SPDI:: NC_000003.12:125982285:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_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_000003.12:g.125982286T>C, NC_000003.11:g.125701129T>C, XM_006713513.4:c.413T>C, XM_006713513.3:c.413T>C, XM_006713513.2:c.413T>C, XM_006713513.1:c.413T>C, XM_005247138.4:c.137T>C, XM_005247138.3:c.137T>C, XM_005247138.2:c.137T>C, XM_005247138.1:c.137T>C, NM_001012337.3:c.413T>C, NM_001012337.2:c.413T>C, NM_001012337.1:c.413T>C, NM_001308313.2:c.413T>C, NM_001308313.1:c.413T>C, XP_006713576.1:p.Leu138Pro, XP_005247195.1:p.Leu46Pro, NP_001012337.1:p.Leu138Pro, NP_001295242.1:p.Leu138Pro

Select item 141989615317.

rs1419896153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:125977034 (GRCh38)
3:125695877 (GRCh37)
Canonical SPDI:: NC_000003.12:125977033:G:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125977034G>A, NC_000003.11:g.125695877G>A, XM_006713513.4:c.265G>A, XM_006713513.3:c.265G>A, XM_006713513.2:c.265G>A, XM_006713513.1:c.265G>A, XM_005247138.4:c.-12G>A, XM_005247138.3:c.-12G>A, XM_005247138.2:c.-12G>A, XM_005247138.1:c.-12G>A, NM_001012337.3:c.265G>A, NM_001012337.2:c.265G>A, NM_001012337.1:c.265G>A, NM_001308313.2:c.265G>A, NM_001308313.1:c.265G>A, XP_006713576.1:p.Glu89Lys, NP_001012337.1:p.Glu89Lys, NP_001295242.1:p.Glu89Lys

Select item 141175918618.

rs1411759186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125982376 (GRCh38)
3:125701219 (GRCh37)
Canonical SPDI:: NC_000003.12:125982375:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_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_000003.12:g.125982376T>C, NC_000003.11:g.125701219T>C, XM_006713513.4:c.503T>C, XM_006713513.3:c.503T>C, XM_006713513.2:c.503T>C, XM_006713513.1:c.503T>C, XM_005247138.4:c.227T>C, XM_005247138.3:c.227T>C, XM_005247138.2:c.227T>C, XM_005247138.1:c.227T>C, NM_001012337.3:c.503T>C, NM_001012337.2:c.503T>C, NM_001012337.1:c.503T>C, NM_001308313.2:c.503T>C, NM_001308313.1:c.503T>C, XP_006713576.1:p.Ile168Thr, XP_005247195.1:p.Ile76Thr, NP_001012337.1:p.Ile168Thr, NP_001295242.1:p.Ile168Thr

Select item 140983951919.

rs1409839519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:125983262 (GRCh38)
3:125702105 (GRCh37)
Canonical SPDI:: NC_000003.12:125983261:C:G
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.125983262C>G, NC_000003.11:g.125702105C>G, XM_006713513.4:c.581C>G, XM_006713513.3:c.581C>G, XM_006713513.2:c.581C>G, XM_006713513.1:c.581C>G, XM_005247138.4:c.305C>G, XM_005247138.3:c.305C>G, XM_005247138.2:c.305C>G, XM_005247138.1:c.305C>G, NM_001012337.3:c.581C>G, NM_001012337.2:c.581C>G, NM_001012337.1:c.581C>G, NM_001308313.2:c.581C>G, NM_001308313.1:c.581C>G, XP_006713576.1:p.Pro194Arg, XP_005247195.1:p.Pro102Arg, NP_001012337.1:p.Pro194Arg, NP_001295242.1:p.Pro194Arg

Select item 140463168720.

rs1404631687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:125982379 (GRCh38)
3:125701222 (GRCh37)
Canonical SPDI:: NC_000003.12:125982378:C:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125982379C>A, NC_000003.11:g.125701222C>A, XM_006713513.4:c.506C>A, XM_006713513.3:c.506C>A, XM_006713513.2:c.506C>A, XM_006713513.1:c.506C>A, XM_005247138.4:c.230C>A, XM_005247138.3:c.230C>A, XM_005247138.2:c.230C>A, XM_005247138.1:c.230C>A, NM_001012337.3:c.506C>A, NM_001012337.2:c.506C>A, NM_001012337.1:c.506C>A, NM_001308313.2:c.506C>A, NM_001308313.1:c.506C>A, XP_006713576.1:p.Ala169Asp, XP_005247195.1:p.Ala77Asp, NP_001012337.1:p.Ala169Asp, NP_001295242.1:p.Ala169Asp

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