SNP Links for Protein (Select 4503049) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 234

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Select item 14861016531.

rs1486101653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:105478786 (GRCh38)
14:105945123 (GRCh37)
Canonical SPDI:: NC_000014.9:105478785:G:A,NC_000014.9:105478785:G:C
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.001734/5 (KOREAN)
HGVS:: NC_000014.9:g.105478786G>A, NC_000014.9:g.105478786G>C, NC_000014.8:g.105945123G>A, NC_000014.8:g.105945123G>C, NW_004166863.1:g.141953G>A, NW_004166863.1:g.141953G>C, NM_001312.4:c.252G>A, NM_001312.4:c.252G>C, NM_001312.3:c.252G>A, NM_001312.3:c.252G>C, NM_001270837.2:c.474G>A, NM_001270837.2:c.474G>C, NM_001270837.1:c.474G>A, NM_001270837.1:c.474G>C, NR_073085.2:n.568G>A, NR_073085.2:n.568G>C, NR_073085.1:n.565G>A, NR_073085.1:n.565G>C, NR_073082.2:n.309G>A, NR_073082.2:n.309G>C, NR_073082.1:n.316G>A, NR_073082.1:n.316G>C, NR_073083.2:n.199G>A, NR_073083.2:n.199G>C, NR_073083.1:n.245G>A, NR_073083.1:n.245G>C, NR_073084.1:n.1093G>A, NR_073084.1:n.1093G>C

Select item 14827988232.

rs1482798823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:105478849 (GRCh38)
14:105945186 (GRCh37)
Canonical SPDI:: NC_000014.9:105478848:C:T
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.105478849C>T, NC_000014.8:g.105945186C>T, NW_004166863.1:g.142016C>T, NM_001312.4:c.315C>T, NM_001312.3:c.315C>T, NM_001270837.2:c.537C>T, NM_001270837.1:c.537C>T, NR_073085.2:n.631C>T, NR_073085.1:n.628C>T, NR_073082.2:n.372C>T, NR_073082.1:n.379C>T, NR_073083.2:n.262C>T, NR_073083.1:n.308C>T, NR_073084.1:n.1156C>T

Select item 14693710513.

rs1469371051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:105478782 (GRCh38)
14:105945119 (GRCh37)
Canonical SPDI:: NC_000014.9:105478781:A:G
Gene:: CRIP2 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105478782A>G, NC_000014.8:g.105945119A>G, NW_004166863.1:g.141949A>G, NM_001312.4:c.248A>G, NM_001312.3:c.248A>G, NM_001270837.2:c.470A>G, NM_001270837.1:c.470A>G, NR_073085.2:n.564A>G, NR_073085.1:n.561A>G, NR_073082.2:n.305A>G, NR_073082.1:n.312A>G, NR_073083.2:n.195A>G, NR_073083.1:n.241A>G, NR_073084.1:n.1089A>G, NP_001303.1:p.Glu83Gly, NP_001257766.1:p.Glu157Gly

Select item 14689565704.

rs1468956570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:105478979 (GRCh38)
14:105945316 (GRCh37)
Canonical SPDI:: NC_000014.9:105478978:C:T
Gene:: CRIP2 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.00004/7 (GnomAD_exomes)
HGVS:: NC_000014.9:g.105478979C>T, NC_000014.8:g.105945316C>T, NW_004166863.1:g.142146C>T, NM_001312.4:c.338C>T, NM_001312.3:c.338C>T, NM_001270837.2:c.560C>T, NM_001270837.1:c.560C>T, NR_073085.2:n.654C>T, NR_073085.1:n.651C>T, NR_073082.2:n.395C>T, NR_073082.1:n.402C>T, NR_073083.2:n.285C>T, NR_073083.1:n.331C>T, NR_073081.2:n.181C>T, NR_073081.1:n.227C>T, NR_073084.1:n.1179C>T, NP_001303.1:p.Ala113Val, NP_001257766.1:p.Ala187Val

Select item 14670548225.

rs1467054822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:105474880 (GRCh38)
14:105941217 (GRCh37)
Canonical SPDI:: NC_000014.9:105474879:C:G
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.105474880C>G, NC_000014.8:g.105941217C>G, NW_004166863.1:g.138047C>G, NM_001312.4:c.18C>G, NM_001312.3:c.18C>G, NR_073083.2:n.60C>G, NR_073083.1:n.106C>G, NR_073081.2:n.60C>G, NR_073081.1:n.106C>G, NM_001270841.2:c.18C>G, NM_001270841.1:c.18C>G

Select item 14633858476.

rs1463385847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:105479208 (GRCh38)
14:105945545 (GRCh37)
Canonical SPDI:: NC_000014.9:105479207:G:A,NC_000014.9:105479207:G:C
Gene:: CRIP2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105479208G>A, NC_000014.9:g.105479208G>C, NC_000014.8:g.105945545G>A, NC_000014.8:g.105945545G>C, NW_004166863.1:g.142375G>A, NW_004166863.1:g.142375G>C, NM_001312.4:c.490G>A, NM_001312.4:c.490G>C, NM_001312.3:c.490G>A, NM_001312.3:c.490G>C, NM_001270837.2:c.712G>A, NM_001270837.2:c.712G>C, NM_001270837.1:c.712G>A, NM_001270837.1:c.712G>C, NR_073085.2:n.806G>A, NR_073085.2:n.806G>C, NR_073085.1:n.803G>A, NR_073085.1:n.803G>C, NR_073082.2:n.547G>A, NR_073082.2:n.547G>C, NR_073082.1:n.554G>A, NR_073082.1:n.554G>C, NR_073083.2:n.437G>A, NR_073083.2:n.437G>C, NR_073083.1:n.483G>A, NR_073083.1:n.483G>C, NR_073081.2:n.333G>A, NR_073081.2:n.333G>C, NR_073081.1:n.379G>A, NR_073081.1:n.379G>C, NM_001270841.2:c.127G>A, NM_001270841.2:c.127G>C, NM_001270841.1:c.127G>A, NM_001270841.1:c.127G>C, NR_073084.1:n.1331G>A, NR_073084.1:n.1331G>C, NP_001303.1:p.Gly164Arg, NP_001303.1:p.Gly164Arg, NP_001257766.1:p.Gly238Arg, NP_001257766.1:p.Gly238Arg, NP_001257770.1:p.Gly43Arg, NP_001257770.1:p.Gly43Arg

Select item 14431101167.

rs1443110116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:105478760 (GRCh38)
14:105945097 (GRCh37)
Canonical SPDI:: NC_000014.9:105478759:A:G
Gene:: CRIP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.105478760A>G, NC_000014.8:g.105945097A>G, NW_004166863.1:g.141927A>G, NM_001312.4:c.226A>G, NM_001312.3:c.226A>G, NM_001270837.2:c.448A>G, NM_001270837.1:c.448A>G, NR_073085.2:n.542A>G, NR_073085.1:n.539A>G, NR_073082.2:n.283A>G, NR_073082.1:n.290A>G, NR_073083.2:n.173A>G, NR_073083.1:n.219A>G, NR_073084.1:n.1067A>G, NP_001303.1:p.Ile76Val, NP_001257766.1:p.Ile150Val

Select item 14410848168.

rs1441084816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:105478475 (GRCh38)
14:105944812 (GRCh37)
Canonical SPDI:: NC_000014.9:105478474:A:G
Gene:: CRIP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.105478475A>G, NC_000014.8:g.105944812A>G, NW_004166863.1:g.141642A>G, NM_001312.4:c.164A>G, NM_001312.3:c.164A>G, NM_001270837.2:c.386A>G, NM_001270837.1:c.386A>G, NR_073085.2:n.480A>G, NR_073085.1:n.477A>G, NR_073082.2:n.221A>G, NR_073082.1:n.228A>G, NR_073083.2:n.111A>G, NR_073083.1:n.157A>G, NR_073084.1:n.1005A>G, NP_001303.1:p.Lys55Arg, NP_001257766.1:p.Lys129Arg

Select item 14368782199.

rs1436878219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:105479642 (GRCh38)
14:105945979 (GRCh37)
Canonical SPDI:: NC_000014.9:105479641:G:A
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105479642G>A, NC_000014.8:g.105945979G>A, NW_004166863.1:g.142809G>A, NM_001312.4:c.616G>A, NM_001312.3:c.616G>A, NM_001270837.2:c.838G>A, NM_001270837.1:c.838G>A, NR_073085.2:n.932G>A, NR_073085.1:n.929G>A, NR_073082.2:n.673G>A, NR_073082.1:n.680G>A, NR_073083.2:n.563G>A, NR_073083.1:n.609G>A, NR_073081.2:n.459G>A, NR_073081.1:n.505G>A, NM_001270841.2:c.253G>A, NM_001270841.1:c.253G>A, NR_073084.1:n.1457G>A, NP_001303.1:p.Val206Ile, NP_001257766.1:p.Val280Ile, NP_001257770.1:p.Val85Ile

Select item 143606019710.

rs1436060197 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:105478811 (GRCh38)
14:105945149 (GRCh37)
Canonical SPDI:: NC_000014.9:105478811:T:TT
Gene:: CRIP2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.105478812dup, NC_000014.8:g.105945149dup, NW_004166863.1:g.141979dup, NM_001312.4:c.278dup, NM_001312.3:c.278dup, NM_001270837.2:c.500dup, NM_001270837.1:c.500dup, NR_073085.2:n.594dup, NR_073085.1:n.591dup, NR_073082.2:n.335dup, NR_073082.1:n.342dup, NR_073083.2:n.225dup, NR_073083.1:n.271dup, NR_073084.1:n.1119dup, NP_001303.1:p.Ala95fs, NP_001257766.1:p.Ala169fs

Select item 143243362911.

rs1432433629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:105478498 (GRCh38)
14:105944835 (GRCh37)
Canonical SPDI:: NC_000014.9:105478497:G:A,NC_000014.9:105478497:G:C
Gene:: CRIP2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105478498G>A, NC_000014.9:g.105478498G>C, NC_000014.8:g.105944835G>A, NC_000014.8:g.105944835G>C, NW_004166863.1:g.141665G>A, NW_004166863.1:g.141665G>C, NM_001312.4:c.187G>A, NM_001312.4:c.187G>C, NM_001312.3:c.187G>A, NM_001312.3:c.187G>C, NM_001270837.2:c.409G>A, NM_001270837.2:c.409G>C, NM_001270837.1:c.409G>A, NM_001270837.1:c.409G>C, NR_073085.2:n.503G>A, NR_073085.2:n.503G>C, NR_073085.1:n.500G>A, NR_073085.1:n.500G>C, NR_073082.2:n.244G>A, NR_073082.2:n.244G>C, NR_073082.1:n.251G>A, NR_073082.1:n.251G>C, NR_073083.2:n.134G>A, NR_073083.2:n.134G>C, NR_073083.1:n.180G>A, NR_073083.1:n.180G>C, NR_073084.1:n.1028G>A, NR_073084.1:n.1028G>C, NP_001303.1:p.Gly63Arg, NP_001303.1:p.Gly63Arg, NP_001257766.1:p.Gly137Arg, NP_001257766.1:p.Gly137Arg

Select item 142878397212.

rs1428783972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:105478835 (GRCh38)
14:105945172 (GRCh37)
Canonical SPDI:: NC_000014.9:105478834:C:A,NC_000014.9:105478834:C:T
Gene:: CRIP2 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.105478835C>A, NC_000014.9:g.105478835C>T, NC_000014.8:g.105945172C>A, NC_000014.8:g.105945172C>T, NW_004166863.1:g.142002C>A, NW_004166863.1:g.142002C>T, NM_001312.4:c.301C>A, NM_001312.4:c.301C>T, NM_001312.3:c.301C>A, NM_001312.3:c.301C>T, NM_001270837.2:c.523C>A, NM_001270837.2:c.523C>T, NM_001270837.1:c.523C>A, NM_001270837.1:c.523C>T, NR_073085.2:n.617C>A, NR_073085.2:n.617C>T, NR_073085.1:n.614C>A, NR_073085.1:n.614C>T, NR_073082.2:n.358C>A, NR_073082.2:n.358C>T, NR_073082.1:n.365C>A, NR_073082.1:n.365C>T, NR_073083.2:n.248C>A, NR_073083.2:n.248C>T, NR_073083.1:n.294C>A, NR_073083.1:n.294C>T, NR_073084.1:n.1142C>A, NR_073084.1:n.1142C>T, NP_001303.1:p.Arg101Trp, NP_001257766.1:p.Arg175Trp

Select item 142094132913.

rs1420941329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:105479488 (GRCh38)
14:105945825 (GRCh37)
Canonical SPDI:: NC_000014.9:105479487:C:G,NC_000014.9:105479487:C:T
Gene:: CRIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105479488C>G, NC_000014.9:g.105479488C>T, NC_000014.8:g.105945825C>G, NC_000014.8:g.105945825C>T, NW_004166863.1:g.142655C>G, NW_004166863.1:g.142655C>T, NM_001312.4:c.554C>G, NM_001312.4:c.554C>T, NM_001312.3:c.554C>G, NM_001312.3:c.554C>T, NM_001270837.2:c.776C>G, NM_001270837.2:c.776C>T, NM_001270837.1:c.776C>G, NM_001270837.1:c.776C>T, NR_073085.2:n.870C>G, NR_073085.2:n.870C>T, NR_073085.1:n.867C>G, NR_073085.1:n.867C>T, NR_073082.2:n.611C>G, NR_073082.2:n.611C>T, NR_073082.1:n.618C>G, NR_073082.1:n.618C>T, NR_073083.2:n.501C>G, NR_073083.2:n.501C>T, NR_073083.1:n.547C>G, NR_073083.1:n.547C>T, NR_073081.2:n.397C>G, NR_073081.2:n.397C>T, NR_073081.1:n.443C>G, NR_073081.1:n.443C>T, NM_001270841.2:c.191C>G, NM_001270841.2:c.191C>T, NM_001270841.1:c.191C>G, NM_001270841.1:c.191C>T, NR_073084.1:n.1395C>G, NR_073084.1:n.1395C>T, NP_001303.1:p.Pro185Arg, NP_001303.1:p.Pro185Leu, NP_001257766.1:p.Pro259Arg, NP_001257766.1:p.Pro259Leu, NP_001257770.1:p.Pro64Arg, NP_001257770.1:p.Pro64Leu

Select item 141585372114.

rs1415853721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:105474885 (GRCh38)
14:105941222 (GRCh37)
Canonical SPDI:: NC_000014.9:105474884:G:A
Gene:: CRIP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105474885G>A, NC_000014.8:g.105941222G>A, NW_004166863.1:g.138052G>A, NM_001312.4:c.23G>A, NM_001312.3:c.23G>A, NR_073083.2:n.65G>A, NR_073083.1:n.111G>A, NR_073081.2:n.65G>A, NR_073081.1:n.111G>A, NM_001270841.2:c.23G>A, NM_001270841.1:c.23G>A, NP_001303.1:p.Cys8Tyr, NP_001257770.1:p.Cys8Tyr

Select item 140963698015.

rs1409636980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:105479619 (GRCh38)
14:105945956 (GRCh37)
Canonical SPDI:: NC_000014.9:105479618:A:G
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.105479619A>G, NC_000014.8:g.105945956A>G, NW_004166863.1:g.142786A>G, NM_001312.4:c.593A>G, NM_001312.3:c.593A>G, NM_001270837.2:c.815A>G, NM_001270837.1:c.815A>G, NR_073085.2:n.909A>G, NR_073085.1:n.906A>G, NR_073082.2:n.650A>G, NR_073082.1:n.657A>G, NR_073083.2:n.540A>G, NR_073083.1:n.586A>G, NR_073081.2:n.436A>G, NR_073081.1:n.482A>G, NM_001270841.2:c.230A>G, NM_001270841.1:c.230A>G, NR_073084.1:n.1434A>G, NP_001303.1:p.Tyr198Cys, NP_001257766.1:p.Tyr272Cys, NP_001257770.1:p.Tyr77Cys

Select item 140430313316.

rs1404303133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:105478355 (GRCh38)
14:105944692 (GRCh37)
Canonical SPDI:: NC_000014.9:105478354:G:A,NC_000014.9:105478354:G:T
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.105478355G>A, NC_000014.9:g.105478355G>T, NC_000014.8:g.105944692G>A, NC_000014.8:g.105944692G>T, NW_004166863.1:g.141522G>A, NW_004166863.1:g.141522G>T, NM_001312.4:c.133G>A, NM_001312.4:c.133G>T, NM_001312.3:c.133G>A, NM_001312.3:c.133G>T, NM_001270837.2:c.355G>A, NM_001270837.2:c.355G>T, NM_001270837.1:c.355G>A, NM_001270837.1:c.355G>T, NR_073085.2:n.449G>A, NR_073085.2:n.449G>T, NR_073085.1:n.446G>A, NR_073085.1:n.446G>T, NR_073082.2:n.190G>A, NR_073082.2:n.190G>T, NR_073082.1:n.197G>A, NR_073082.1:n.197G>T, NR_073081.2:n.175G>A, NR_073081.2:n.175G>T, NR_073081.1:n.221G>A, NR_073081.1:n.221G>T, NR_073084.1:n.974G>A, NR_073084.1:n.974G>T, NP_001303.1:p.Ala45Thr, NP_001303.1:p.Ala45Ser, NP_001257766.1:p.Ala119Thr, NP_001257766.1:p.Ala119Ser

Select item 140217462417.

rs1402174624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:105479047 (GRCh38)
14:105945384 (GRCh37)
Canonical SPDI:: NC_000014.9:105479046:G:C
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.105479047G>C, NC_000014.8:g.105945384G>C, NW_004166863.1:g.142214G>C, NM_001312.4:c.406G>C, NM_001312.3:c.406G>C, NM_001270837.2:c.628G>C, NM_001270837.1:c.628G>C, NR_073085.2:n.722G>C, NR_073085.1:n.719G>C, NR_073082.2:n.463G>C, NR_073082.1:n.470G>C, NR_073083.2:n.353G>C, NR_073083.1:n.399G>C, NR_073081.2:n.249G>C, NR_073081.1:n.295G>C, NR_073084.1:n.1247G>C, NP_001303.1:p.Ala136Pro, NP_001257766.1:p.Ala210Pro

Select item 139586675018.

rs1395866750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:105478861 (GRCh38)
14:105945198 (GRCh37)
Canonical SPDI:: NC_000014.9:105478860:G:A,NC_000014.9:105478860:G:C,NC_000014.9:105478860:G:T
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105478861G>A, NC_000014.9:g.105478861G>C, NC_000014.9:g.105478861G>T, NC_000014.8:g.105945198G>A, NC_000014.8:g.105945198G>C, NC_000014.8:g.105945198G>T, NW_004166863.1:g.142028G>A, NW_004166863.1:g.142028G>C, NW_004166863.1:g.142028G>T, NM_001312.4:c.327G>A, NM_001312.4:c.327G>C, NM_001312.4:c.327G>T, NM_001312.3:c.327G>A, NM_001312.3:c.327G>C, NM_001312.3:c.327G>T, NM_001270837.2:c.549G>A, NM_001270837.2:c.549G>C, NM_001270837.2:c.549G>T, NM_001270837.1:c.549G>A, NM_001270837.1:c.549G>C, NM_001270837.1:c.549G>T, NR_073085.2:n.643G>A, NR_073085.2:n.643G>C, NR_073085.2:n.643G>T, NR_073085.1:n.640G>A, NR_073085.1:n.640G>C, NR_073085.1:n.640G>T, NR_073082.2:n.384G>A, NR_073082.2:n.384G>C, NR_073082.2:n.384G>T, NR_073082.1:n.391G>A, NR_073082.1:n.391G>C, NR_073082.1:n.391G>T, NR_073083.2:n.274G>A, NR_073083.2:n.274G>C, NR_073083.2:n.274G>T, NR_073083.1:n.320G>A, NR_073083.1:n.320G>C, NR_073083.1:n.320G>T, NR_073084.1:n.1168G>A, NR_073084.1:n.1168G>C, NR_073084.1:n.1168G>T

Select item 139544804919.

rs1395448049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:105474876 (GRCh38)
14:105941213 (GRCh37)
Canonical SPDI:: NC_000014.9:105474875:G:A
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.105474876G>A, NC_000014.8:g.105941213G>A, NW_004166863.1:g.138043G>A, NM_001312.4:c.14G>A, NM_001312.3:c.14G>A, NR_073083.2:n.56G>A, NR_073083.1:n.102G>A, NR_073081.2:n.56G>A, NR_073081.1:n.102G>A, NM_001270841.2:c.14G>A, NM_001270841.1:c.14G>A, NP_001303.1:p.Cys5Tyr, NP_001257770.1:p.Cys5Tyr

Select item 139410093120.

rs1394100931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:105479204 (GRCh38)
14:105945541 (GRCh37)
Canonical SPDI:: NC_000014.9:105479203:C:T
Gene:: CRIP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000014.9:g.105479204C>T, NC_000014.8:g.105945541C>T, NW_004166863.1:g.142371C>T, NM_001312.4:c.486C>T, NM_001312.3:c.486C>T, NM_001270837.2:c.708C>T, NM_001270837.1:c.708C>T, NR_073085.2:n.802C>T, NR_073085.1:n.799C>T, NR_073082.2:n.543C>T, NR_073082.1:n.550C>T, NR_073083.2:n.433C>T, NR_073083.1:n.479C>T, NR_073081.2:n.329C>T, NR_073081.1:n.375C>T, NM_001270841.2:c.123C>T, NM_001270841.1:c.123C>T, NR_073084.1:n.1327C>T

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