SNP Links for Protein (Select 221219056) - SNP

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Links from Protein

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Select item 14900068361.

rs1490006836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41982306 (GRCh38)
17:40134324 (GRCh37)
Canonical SPDI:: NC_000017.11:41982305:C:G
Gene:: DNAJC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000017.11:g.41982306C>G, NC_000017.10:g.40134324C>G, NW_003571052.1:g.268948C>G, XM_011525167.4:c.1012G>C, XM_011525167.3:c.1012G>C, XM_011525167.2:c.1012G>C, XM_011525167.1:c.1012G>C, XM_011525169.4:c.1012G>C, XM_011525169.3:c.1012G>C, XM_011525169.2:c.1012G>C, XM_011525169.1:c.1012G>C, NM_003315.4:c.1180G>C, NM_003315.3:c.1180G>C, XM_017024994.3:c.1012G>C, XM_017024994.2:c.1012G>C, XM_017024994.1:c.1012G>C, NM_001144766.3:c.1012G>C, NM_001144766.2:c.1012G>C, NR_029431.2:n.1114G>C, NR_029431.1:n.1372G>C, XP_011523469.1:p.Glu338Gln, XP_011523471.1:p.Glu338Gln, NP_003306.3:p.Glu394Gln, XP_016880483.1:p.Glu338Gln, NP_001138238.1:p.Glu338Gln

Select item 14885573412.

rs1488557341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41988853 (GRCh38)
17:40140871 (GRCh37)
Canonical SPDI:: NC_000017.11:41988852:G:A
Gene:: DNAJC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41988853G>A, NC_000017.10:g.40140871G>A, NW_003571052.1:g.275495G>A, XM_011525167.4:c.629C>T, XM_011525167.3:c.629C>T, XM_011525167.2:c.629C>T, XM_011525167.1:c.629C>T, XM_011525169.4:c.629C>T, XM_011525169.3:c.629C>T, XM_011525169.2:c.629C>T, XM_011525169.1:c.629C>T, NM_003315.4:c.797C>T, NM_003315.3:c.797C>T, XR_001752603.3:n.820C>T, XR_001752603.2:n.824C>T, XR_001752603.1:n.861C>T, XM_017024994.3:c.629C>T, XM_017024994.2:c.629C>T, XM_017024994.1:c.629C>T, NM_001144766.3:c.629C>T, NM_001144766.2:c.629C>T, NR_029431.2:n.731C>T, NR_029431.1:n.989C>T, XR_007065438.1:n.820C>T, XP_011523469.1:p.Ala210Val, XP_011523471.1:p.Ala210Val, NP_003306.3:p.Ala266Val, XP_016880483.1:p.Ala210Val, NP_001138238.1:p.Ala210Val

Select item 14816154333.

rs1481615433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41982275 (GRCh38)
17:40134293 (GRCh37)
Canonical SPDI:: NC_000017.11:41982274:C:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41982275C>T, NC_000017.10:g.40134293C>T, NW_003571052.1:g.268917C>T, XM_011525167.4:c.1043G>A, XM_011525167.3:c.1043G>A, XM_011525167.2:c.1043G>A, XM_011525167.1:c.1043G>A, XM_011525169.4:c.1043G>A, XM_011525169.3:c.1043G>A, XM_011525169.2:c.1043G>A, XM_011525169.1:c.1043G>A, NM_003315.4:c.1211G>A, NM_003315.3:c.1211G>A, XM_017024994.3:c.1043G>A, XM_017024994.2:c.1043G>A, XM_017024994.1:c.1043G>A, NM_001144766.3:c.1043G>A, NM_001144766.2:c.1043G>A, NR_029431.2:n.1145G>A, NR_029431.1:n.1403G>A, XP_011523469.1:p.Arg348Gln, XP_011523471.1:p.Arg348Gln, NP_003306.3:p.Arg404Gln, XP_016880483.1:p.Arg348Gln, NP_001138238.1:p.Arg348Gln

Select item 14737396294.

rs1473739629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41981913 (GRCh38)
17:40133931 (GRCh37)
Canonical SPDI:: NC_000017.11:41981912:C:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41981913C>T, NC_000017.10:g.40133931C>T, NW_003571052.1:g.268555C>T, XM_011525167.4:c.1158G>A, XM_011525167.3:c.1158G>A, XM_011525167.2:c.1158G>A, XM_011525167.1:c.1158G>A, XM_011525169.4:c.1158G>A, XM_011525169.3:c.1158G>A, XM_011525169.2:c.1158G>A, XM_011525169.1:c.1158G>A, NM_003315.4:c.1326G>A, NM_003315.3:c.1326G>A, XM_017024994.3:c.1158G>A, XM_017024994.2:c.1158G>A, XM_017024994.1:c.1158G>A, NM_001144766.3:c.1158G>A, NM_001144766.2:c.1158G>A, NR_029431.2:n.1260G>A, NR_029431.1:n.1518G>A

Select item 14610107585.

rs1461010758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41981924 (GRCh38)
17:40133942 (GRCh37)
Canonical SPDI:: NC_000017.11:41981923:A:G
Gene:: DNAJC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41981924A>G, NC_000017.10:g.40133942A>G, NW_003571052.1:g.268566A>G, XM_011525167.4:c.1147T>C, XM_011525167.3:c.1147T>C, XM_011525167.2:c.1147T>C, XM_011525167.1:c.1147T>C, XM_011525169.4:c.1147T>C, XM_011525169.3:c.1147T>C, XM_011525169.2:c.1147T>C, XM_011525169.1:c.1147T>C, NM_003315.4:c.1315T>C, NM_003315.3:c.1315T>C, XM_017024994.3:c.1147T>C, XM_017024994.2:c.1147T>C, XM_017024994.1:c.1147T>C, NM_001144766.3:c.1147T>C, NM_001144766.2:c.1147T>C, NR_029431.2:n.1249T>C, NR_029431.1:n.1507T>C, XP_011523469.1:p.Ser383Pro, XP_011523471.1:p.Ser383Pro, NP_003306.3:p.Ser439Pro, XP_016880483.1:p.Ser383Pro, NP_001138238.1:p.Ser383Pro

Select item 14557249996.

rs1455724999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41994898 (GRCh38)
17:40146916 (GRCh37)
Canonical SPDI:: NC_000017.11:41994897:G:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.41994898G>C, NC_000017.10:g.40146916G>C, NW_003571052.1:g.281540G>C, XM_011525167.4:c.284C>G, XM_011525167.3:c.284C>G, XM_011525167.2:c.284C>G, XM_011525167.1:c.284C>G, XM_011525169.4:c.284C>G, XM_011525169.3:c.284C>G, XM_011525169.2:c.284C>G, XM_011525169.1:c.284C>G, NM_003315.4:c.452C>G, NM_003315.3:c.452C>G, XR_001752603.3:n.475C>G, XR_001752603.2:n.479C>G, XR_001752603.1:n.516C>G, XM_017024994.3:c.284C>G, XM_017024994.2:c.284C>G, XM_017024994.1:c.284C>G, NM_001144766.3:c.284C>G, NM_001144766.2:c.284C>G, NR_029431.2:n.386C>G, NR_029431.1:n.644C>G, XR_007065438.1:n.475C>G, XP_011523469.1:p.Thr95Arg, XP_011523471.1:p.Thr95Arg, NP_003306.3:p.Thr151Arg, XP_016880483.1:p.Thr95Arg, NP_001138238.1:p.Thr95Arg

Select item 14395633527.

rs1439563352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41988798 (GRCh38)
17:40140816 (GRCh37)
Canonical SPDI:: NC_000017.11:41988797:C:G
Gene:: DNAJC7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41988798C>G, NC_000017.10:g.40140816C>G, NW_003571052.1:g.275440C>G, XM_011525167.4:c.684G>C, XM_011525167.3:c.684G>C, XM_011525167.2:c.684G>C, XM_011525167.1:c.684G>C, XM_011525169.4:c.684G>C, XM_011525169.3:c.684G>C, XM_011525169.2:c.684G>C, XM_011525169.1:c.684G>C, NM_003315.4:c.852G>C, NM_003315.3:c.852G>C, XR_001752603.3:n.875G>C, XR_001752603.2:n.879G>C, XR_001752603.1:n.916G>C, XM_017024994.3:c.684G>C, XM_017024994.2:c.684G>C, XM_017024994.1:c.684G>C, NM_001144766.3:c.684G>C, NM_001144766.2:c.684G>C, NR_029431.2:n.786G>C, NR_029431.1:n.1044G>C, XR_007065438.1:n.875G>C

Select item 14393312638.

rs1439331263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:41977277 (GRCh38)
17:40129295 (GRCh37)
Canonical SPDI:: NC_000017.11:41977276:G:A,NC_000017.11:41977276:G:T
Gene:: CNP (Varview), DNAJC7 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41977277G>A, NC_000017.11:g.41977277G>T, NC_000017.10:g.40129295G>A, NC_000017.10:g.40129295G>T, NW_003571052.1:g.263919G>A, NW_003571052.1:g.263919G>T, NM_033133.5:c.*3353G>A, NM_033133.5:c.*3353G>T, NM_033133.4:c.*3353G>A, NM_033133.4:c.*3353G>T, XM_011525167.4:c.1263C>T, XM_011525167.4:c.1263C>A, XM_011525167.3:c.1263C>T, XM_011525167.3:c.1263C>A, XM_011525167.2:c.1263C>T, XM_011525167.2:c.1263C>A, XM_011525167.1:c.1263C>T, XM_011525167.1:c.1263C>A, XM_011525169.4:c.1263C>T, XM_011525169.4:c.1263C>A, XM_011525169.3:c.1263C>T, XM_011525169.3:c.1263C>A, XM_011525169.2:c.1263C>T, XM_011525169.2:c.1263C>A, XM_011525169.1:c.1263C>T, XM_011525169.1:c.1263C>A, NM_003315.4:c.1431C>T, NM_003315.4:c.1431C>A, NM_003315.3:c.1431C>T, NM_003315.3:c.1431C>A, XM_011524340.3:c.*3353G>A, XM_011524340.3:c.*3353G>T, XM_017024994.3:c.1263C>T, XM_017024994.3:c.1263C>A, XM_017024994.2:c.1263C>T, XM_017024994.2:c.1263C>A, XM_017024994.1:c.1263C>T, XM_017024994.1:c.1263C>A, NM_001144766.3:c.1263C>T, NM_001144766.3:c.1263C>A, NM_001144766.2:c.1263C>T, NM_001144766.2:c.1263C>A, NM_001330216.2:c.*3353G>A, NM_001330216.2:c.*3353G>T, NM_001330216.1:c.*3353G>A, NM_001330216.1:c.*3353G>T, NR_029431.2:n.1365C>T, NR_029431.2:n.1365C>A, NR_029431.1:n.1623C>T, NR_029431.1:n.1623C>A

Select item 14265679229.

rs1426567922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41990365 (GRCh38)
17:40142383 (GRCh37)
Canonical SPDI:: NC_000017.11:41990364:G:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41990365G>T, NC_000017.10:g.40142383G>T, NW_003571052.1:g.277007G>T, XM_011525167.4:c.330C>A, XM_011525167.3:c.330C>A, XM_011525167.2:c.330C>A, XM_011525167.1:c.330C>A, XM_011525169.4:c.330C>A, XM_011525169.3:c.330C>A, XM_011525169.2:c.330C>A, XM_011525169.1:c.330C>A, NM_003315.4:c.498C>A, NM_003315.3:c.498C>A, XR_001752603.3:n.521C>A, XR_001752603.2:n.525C>A, XR_001752603.1:n.562C>A, XM_017024994.3:c.330C>A, XM_017024994.2:c.330C>A, XM_017024994.1:c.330C>A, NM_001144766.3:c.330C>A, NM_001144766.2:c.330C>A, NR_029431.2:n.432C>A, NR_029431.1:n.690C>A, XR_007065438.1:n.521C>A, XP_011523469.1:p.Asp110Glu, XP_011523471.1:p.Asp110Glu, NP_003306.3:p.Asp166Glu, XP_016880483.1:p.Asp110Glu, NP_001138238.1:p.Asp110Glu

Select item 142638916510.

rs1426389165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41997222 (GRCh38)
17:40149240 (GRCh37)
Canonical SPDI:: NC_000017.11:41997221:C:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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_000017.11:g.41997222C>T, NC_000017.10:g.40149240C>T, NW_003571052.1:g.283864C>T, XM_011525167.4:c.16G>A, XM_011525167.3:c.16G>A, XM_011525167.2:c.16G>A, XM_011525167.1:c.16G>A, XM_011525169.4:c.16G>A, XM_011525169.3:c.16G>A, XM_011525169.2:c.16G>A, XM_011525169.1:c.16G>A, NM_003315.4:c.184G>A, NM_003315.3:c.184G>A, XR_001752603.3:n.207G>A, XR_001752603.2:n.211G>A, XR_001752603.1:n.248G>A, XM_017024994.3:c.16G>A, XM_017024994.2:c.16G>A, XM_017024994.1:c.16G>A, NM_001144766.3:c.16G>A, NM_001144766.2:c.16G>A, NR_029431.2:n.118G>A, NR_029431.1:n.376G>A, XR_007065438.1:n.207G>A, XP_011523469.1:p.Ala6Thr, XP_011523471.1:p.Ala6Thr, NP_003306.3:p.Ala62Thr, XP_016880483.1:p.Ala6Thr, NP_001138238.1:p.Ala6Thr

Select item 142309293811.

rs1423092938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41988780 (GRCh38)
17:40140798 (GRCh37)
Canonical SPDI:: NC_000017.11:41988779:T:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00003/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41988780T>C, NC_000017.10:g.40140798T>C, NW_003571052.1:g.275422T>C, XM_011525167.4:c.702A>G, XM_011525167.3:c.702A>G, XM_011525167.2:c.702A>G, XM_011525167.1:c.702A>G, XM_011525169.4:c.702A>G, XM_011525169.3:c.702A>G, XM_011525169.2:c.702A>G, XM_011525169.1:c.702A>G, NM_003315.4:c.870A>G, NM_003315.3:c.870A>G, XR_001752603.3:n.893A>G, XR_001752603.2:n.897A>G, XR_001752603.1:n.934A>G, XM_017024994.3:c.702A>G, XM_017024994.2:c.702A>G, XM_017024994.1:c.702A>G, NM_001144766.3:c.702A>G, NM_001144766.2:c.702A>G, NR_029431.2:n.804A>G, NR_029431.1:n.1062A>G, XR_007065438.1:n.893A>G, XP_011523469.1:p.Ile234Met, XP_011523471.1:p.Ile234Met, NP_003306.3:p.Ile290Met, XP_016880483.1:p.Ile234Met, NP_001138238.1:p.Ile234Met

Select item 141860051112.

rs1418600511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41981886 (GRCh38)
17:40133904 (GRCh37)
Canonical SPDI:: NC_000017.11:41981885:C:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000142/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.41981886C>T, NC_000017.10:g.40133904C>T, NW_003571052.1:g.268528C>T, XM_011525167.4:c.1185G>A, XM_011525167.3:c.1185G>A, XM_011525167.2:c.1185G>A, XM_011525167.1:c.1185G>A, XM_011525169.4:c.1185G>A, XM_011525169.3:c.1185G>A, XM_011525169.2:c.1185G>A, XM_011525169.1:c.1185G>A, NM_003315.4:c.1353G>A, NM_003315.3:c.1353G>A, XM_017024994.3:c.1185G>A, XM_017024994.2:c.1185G>A, XM_017024994.1:c.1185G>A, NM_001144766.3:c.1185G>A, NM_001144766.2:c.1185G>A, NR_029431.2:n.1287G>A, NR_029431.1:n.1545G>A

Select item 141646623113.

rs1416466231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41997219 (GRCh38)
17:40149237 (GRCh37)
Canonical SPDI:: NC_000017.11:41997218:T:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000048/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41997219T>C, NC_000017.10:g.40149237T>C, NW_003571052.1:g.283861T>C, XM_011525167.4:c.19A>G, XM_011525167.3:c.19A>G, XM_011525167.2:c.19A>G, XM_011525167.1:c.19A>G, XM_011525169.4:c.19A>G, XM_011525169.3:c.19A>G, XM_011525169.2:c.19A>G, XM_011525169.1:c.19A>G, NM_003315.4:c.187A>G, NM_003315.3:c.187A>G, XR_001752603.3:n.210A>G, XR_001752603.2:n.214A>G, XR_001752603.1:n.251A>G, XM_017024994.3:c.19A>G, XM_017024994.2:c.19A>G, XM_017024994.1:c.19A>G, NM_001144766.3:c.19A>G, NM_001144766.2:c.19A>G, NR_029431.2:n.121A>G, NR_029431.1:n.379A>G, XR_007065438.1:n.210A>G, XP_011523469.1:p.Ser7Gly, XP_011523471.1:p.Ser7Gly, NP_003306.3:p.Ser63Gly, XP_016880483.1:p.Ser7Gly, NP_001138238.1:p.Ser7Gly

Select item 141029992314.

rs1410299923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:41981883 (GRCh38)
17:40133901 (GRCh37)
Canonical SPDI:: NC_000017.11:41981882:G:A,NC_000017.11:41981882:G:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41981883G>A, NC_000017.11:g.41981883G>C, NC_000017.10:g.40133901G>A, NC_000017.10:g.40133901G>C, NW_003571052.1:g.268525G>A, NW_003571052.1:g.268525G>C, XM_011525167.4:c.1188C>T, XM_011525167.4:c.1188C>G, XM_011525167.3:c.1188C>T, XM_011525167.3:c.1188C>G, XM_011525167.2:c.1188C>T, XM_011525167.2:c.1188C>G, XM_011525167.1:c.1188C>T, XM_011525167.1:c.1188C>G, XM_011525169.4:c.1188C>T, XM_011525169.4:c.1188C>G, XM_011525169.3:c.1188C>T, XM_011525169.3:c.1188C>G, XM_011525169.2:c.1188C>T, XM_011525169.2:c.1188C>G, XM_011525169.1:c.1188C>T, XM_011525169.1:c.1188C>G, NM_003315.4:c.1356C>T, NM_003315.4:c.1356C>G, NM_003315.3:c.1356C>T, NM_003315.3:c.1356C>G, XM_017024994.3:c.1188C>T, XM_017024994.3:c.1188C>G, XM_017024994.2:c.1188C>T, XM_017024994.2:c.1188C>G, XM_017024994.1:c.1188C>T, XM_017024994.1:c.1188C>G, NM_001144766.3:c.1188C>T, NM_001144766.3:c.1188C>G, NM_001144766.2:c.1188C>T, NM_001144766.2:c.1188C>G, NR_029431.2:n.1290C>T, NR_029431.2:n.1290C>G, NR_029431.1:n.1548C>T, NR_029431.1:n.1548C>G, XP_011523469.1:p.Asp396Glu, XP_011523471.1:p.Asp396Glu, NP_003306.3:p.Asp452Glu, XP_016880483.1:p.Asp396Glu, NP_001138238.1:p.Asp396Glu

Select item 140713061515.

rs1407130615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41989446 (GRCh38)
17:40141464 (GRCh37)
Canonical SPDI:: NC_000017.11:41989445:G:A
Gene:: DNAJC7 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.41989446G>A, NC_000017.10:g.40141464G>A, NW_003571052.1:g.276088G>A, XM_011525167.4:c.543C>T, XM_011525167.3:c.543C>T, XM_011525167.2:c.543C>T, XM_011525167.1:c.543C>T, XM_011525169.4:c.543C>T, XM_011525169.3:c.543C>T, XM_011525169.2:c.543C>T, XM_011525169.1:c.543C>T, NM_003315.4:c.711C>T, NM_003315.3:c.711C>T, XR_001752603.3:n.734C>T, XR_001752603.2:n.738C>T, XR_001752603.1:n.775C>T, XM_017024994.3:c.543C>T, XM_017024994.2:c.543C>T, XM_017024994.1:c.543C>T, NM_001144766.3:c.543C>T, NM_001144766.2:c.543C>T, NR_029431.2:n.645C>T, NR_029431.1:n.903C>T, XR_007065438.1:n.734C>T

Select item 140467328416.

rs1404673284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41990337 (GRCh38)
17:40142355 (GRCh37)
Canonical SPDI:: NC_000017.11:41990336:G:A
Gene:: DNAJC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41990337G>A, NC_000017.10:g.40142355G>A, NW_003571052.1:g.276979G>A, XM_011525167.4:c.358C>T, XM_011525167.3:c.358C>T, XM_011525167.2:c.358C>T, XM_011525167.1:c.358C>T, XM_011525169.4:c.358C>T, XM_011525169.3:c.358C>T, XM_011525169.2:c.358C>T, XM_011525169.1:c.358C>T, NM_003315.4:c.526C>T, NM_003315.3:c.526C>T, XR_001752603.3:n.549C>T, XR_001752603.2:n.553C>T, XR_001752603.1:n.590C>T, XM_017024994.3:c.358C>T, XM_017024994.2:c.358C>T, XM_017024994.1:c.358C>T, NM_001144766.3:c.358C>T, NM_001144766.2:c.358C>T, NR_029431.2:n.460C>T, NR_029431.1:n.718C>T, XR_007065438.1:n.549C>T, XP_011523469.1:p.His120Tyr, XP_011523471.1:p.His120Tyr, NP_003306.3:p.His176Tyr, XP_016880483.1:p.His120Tyr, NP_001138238.1:p.His120Tyr

Select item 140348127817.

rs1403481278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41981869 (GRCh38)
17:40133887 (GRCh37)
Canonical SPDI:: NC_000017.11:41981868:C:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41981869C>T, NC_000017.10:g.40133887C>T, NW_003571052.1:g.268511C>T, XM_011525167.4:c.1202G>A, XM_011525167.3:c.1202G>A, XM_011525167.2:c.1202G>A, XM_011525167.1:c.1202G>A, XM_011525169.4:c.1202G>A, XM_011525169.3:c.1202G>A, XM_011525169.2:c.1202G>A, XM_011525169.1:c.1202G>A, NM_003315.4:c.1370G>A, NM_003315.3:c.1370G>A, XM_017024994.3:c.1202G>A, XM_017024994.2:c.1202G>A, XM_017024994.1:c.1202G>A, NM_001144766.3:c.1202G>A, NM_001144766.2:c.1202G>A, NR_029431.2:n.1304G>A, NR_029431.1:n.1562G>A, XP_011523469.1:p.Gly401Asp, XP_011523471.1:p.Gly401Asp, NP_003306.3:p.Gly457Asp, XP_016880483.1:p.Gly401Asp, NP_001138238.1:p.Gly401Asp

Select item 140290422518.

rs1402904225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41996336 (GRCh38)
17:40148354 (GRCh37)
Canonical SPDI:: NC_000017.11:41996335:T:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41996336T>C, NC_000017.10:g.40148354T>C, NW_003571052.1:g.282978T>C, XM_011525167.4:c.212A>G, XM_011525167.3:c.212A>G, XM_011525167.2:c.212A>G, XM_011525167.1:c.212A>G, XM_011525169.4:c.212A>G, XM_011525169.3:c.212A>G, XM_011525169.2:c.212A>G, XM_011525169.1:c.212A>G, NM_003315.4:c.380A>G, NM_003315.3:c.380A>G, XR_001752603.3:n.403A>G, XR_001752603.2:n.407A>G, XR_001752603.1:n.444A>G, XM_017024994.3:c.212A>G, XM_017024994.2:c.212A>G, XM_017024994.1:c.212A>G, NM_001144766.3:c.212A>G, NM_001144766.2:c.212A>G, NR_029431.2:n.314A>G, NR_029431.1:n.572A>G, XR_007065438.1:n.403A>G, XP_011523469.1:p.His71Arg, XP_011523471.1:p.His71Arg, NP_003306.3:p.His127Arg, XP_016880483.1:p.His71Arg, NP_001138238.1:p.His71Arg

Select item 139949373919.

rs1399493739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:41987868 (GRCh38)
17:40139886 (GRCh37)
Canonical SPDI:: NC_000017.11:41987867:C:G,NC_000017.11:41987867:C:T
Gene:: DNAJC7 (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=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41987868C>G, NC_000017.11:g.41987868C>T, NC_000017.10:g.40139886C>G, NC_000017.10:g.40139886C>T, NW_003571052.1:g.274510C>G, NW_003571052.1:g.274510C>T, XM_011525167.4:c.793G>C, XM_011525167.4:c.793G>A, XM_011525167.3:c.793G>C, XM_011525167.3:c.793G>A, XM_011525167.2:c.793G>C, XM_011525167.2:c.793G>A, XM_011525167.1:c.793G>C, XM_011525167.1:c.793G>A, XM_011525169.4:c.793G>C, XM_011525169.4:c.793G>A, XM_011525169.3:c.793G>C, XM_011525169.3:c.793G>A, XM_011525169.2:c.793G>C, XM_011525169.2:c.793G>A, XM_011525169.1:c.793G>C, XM_011525169.1:c.793G>A, NM_003315.4:c.961G>C, NM_003315.4:c.961G>A, NM_003315.3:c.961G>C, NM_003315.3:c.961G>A, XR_001752603.3:n.984G>C, XR_001752603.3:n.984G>A, XR_001752603.2:n.988G>C, XR_001752603.2:n.988G>A, XR_001752603.1:n.1025G>C, XR_001752603.1:n.1025G>A, XM_017024994.3:c.793G>C, XM_017024994.3:c.793G>A, XM_017024994.2:c.793G>C, XM_017024994.2:c.793G>A, XM_017024994.1:c.793G>C, XM_017024994.1:c.793G>A, NM_001144766.3:c.793G>C, NM_001144766.3:c.793G>A, NM_001144766.2:c.793G>C, NM_001144766.2:c.793G>A, NR_029431.2:n.895G>C, NR_029431.2:n.895G>A, NR_029431.1:n.1153G>C, NR_029431.1:n.1153G>A, XR_007065438.1:n.984G>C, XR_007065438.1:n.984G>A, XP_011523469.1:p.Val265Leu, XP_011523469.1:p.Val265Met, XP_011523471.1:p.Val265Leu, XP_011523471.1:p.Val265Met, NP_003306.3:p.Val321Leu, NP_003306.3:p.Val321Met, XP_016880483.1:p.Val265Leu, XP_016880483.1:p.Val265Met, NP_001138238.1:p.Val265Leu, NP_001138238.1:p.Val265Met

Select item 139782209220.

rs1397822092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41996314 (GRCh38)
17:40148332 (GRCh37)
Canonical SPDI:: NC_000017.11:41996313:T:G
Gene:: DNAJC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41996314T>G, NC_000017.10:g.40148332T>G, NW_003571052.1:g.282956T>G, XM_011525167.4:c.234A>C, XM_011525167.3:c.234A>C, XM_011525167.2:c.234A>C, XM_011525167.1:c.234A>C, XM_011525169.4:c.234A>C, XM_011525169.3:c.234A>C, XM_011525169.2:c.234A>C, XM_011525169.1:c.234A>C, NM_003315.4:c.402A>C, NM_003315.3:c.402A>C, XR_001752603.3:n.425A>C, XR_001752603.2:n.429A>C, XR_001752603.1:n.466A>C, XM_017024994.3:c.234A>C, XM_017024994.2:c.234A>C, XM_017024994.1:c.234A>C, NM_001144766.3:c.234A>C, NM_001144766.2:c.234A>C, NR_029431.2:n.336A>C, NR_029431.1:n.594A>C, XR_007065438.1:n.425A>C, XP_011523469.1:p.Gln78His, XP_011523471.1:p.Gln78His, NP_003306.3:p.Gln134His, XP_016880483.1:p.Gln78His, NP_001138238.1:p.Gln78His

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