SNP Links for Protein (Select 336391093) - SNP

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Links from Protein

Items: 1 to 20 of 109

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Select item 14884518441.

rs1488451844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60618637 (GRCh38)
8:61531196 (GRCh37)
Canonical SPDI:: NC_000008.11:60618636:A:G
Gene:: RAB2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.60618637A>G, NC_000008.10:g.61531196A>G, NM_002865.3:c.532A>G, NM_002865.2:c.532A>G, NM_001242644.1:c.460A>G, NP_002856.1:p.Ile178Val, NP_001229573.1:p.Ile154Val

Select item 14795804942.

rs1479580494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60572089 (GRCh38)
8:61484648 (GRCh37)
Canonical SPDI:: NC_000008.11:60572088:G:A
Gene:: RAB2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.60572089G>A, NC_000008.10:g.61484648G>A, NM_002865.3:c.162G>A, NM_002865.2:c.162G>A, NM_001242644.1:c.90G>A

Select item 14741852963.

rs1474185296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:60572066 (GRCh38)
8:61484625 (GRCh37)
Canonical SPDI:: NC_000008.11:60572065:A:C
Gene:: RAB2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.60572066A>C, NC_000008.10:g.61484625A>C, NM_002865.3:c.139A>C, NM_002865.2:c.139A>C, NM_001242644.1:c.67A>C, NP_002856.1:p.Met47Leu, NP_001229573.1:p.Met23Leu

Select item 14689217914.

rs1468921791 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTT [Show Flanks]
Chromosome:: 8:60584208 (GRCh38)
8:61496768 (GRCh37)
Canonical SPDI:: NC_000008.11:60584208::TTTTTTT
Gene:: RAB2A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000008.11:g.60584208_60584209insTTTTTTT, NC_000008.10:g.61496767_61496768insTTTTTTT, NM_002865.3:c.187_188insTTTTTTT, NM_002865.2:c.187_188insTTTTTTT, NM_001242644.1:c.115_116insTTTTTTT, NP_002856.1:p.Ala63fs, NP_001229573.1:p.Ala39fs

Select item 14516148995.

rs1451614899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60584227 (GRCh38)
8:61496786 (GRCh37)
Canonical SPDI:: NC_000008.11:60584226:G:A
Gene:: RAB2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.60584227G>A, NC_000008.10:g.61496786G>A, NM_002865.3:c.206G>A, NM_002865.2:c.206G>A, NM_001242644.1:c.134G>A, NP_002856.1:p.Arg69His, NP_001229573.1:p.Arg45His

Select item 14509008286.

rs1450900828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60584215 (GRCh38)
8:61496774 (GRCh37)
Canonical SPDI:: NC_000008.11:60584214:A:G
Gene:: RAB2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.60584215A>G, NC_000008.10:g.61496774A>G, NM_002865.3:c.194A>G, NM_002865.2:c.194A>G, NM_001242644.1:c.122A>G, NP_002856.1:p.Gln65Arg, NP_001229573.1:p.Gln41Arg

Select item 14434497057.

rs1443449705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:60618645 (GRCh38)
8:61531204 (GRCh37)
Canonical SPDI:: NC_000008.11:60618644:T:C
Gene:: RAB2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.60618645T>C, NC_000008.10:g.61531204T>C, NM_002865.3:c.540T>C, NM_002865.2:c.540T>C, NM_001242644.1:c.468T>C

Select item 14350500808.

rs1435050080 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCGT,CCGTATCATTAAAA [Show Flanks]
Chromosome:: 8:60572064 (GRCh38)
8:61484624 (GRCh37)
Canonical SPDI:: NC_000008.11:60572064::CCGT,NC_000008.11:60572064::CCGTATCATTAAAA
Gene:: RAB2A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGT=0.00238/32 (ALFA)
CCGT=0.00109/2 (Korea1K)
HGVS:: NC_000008.11:g.60572064_60572065insCCGT, NC_000008.11:g.60572064_60572065insCCGTATCATTAAAA, NC_000008.10:g.61484623_61484624insCCGT, NC_000008.10:g.61484623_61484624insCCGTATCATTAAAA, NM_002865.3:c.137_138insCCGT, NM_002865.3:c.137_138insCCGTATCATTAAAA, NM_002865.2:c.137_138insCCGT, NM_002865.2:c.137_138insCCGTATCATTAAAA, NM_001242644.1:c.65_66insCCGT, NM_001242644.1:c.65_66insCCGTATCATTAAAA, NP_002856.1:p.Met47fs, NP_002856.1:p.Met47fs, NP_001229573.1:p.Met23fs, NP_001229573.1:p.Met23fs

Select item 14307726609.

rs1430772660 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAA [Show Flanks]
Chromosome:: 8:60572077 (GRCh38)
8:61484637 (GRCh37)
Canonical SPDI:: NC_000008.11:60572077::AAA
Gene:: RAB2A (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
HGVS:: NC_000008.11:g.60572077_60572078insAAA, NC_000008.10:g.61484636_61484637insAAA, NM_002865.3:c.150_151insAAA, NM_002865.2:c.150_151insAAA, NM_001242644.1:c.78_79insAAA, NP_002856.1:p.Asp51_Gly52insLys, NP_001229573.1:p.Asp27_Gly28insLys

Select item 142988964210.

rs1429889642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60591888 (GRCh38)
8:61504447 (GRCh37)
Canonical SPDI:: NC_000008.11:60591887:A:G
Gene:: RAB2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.60591888A>G, NC_000008.10:g.61504447A>G, NM_002865.3:c.393A>G, NM_002865.2:c.393A>G, NM_001242644.1:c.321A>G

Select item 142896145611.

rs1428961456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:60572080 (GRCh38)
8:61484639 (GRCh37)
Canonical SPDI:: NC_000008.11:60572079:T:A,NC_000008.11:60572079:T:C
Gene:: RAB2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000763/15 (ALFA)
C=0.000004/1 (TOPMED)
A=0.001092/2 (Korea1K)
A=0.001788/8 (Estonian)
HGVS:: NC_000008.11:g.60572080T>A, NC_000008.11:g.60572080T>C, NC_000008.10:g.61484639T>A, NC_000008.10:g.61484639T>C, NM_002865.3:c.153T>A, NM_002865.3:c.153T>C, NM_002865.2:c.153T>A, NM_002865.2:c.153T>C, NM_001242644.1:c.81T>A, NM_001242644.1:c.81T>C, NP_002856.1:p.Asp51Glu, NP_001229573.1:p.Asp27Glu

Select item 140707080712.

rs1407070807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60517213 (GRCh38)
8:61429772 (GRCh37)
Canonical SPDI:: NC_000008.11:60517212:G:A
Gene:: RAB2A (Varview), LOC124901949 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.60517213G>A, NC_000008.10:g.61429772G>A, NM_002865.3:c.6G>A, NM_002865.2:c.6G>A, NM_001242644.1:c.6G>A

Select item 140203852613.

rs1402038526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:60591960 (GRCh38)
8:61504519 (GRCh37)
Canonical SPDI:: NC_000008.11:60591959:T:C
Gene:: RAB2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.60591960T>C, NC_000008.10:g.61504519T>C, NM_002865.3:c.465T>C, NM_002865.2:c.465T>C, NM_001242644.1:c.393T>C

Select item 139514247214.

rs1395142472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:60572070 (GRCh38)
8:61484629 (GRCh37)
Canonical SPDI:: NC_000008.11:60572069:T:A
Gene:: RAB2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00208/28 (ALFA)
A=0.00109/2 (Korea1K)
HGVS:: NC_000008.11:g.60572070T>A, NC_000008.10:g.61484629T>A, NM_002865.3:c.143T>A, NM_002865.2:c.143T>A, NM_001242644.1:c.71T>A, NP_002856.1:p.Ile48Lys, NP_001229573.1:p.Ile24Lys

Select item 138925802915.

rs1389258029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:60517246 (GRCh38)
8:61429805 (GRCh37)
Canonical SPDI:: NC_000008.11:60517245:C:T
Gene:: RAB2A (Varview), LOC124901949 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.60517246C>T, NC_000008.10:g.61429805C>T, NM_002865.3:c.39C>T, NM_002865.2:c.39C>T, NM_001242644.1:c.39C>T

Select item 138271075916.

rs1382710759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60517245 (GRCh38)
8:61429804 (GRCh37)
Canonical SPDI:: NC_000008.11:60517244:G:A
Gene:: RAB2A (Varview), LOC124901949 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.60517245G>A, NC_000008.10:g.61429804G>A, NM_002865.3:c.38G>A, NM_002865.2:c.38G>A, NM_001242644.1:c.38G>A, NP_002856.1:p.Gly13Asp, NP_001229573.1:p.Gly13Asp

Select item 138196263817.

rs1381962638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60591909 (GRCh38)
8:61504468 (GRCh37)
Canonical SPDI:: NC_000008.11:60591908:A:G
Gene:: RAB2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.60591909A>G, NC_000008.10:g.61504468A>G, NM_002865.3:c.414A>G, NM_002865.2:c.414A>G, NM_001242644.1:c.342A>G

Select item 137864875218.

rs1378648752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60584290 (GRCh38)
8:61496849 (GRCh37)
Canonical SPDI:: NC_000008.11:60584289:G:A
Gene:: RAB2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.60584290G>A, NC_000008.10:g.61496849G>A, NM_002865.3:c.269G>A, NM_002865.2:c.269G>A, NM_001242644.1:c.197G>A, NP_002856.1:p.Arg90Gln, NP_001229573.1:p.Arg66Gln

Select item 136174916419.

rs1361749164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60584235 (GRCh38)
8:61496794 (GRCh37)
Canonical SPDI:: NC_000008.11:60584234:A:G
Gene:: RAB2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.60584235A>G, NC_000008.10:g.61496794A>G, NM_002865.3:c.214A>G, NM_002865.2:c.214A>G, NM_001242644.1:c.142A>G, NP_002856.1:p.Thr72Ala, NP_001229573.1:p.Thr48Ala

Select item 135239133420.

rs1352391334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60620702 (GRCh38)
8:61533261 (GRCh37)
Canonical SPDI:: NC_000008.11:60620701:A:G
Gene:: RAB2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.60620702A>G, NC_000008.10:g.61533261A>G, NM_002865.3:c.572A>G, NM_002865.2:c.572A>G, NM_001242644.1:c.500A>G, NP_002856.1:p.His191Arg, NP_001229573.1:p.His167Arg

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