SNP Links for Protein (Select 625180311) - SNP

Links from Protein

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Select item 14882650971.

rs1488265097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:39960132 (GRCh38)
22:40356136 (GRCh37)
Canonical SPDI:: NC_000022.11:39960131:G:A,NC_000022.11:39960131:G:C
Gene:: GRAP2 (Varview), LOC112268293 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.39960132G>A, NC_000022.11:g.39960132G>C, NC_000022.10:g.40356136G>A, NC_000022.10:g.40356136G>C, NM_004810.4:c.248G>A, NM_004810.4:c.248G>C, NM_004810.3:c.248G>A, NM_004810.3:c.248G>C, NM_004810.2:c.248G>A, NM_004810.2:c.248G>C, NM_001291824.2:c.248G>A, NM_001291824.2:c.248G>C, NM_001291824.1:c.248G>A, NM_001291824.1:c.248G>C, NM_001291826.2:c.32G>A, NM_001291826.2:c.32G>C, NM_001291826.1:c.32G>A, NM_001291826.1:c.32G>C, NM_001291828.2:c.78G>A, NM_001291828.2:c.78G>C, NM_001291828.1:c.78G>A, NM_001291828.1:c.78G>C, XM_047441607.1:c.248G>A, XM_047441607.1:c.248G>C, XM_047441608.1:c.170G>A, XM_047441608.1:c.170G>C, NM_001291825.1:c.248G>A, NM_001291825.1:c.248G>C, XR_007067996.1:n.512G>A, XR_007067996.1:n.512G>C, XR_007067995.1:n.509G>A, XR_007067995.1:n.509G>C, NP_004801.1:p.Arg83Gln, NP_004801.1:p.Arg83Pro, NP_001278753.1:p.Arg83Gln, NP_001278753.1:p.Arg83Pro, NP_001278755.1:p.Arg11Gln, NP_001278755.1:p.Arg11Pro, XP_047297563.1:p.Arg83Gln, XP_047297563.1:p.Arg83Pro, XP_047297564.1:p.Arg57Gln, XP_047297564.1:p.Arg57Pro, NP_001278754.1:p.Arg83Gln, NP_001278754.1:p.Arg83Pro

Select item 14787338702.

rs1478733870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:39969425 (GRCh38)
22:40365429 (GRCh37)
Canonical SPDI:: NC_000022.11:39969424:C:A
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39969425C>A, NC_000022.10:g.40365429C>A, NM_004810.4:c.705C>A, NM_004810.3:c.705C>A, NM_004810.2:c.705C>A, NM_001291824.2:c.705C>A, NM_001291824.1:c.705C>A, NM_001291826.2:c.489C>A, NM_001291826.1:c.489C>A, NM_001291828.2:c.366C>A, NM_001291828.1:c.366C>A, XM_047441607.1:c.705C>A, XM_047441608.1:c.627C>A, NM_001291825.1:c.705C>A, XR_007067996.1:n.969C>A, XR_007067995.1:n.966C>A

Select item 14784950613.

rs1478495061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:39947123 (GRCh38)
22:40343127 (GRCh37)
Canonical SPDI:: NC_000022.11:39947122:A:T
Gene:: GRAP2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39947123A>T, NC_000022.10:g.40343127A>T, NM_004810.4:c.17A>T, NM_004810.3:c.17A>T, NM_004810.2:c.17A>T, NM_001291824.2:c.17A>T, NM_001291824.1:c.17A>T, NM_001291826.2:c.-108A>T, NM_001291826.1:c.-108A>T, XM_047441607.1:c.17A>T, NM_001291825.1:c.17A>T, XR_007067996.1:n.281A>T, XR_007067995.1:n.278A>T, NP_004801.1:p.Lys6Met, NP_001278753.1:p.Lys6Met, XP_047297563.1:p.Lys6Met, NP_001278754.1:p.Lys6Met

Select item 14738529184.

rs1473852918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:39947130 (GRCh38)
22:40343134 (GRCh37)
Canonical SPDI:: NC_000022.11:39947129:T:G
Gene:: GRAP2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39947130T>G, NC_000022.10:g.40343134T>G, NM_004810.4:c.24T>G, NM_004810.3:c.24T>G, NM_004810.2:c.24T>G, NM_001291824.2:c.24T>G, NM_001291824.1:c.24T>G, NM_001291826.2:c.-101T>G, NM_001291826.1:c.-101T>G, XM_047441607.1:c.24T>G, NM_001291825.1:c.24T>G, XR_007067996.1:n.288T>G, XR_007067995.1:n.285T>G, NP_004801.1:p.Asp8Glu, NP_001278753.1:p.Asp8Glu, XP_047297563.1:p.Asp8Glu, NP_001278754.1:p.Asp8Glu

Select item 14736142075.

rs1473614207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:39968175 (GRCh38)
22:40364179 (GRCh37)
Canonical SPDI:: NC_000022.11:39968174:A:C
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39968175A>C, NC_000022.10:g.40364179A>C, NM_004810.4:c.593A>C, NM_004810.3:c.593A>C, NM_004810.2:c.593A>C, NM_001291824.2:c.593A>C, NM_001291824.1:c.593A>C, NM_001291826.2:c.377A>C, NM_001291826.1:c.377A>C, NM_001291828.2:c.254A>C, NM_001291828.1:c.254A>C, XM_047441607.1:c.593A>C, XM_047441608.1:c.515A>C, NM_001291825.1:c.593A>C, XR_007067996.1:n.857A>C, XR_007067995.1:n.854A>C, NP_004801.1:p.His198Pro, NP_001278753.1:p.His198Pro, NP_001278755.1:p.His126Pro, NP_001278757.1:p.His85Pro, XP_047297563.1:p.His198Pro, XP_047297564.1:p.His172Pro, NP_001278754.1:p.His198Pro

Select item 14659350516.

rs1465935051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:39965998 (GRCh38)
22:40362002 (GRCh37)
Canonical SPDI:: NC_000022.11:39965997:A:G
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39965998A>G, NC_000022.10:g.40362002A>G, NM_004810.4:c.299A>G, NM_004810.3:c.299A>G, NM_004810.2:c.299A>G, NM_001291824.2:c.299A>G, NM_001291824.1:c.299A>G, NM_001291826.2:c.83A>G, NM_001291826.1:c.83A>G, XM_047441607.1:c.299A>G, XM_047441608.1:c.221A>G, NM_001291825.1:c.299A>G, XR_007067996.1:n.563A>G, XR_007067995.1:n.560A>G, NP_004801.1:p.Asp100Gly, NP_001278753.1:p.Asp100Gly, NP_001278755.1:p.Asp28Gly, XP_047297563.1:p.Asp100Gly, XP_047297564.1:p.Asp74Gly, NP_001278754.1:p.Asp100Gly

Select item 14636752697.

rs1463675269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:39955831 (GRCh38)
22:40351835 (GRCh37)
Canonical SPDI:: NC_000022.11:39955830:C:A
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39955831C>A, NC_000022.10:g.40351835C>A, NM_004810.4:c.91C>A, NM_004810.3:c.91C>A, NM_004810.2:c.91C>A, NM_001291824.2:c.91C>A, NM_001291824.1:c.91C>A, XM_047441607.1:c.91C>A, NM_001291825.1:c.91C>A, XR_007067996.1:n.355C>A, XR_007067995.1:n.352C>A, NP_004801.1:p.Gln31Lys, NP_001278753.1:p.Gln31Lys, XP_047297563.1:p.Gln31Lys, NP_001278754.1:p.Gln31Lys

Select item 14615974848.

rs1461597484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:39966005 (GRCh38)
22:40362009 (GRCh37)
Canonical SPDI:: NC_000022.11:39966004:T:G
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39966005T>G, NC_000022.10:g.40362009T>G, NM_004810.4:c.306T>G, NM_004810.3:c.306T>G, NM_004810.2:c.306T>G, NM_001291824.2:c.306T>G, NM_001291824.1:c.306T>G, NM_001291826.2:c.90T>G, NM_001291826.1:c.90T>G, XM_047441607.1:c.306T>G, XM_047441608.1:c.228T>G, NM_001291825.1:c.306T>G, XR_007067996.1:n.570T>G, XR_007067995.1:n.567T>G

Select item 14589591159.

rs1458959115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:39966039 (GRCh38)
22:40362043 (GRCh37)
Canonical SPDI:: NC_000022.11:39966038:A:G
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39966039A>G, NC_000022.10:g.40362043A>G, NM_004810.4:c.340A>G, NM_004810.3:c.340A>G, NM_004810.2:c.340A>G, NM_001291824.2:c.340A>G, NM_001291824.1:c.340A>G, NM_001291826.2:c.124A>G, NM_001291826.1:c.124A>G, XM_047441607.1:c.340A>G, XM_047441608.1:c.262A>G, NM_001291825.1:c.340A>G, XR_007067996.1:n.604A>G, XR_007067995.1:n.601A>G, NP_004801.1:p.Asn114Asp, NP_001278753.1:p.Asn114Asp, NP_001278755.1:p.Asn42Asp, XP_047297563.1:p.Asn114Asp, XP_047297564.1:p.Asn88Asp, NP_001278754.1:p.Asn114Asp

Select item 145653218510.

rs1456532185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:39968182 (GRCh38)
22:40364186 (GRCh37)
Canonical SPDI:: NC_000022.11:39968181:C:A
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39968182C>A, NC_000022.10:g.40364186C>A, NM_004810.4:c.600C>A, NM_004810.3:c.600C>A, NM_004810.2:c.600C>A, NM_001291824.2:c.600C>A, NM_001291824.1:c.600C>A, NM_001291826.2:c.384C>A, NM_001291826.1:c.384C>A, NM_001291828.2:c.261C>A, NM_001291828.1:c.261C>A, XM_047441607.1:c.600C>A, XM_047441608.1:c.522C>A, NM_001291825.1:c.600C>A, XR_007067996.1:n.864C>A, XR_007067995.1:n.861C>A, NP_004801.1:p.His200Gln, NP_001278753.1:p.His200Gln, NP_001278755.1:p.His128Gln, NP_001278757.1:p.His87Gln, XP_047297563.1:p.His200Gln, XP_047297564.1:p.His174Gln, NP_001278754.1:p.His200Gln

Select item 145632580511.

rs1456325805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39955881 (GRCh38)
22:40351885 (GRCh37)
Canonical SPDI:: NC_000022.11:39955880:C:T
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39955881C>T, NC_000022.10:g.40351885C>T, NM_004810.4:c.141C>T, NM_004810.3:c.141C>T, NM_004810.2:c.141C>T, NM_001291824.2:c.141C>T, NM_001291824.1:c.141C>T, XM_047441607.1:c.141C>T, NM_001291825.1:c.141C>T, XR_007067996.1:n.405C>T, XR_007067995.1:n.402C>T

Select item 144785600012.

rs1447856000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:39966129 (GRCh38)
22:40362133 (GRCh37)
Canonical SPDI:: NC_000022.11:39966128:T:G
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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=0.000036/5 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.39966129T>G, NC_000022.10:g.40362133T>G, NM_004810.4:c.430T>G, NM_004810.3:c.430T>G, NM_004810.2:c.430T>G, NM_001291824.2:c.430T>G, NM_001291824.1:c.430T>G, NM_001291826.2:c.214T>G, NM_001291826.1:c.214T>G, XM_047441607.1:c.430T>G, XM_047441608.1:c.352T>G, NM_001291825.1:c.430T>G, XR_007067996.1:n.694T>G, XR_007067995.1:n.691T>G, NP_004801.1:p.Phe144Val, NP_001278753.1:p.Phe144Val, NP_001278755.1:p.Phe72Val, XP_047297563.1:p.Phe144Val, XP_047297564.1:p.Phe118Val, NP_001278754.1:p.Phe144Val

Select item 144071617713.

rs1440716177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:39970977 (GRCh38)
22:40366981 (GRCh37)
Canonical SPDI:: NC_000022.11:39970976:G:C
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.39970977G>C, NC_000022.10:g.40366981G>C, NM_004810.4:c.886G>C, NM_004810.3:c.886G>C, NM_004810.2:c.886G>C, NM_001291824.2:c.886G>C, NM_001291824.1:c.886G>C, NM_001291826.2:c.670G>C, NM_001291826.1:c.670G>C, NM_001291828.2:c.547G>C, NM_001291828.1:c.547G>C, XM_047441607.1:c.886G>C, XM_047441608.1:c.808G>C, NM_001291825.1:c.886G>C, XR_007067996.1:n.1150G>C, XR_007067995.1:n.1147G>C, NP_004801.1:p.Glu296Gln, NP_001278753.1:p.Glu296Gln, NP_001278755.1:p.Glu224Gln, NP_001278757.1:p.Glu183Gln, XP_047297563.1:p.Glu296Gln, XP_047297564.1:p.Glu270Gln, NP_001278754.1:p.Glu296Gln

Select item 144024803114.

rs1440248031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39947175 (GRCh38)
22:40343179 (GRCh37)
Canonical SPDI:: NC_000022.11:39947174:T:C
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.39947175T>C, NC_000022.10:g.40343179T>C, NM_004810.4:c.69T>C, NM_004810.3:c.69T>C, NM_004810.2:c.69T>C, NM_001291824.2:c.69T>C, NM_001291824.1:c.69T>C, NM_001291826.2:c.-56T>C, NM_001291826.1:c.-56T>C, XM_047441607.1:c.69T>C, NM_001291825.1:c.69T>C, XR_007067996.1:n.333T>C, XR_007067995.1:n.330T>C

Select item 143769034615.

rs1437690346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39969518 (GRCh38)
22:40365522 (GRCh37)
Canonical SPDI:: NC_000022.11:39969517:G:A
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39969518G>A, NC_000022.10:g.40365522G>A, NM_004810.4:c.798G>A, NM_004810.3:c.798G>A, NM_004810.2:c.798G>A, NM_001291824.2:c.798G>A, NM_001291824.1:c.798G>A, NM_001291826.2:c.582G>A, NM_001291826.1:c.582G>A, NM_001291828.2:c.459G>A, NM_001291828.1:c.459G>A, XM_047441607.1:c.798G>A, XM_047441608.1:c.720G>A, NM_001291825.1:c.798G>A, XR_007067996.1:n.1062G>A, XR_007067995.1:n.1059G>A

Select item 143557414816.

rs1435574148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39968047 (GRCh38)
22:40364051 (GRCh37)
Canonical SPDI:: NC_000022.11:39968046:C:T
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39968047C>T, NC_000022.10:g.40364051C>T, NM_004810.4:c.465C>T, NM_004810.3:c.465C>T, NM_004810.2:c.465C>T, NM_001291824.2:c.465C>T, NM_001291824.1:c.465C>T, NM_001291826.2:c.249C>T, NM_001291826.1:c.249C>T, NM_001291828.2:c.126C>T, NM_001291828.1:c.126C>T, XM_047441607.1:c.465C>T, XM_047441608.1:c.387C>T, NM_001291825.1:c.465C>T, XR_007067996.1:n.729C>T, XR_007067995.1:n.726C>T

Select item 143358520217.

rs1433585202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39970922 (GRCh38)
22:40366926 (GRCh37)
Canonical SPDI:: NC_000022.11:39970921:G:A
Gene:: GRAP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.39970922G>A, NC_000022.10:g.40366926G>A, NM_004810.4:c.831G>A, NM_004810.3:c.831G>A, NM_004810.2:c.831G>A, NM_001291824.2:c.831G>A, NM_001291824.1:c.831G>A, NM_001291826.2:c.615G>A, NM_001291826.1:c.615G>A, NM_001291828.2:c.492G>A, NM_001291828.1:c.492G>A, XM_047441607.1:c.831G>A, XM_047441608.1:c.753G>A, NM_001291825.1:c.831G>A, XR_007067996.1:n.1095G>A, XR_007067995.1:n.1092G>A

Select item 143138713518.

rs1431387135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39960096 (GRCh38)
22:40356100 (GRCh37)
Canonical SPDI:: NC_000022.11:39960095:T:C
Gene:: GRAP2 (Varview), LOC112268293 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.39960096T>C, NC_000022.10:g.40356100T>C, NM_004810.4:c.212T>C, NM_004810.3:c.212T>C, NM_004810.2:c.212T>C, NM_001291824.2:c.212T>C, NM_001291824.1:c.212T>C, NM_001291826.2:c.-5T>C, NM_001291826.1:c.-5T>C, NM_001291828.2:c.42T>C, NM_001291828.1:c.42T>C, XM_047441607.1:c.212T>C, XM_047441608.1:c.134T>C, NM_001291825.1:c.212T>C, XR_007067996.1:n.476T>C, XR_007067995.1:n.473T>C, NP_004801.1:p.Leu71Ser, NP_001278753.1:p.Leu71Ser, XP_047297563.1:p.Leu71Ser, XP_047297564.1:p.Leu45Ser, NP_001278754.1:p.Leu71Ser

Select item 143103915019.

rs1431039150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:39960086 (GRCh38)
22:40356090 (GRCh37)
Canonical SPDI:: NC_000022.11:39960085:G:T
Gene:: GRAP2 (Varview), LOC112268293 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39960086G>T, NC_000022.10:g.40356090G>T, NM_004810.4:c.202G>T, NM_004810.3:c.202G>T, NM_004810.2:c.202G>T, NM_001291824.2:c.202G>T, NM_001291824.1:c.202G>T, NM_001291826.2:c.-15G>T, NM_001291826.1:c.-15G>T, NM_001291828.2:c.32G>T, NM_001291828.1:c.32G>T, XM_047441607.1:c.202G>T, XM_047441608.1:c.124G>T, NM_001291825.1:c.202G>T, XR_007067996.1:n.466G>T, XR_007067995.1:n.463G>T, NP_004801.1:p.Ala68Ser, NP_001278753.1:p.Ala68Ser, NP_001278757.1:p.Gly11Val, XP_047297563.1:p.Ala68Ser, XP_047297564.1:p.Ala42Ser, NP_001278754.1:p.Ala68Ser

Select item 142921942920.

rs1429219429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:39960109 (GRCh38)
22:40356113 (GRCh37)
Canonical SPDI:: NC_000022.11:39960108:G:C
Gene:: GRAP2 (Varview), LOC112268293 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39960109G>C, NC_000022.10:g.40356113G>C, NM_004810.4:c.225G>C, NM_004810.3:c.225G>C, NM_004810.2:c.225G>C, NM_001291824.2:c.225G>C, NM_001291824.1:c.225G>C, NM_001291826.2:c.9G>C, NM_001291826.1:c.9G>C, NM_001291828.2:c.55G>C, NM_001291828.1:c.55G>C, XM_047441607.1:c.225G>C, XM_047441608.1:c.147G>C, NM_001291825.1:c.225G>C, XR_007067996.1:n.489G>C, XR_007067995.1:n.486G>C, NP_004801.1:p.Lys75Asn, NP_001278753.1:p.Lys75Asn, NP_001278755.1:p.Lys3Asn, NP_001278757.1:p.Gly19Arg, XP_047297563.1:p.Lys75Asn, XP_047297564.1:p.Lys49Asn, NP_001278754.1:p.Lys75Asn

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