SNP Links for Protein (Select 767916830) - SNP

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Links from Protein

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Select item 14905219751.

rs1490521975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:112738824 (GRCh38)
2:113496401 (GRCh37)
Canonical SPDI:: NC_000002.12:112738823:T:G
Gene:: CKAP2L (Varview), NT5DC4 (Varview)
Functional Consequence:: terminator_codon_variant,intron_variant,stop_lost,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112738824T>G, NC_000002.11:g.113496401T>G, NG_041820.1:g.30854A>C, NM_152515.5:c.2237A>C, NM_152515.4:c.2237A>C, NM_152515.3:c.2237A>C, NM_001304361.2:c.1742A>C, NM_001304361.1:c.1742A>C, NR_130712.2:n.1490A>C, NR_130712.1:n.1558A>C, XM_011510666.3:c.1742A>C, XM_011510666.2:c.1742A>C, XM_011510666.1:c.1742A>C, NP_689728.3:p.Ter746Ser, NP_001291290.1:p.Ter581Ser, XP_011508968.1:p.Ter581Ser

Select item 14873322092.

rs1487332209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112740883 (GRCh38)
2:113498460 (GRCh37)
Canonical SPDI:: NC_000002.12:112740882:G:A
Gene:: CKAP2L (Varview), NT5DC4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_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_000002.12:g.112740883G>A, NC_000002.11:g.113498460G>A, NG_041820.1:g.28795C>T, NM_152515.5:c.1947C>T, NM_152515.4:c.1947C>T, NM_152515.3:c.1947C>T, NM_001304361.2:c.1452C>T, NM_001304361.1:c.1452C>T, NR_130712.2:n.1200C>T, NR_130712.1:n.1268C>T, XM_011510666.3:c.1452C>T, XM_011510666.2:c.1452C>T, XM_011510666.1:c.1452C>T

Select item 14858635473.

rs1485863547 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:112738950 (GRCh38)
2:113496527 (GRCh37)
Canonical SPDI:: NC_000002.12:112738949:A:
Gene:: CKAP2L (Varview), NT5DC4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112738950del, NC_000002.11:g.113496527del, NG_041820.1:g.30728del, NM_152515.5:c.2111del, NM_152515.4:c.2111del, NM_152515.3:c.2111del, NM_001304361.2:c.1616del, NM_001304361.1:c.1616del, NR_130712.2:n.1364del, NR_130712.1:n.1432del, XM_011510666.3:c.1616del, XM_011510666.2:c.1616del, XM_011510666.1:c.1616del, XR_002959268.2:n.1815del, XM_024452804.2:c.*14del, XM_024452804.1:c.*14del, NM_001393655.1:c.*14del, NP_689728.3:p.Leu704fs, NP_001291290.1:p.Leu539fs, XP_011508968.1:p.Leu539fs

Select item 14855912454.

rs1485591245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:112746479 (GRCh38)
2:113504056 (GRCh37)
Canonical SPDI:: NC_000002.12:112746478:T:G
Gene:: CKAP2L (Varview)
Functional Consequence:: non_coding_transcript_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=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112746479T>G, NC_000002.11:g.113504056T>G, NG_041820.1:g.23199A>C, NM_152515.5:c.1699A>C, NM_152515.4:c.1699A>C, NM_152515.3:c.1699A>C, NM_001304361.2:c.1204A>C, NM_001304361.1:c.1204A>C, NR_130712.2:n.952A>C, NR_130712.1:n.1020A>C, XM_011510666.3:c.1204A>C, XM_011510666.2:c.1204A>C, XM_011510666.1:c.1204A>C, NP_689728.3:p.Ser567Arg, NP_001291290.1:p.Ser402Arg, XP_011508968.1:p.Ser402Arg

Select item 14821170135.

rs1482117013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:112756379 (GRCh38)
2:113513956 (GRCh37)
Canonical SPDI:: NC_000002.12:112756378:G:C
Gene:: CKAP2L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112756379G>C, NC_000002.11:g.113513956G>C, NG_041820.1:g.13299C>G, NM_152515.5:c.992C>G, NM_152515.4:c.992C>G, NM_152515.3:c.992C>G, NM_001304361.2:c.497C>G, NM_001304361.1:c.497C>G, XM_011510666.3:c.497C>G, XM_011510666.2:c.497C>G, XM_011510666.1:c.497C>G, NP_689728.3:p.Thr331Ser, NP_001291290.1:p.Thr166Ser, XP_011508968.1:p.Thr166Ser

Select item 14817036406.

rs1481703640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:112756083 (GRCh38)
2:113513660 (GRCh37)
Canonical SPDI:: NC_000002.12:112756082:G:C,NC_000002.12:112756082:G:T
Gene:: CKAP2L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0.000043/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112756083G>C, NC_000002.12:g.112756083G>T, NC_000002.11:g.113513660G>C, NC_000002.11:g.113513660G>T, NG_041820.1:g.13595C>G, NG_041820.1:g.13595C>A, NM_152515.5:c.1288C>G, NM_152515.5:c.1288C>A, NM_152515.4:c.1288C>G, NM_152515.4:c.1288C>A, NM_152515.3:c.1288C>G, NM_152515.3:c.1288C>A, NM_001304361.2:c.793C>G, NM_001304361.2:c.793C>A, NM_001304361.1:c.793C>G, NM_001304361.1:c.793C>A, NR_130712.2:n.541C>G, NR_130712.2:n.541C>A, NR_130712.1:n.609C>G, NR_130712.1:n.609C>A, XM_011510666.3:c.793C>G, XM_011510666.3:c.793C>A, XM_011510666.2:c.793C>G, XM_011510666.2:c.793C>A, XM_011510666.1:c.793C>G, XM_011510666.1:c.793C>A, NP_689728.3:p.His430Asp, NP_689728.3:p.His430Asn, NP_001291290.1:p.His265Asp, NP_001291290.1:p.His265Asn, XP_011508968.1:p.His265Asp, XP_011508968.1:p.His265Asn

Select item 14808310167.

rs1480831016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:112738961 (GRCh38)
2:113496538 (GRCh37)
Canonical SPDI:: NC_000002.12:112738960:G:C
Gene:: CKAP2L (Varview), NT5DC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.112738961G>C, NC_000002.11:g.113496538G>C, NG_041820.1:g.30717C>G, NM_152515.5:c.2100C>G, NM_152515.4:c.2100C>G, NM_152515.3:c.2100C>G, NM_001304361.2:c.1605C>G, NM_001304361.1:c.1605C>G, NR_130712.2:n.1353C>G, NR_130712.1:n.1421C>G, XM_011510666.3:c.1605C>G, XM_011510666.2:c.1605C>G, XM_011510666.1:c.1605C>G, XR_002959268.2:n.1826G>C, XM_024452804.2:c.*25G>C, XM_024452804.1:c.*25G>C, NM_001393655.1:c.*25G>C, NP_689728.3:p.Tyr700Ter, NP_001291290.1:p.Tyr535Ter, XP_011508968.1:p.Tyr535Ter

Select item 14807141488.

rs1480714148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112752273 (GRCh38)
2:113509850 (GRCh37)
Canonical SPDI:: NC_000002.12:112752272:G:A
Gene:: CKAP2L (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.112752273G>A, NC_000002.11:g.113509850G>A, NG_041820.1:g.17405C>T, NM_152515.5:c.1596C>T, NM_152515.4:c.1596C>T, NM_152515.3:c.1596C>T, NM_001304361.2:c.1101C>T, NM_001304361.1:c.1101C>T, NR_130712.2:n.849C>T, NR_130712.1:n.917C>T, XM_011510666.3:c.1101C>T, XM_011510666.2:c.1101C>T, XM_011510666.1:c.1101C>T

Select item 14763445619.

rs1476344561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112740895 (GRCh38)
2:113498472 (GRCh37)
Canonical SPDI:: NC_000002.12:112740894:G:A
Gene:: CKAP2L (Varview), NT5DC4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112740895G>A, NC_000002.11:g.113498472G>A, NG_041820.1:g.28783C>T, NM_152515.5:c.1935C>T, NM_152515.4:c.1935C>T, NM_152515.3:c.1935C>T, NM_001304361.2:c.1440C>T, NM_001304361.1:c.1440C>T, NR_130712.2:n.1188C>T, NR_130712.1:n.1256C>T, XM_011510666.3:c.1440C>T, XM_011510666.2:c.1440C>T, XM_011510666.1:c.1440C>T

Select item 147431502010.

rs1474315020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:112756438 (GRCh38)
2:113514015 (GRCh37)
Canonical SPDI:: NC_000002.12:112756437:T:C
Gene:: CKAP2L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112756438T>C, NC_000002.11:g.113514015T>C, NG_041820.1:g.13240A>G, NM_152515.5:c.933A>G, NM_152515.4:c.933A>G, NM_152515.3:c.933A>G, NM_001304361.2:c.438A>G, NM_001304361.1:c.438A>G, XM_011510666.3:c.438A>G, XM_011510666.2:c.438A>G, XM_011510666.1:c.438A>G

Select item 147320289511.

rs1473202895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112756747 (GRCh38)
2:113514324 (GRCh37)
Canonical SPDI:: NC_000002.12:112756746:C:T
Gene:: CKAP2L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.112756747C>T, NC_000002.11:g.113514324C>T, NG_041820.1:g.12931G>A, NM_152515.5:c.624G>A, NM_152515.4:c.624G>A, NM_152515.3:c.624G>A, NM_001304361.2:c.129G>A, NM_001304361.1:c.129G>A, XM_011510666.3:c.129G>A, XM_011510666.2:c.129G>A, XM_011510666.1:c.129G>A

Select item 147096415112.

rs1470964151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:112756021 (GRCh38)
2:113513598 (GRCh37)
Canonical SPDI:: NC_000002.12:112756020:T:A,NC_000002.12:112756020:T:C
Gene:: CKAP2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.112756021T>A, NC_000002.12:g.112756021T>C, NC_000002.11:g.113513598T>A, NC_000002.11:g.113513598T>C, NG_041820.1:g.13657A>T, NG_041820.1:g.13657A>G, NM_152515.5:c.1350A>T, NM_152515.5:c.1350A>G, NM_152515.4:c.1350A>T, NM_152515.4:c.1350A>G, NM_152515.3:c.1350A>T, NM_152515.3:c.1350A>G, NM_001304361.2:c.855A>T, NM_001304361.2:c.855A>G, NM_001304361.1:c.855A>T, NM_001304361.1:c.855A>G, NR_130712.2:n.603A>T, NR_130712.2:n.603A>G, NR_130712.1:n.671A>T, NR_130712.1:n.671A>G, XM_011510666.3:c.855A>T, XM_011510666.3:c.855A>G, XM_011510666.2:c.855A>T, XM_011510666.2:c.855A>G, XM_011510666.1:c.855A>T, XM_011510666.1:c.855A>G, NP_689728.3:p.Gln450His, NP_001291290.1:p.Gln285His, XP_011508968.1:p.Gln285His

Select item 147082680613.

rs1470826806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:112756005 (GRCh38)
2:113513582 (GRCh37)
Canonical SPDI:: NC_000002.12:112756004:T:C
Gene:: CKAP2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.112756005T>C, NC_000002.11:g.113513582T>C, NG_041820.1:g.13673A>G, NM_152515.5:c.1366A>G, NM_152515.4:c.1366A>G, NM_152515.3:c.1366A>G, NM_001304361.2:c.871A>G, NM_001304361.1:c.871A>G, NR_130712.2:n.619A>G, NR_130712.1:n.687A>G, XM_011510666.3:c.871A>G, XM_011510666.2:c.871A>G, XM_011510666.1:c.871A>G, NP_689728.3:p.Lys456Glu, NP_001291290.1:p.Lys291Glu, XP_011508968.1:p.Lys291Glu

Select item 146875014014.

rs1468750140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:112756321 (GRCh38)
2:113513898 (GRCh37)
Canonical SPDI:: NC_000002.12:112756320:G:A,NC_000002.12:112756320:G:T
Gene:: CKAP2L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112756321G>A, NC_000002.12:g.112756321G>T, NC_000002.11:g.113513898G>A, NC_000002.11:g.113513898G>T, NG_041820.1:g.13357C>T, NG_041820.1:g.13357C>A, NM_152515.5:c.1050C>T, NM_152515.5:c.1050C>A, NM_152515.4:c.1050C>T, NM_152515.4:c.1050C>A, NM_152515.3:c.1050C>T, NM_152515.3:c.1050C>A, NM_001304361.2:c.555C>T, NM_001304361.2:c.555C>A, NM_001304361.1:c.555C>T, NM_001304361.1:c.555C>A, XM_011510666.3:c.555C>T, XM_011510666.3:c.555C>A, XM_011510666.2:c.555C>T, XM_011510666.2:c.555C>A, XM_011510666.1:c.555C>T, XM_011510666.1:c.555C>A, NP_689728.3:p.Asn350Lys, NP_001291290.1:p.Asn185Lys, XP_011508968.1:p.Asn185Lys

Select item 146475617715.

rs1464756177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:112756090 (GRCh38)
2:113513667 (GRCh37)
Canonical SPDI:: NC_000002.12:112756089:G:A,NC_000002.12:112756089:G:T
Gene:: CKAP2L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_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_000002.12:g.112756090G>A, NC_000002.12:g.112756090G>T, NC_000002.11:g.113513667G>A, NC_000002.11:g.113513667G>T, NG_041820.1:g.13588C>T, NG_041820.1:g.13588C>A, NM_152515.5:c.1281C>T, NM_152515.5:c.1281C>A, NM_152515.4:c.1281C>T, NM_152515.4:c.1281C>A, NM_152515.3:c.1281C>T, NM_152515.3:c.1281C>A, NM_001304361.2:c.786C>T, NM_001304361.2:c.786C>A, NM_001304361.1:c.786C>T, NM_001304361.1:c.786C>A, NR_130712.2:n.534C>T, NR_130712.2:n.534C>A, NR_130712.1:n.602C>T, NR_130712.1:n.602C>A, XM_011510666.3:c.786C>T, XM_011510666.3:c.786C>A, XM_011510666.2:c.786C>T, XM_011510666.2:c.786C>A, XM_011510666.1:c.786C>T, XM_011510666.1:c.786C>A

Select item 146462698616.

rs1464626986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112756662 (GRCh38)
2:113514239 (GRCh37)
Canonical SPDI:: NC_000002.12:112756661:G:A
Gene:: CKAP2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112756662G>A, NC_000002.11:g.113514239G>A, NG_041820.1:g.13016C>T, NM_152515.5:c.709C>T, NM_152515.4:c.709C>T, NM_152515.3:c.709C>T, NM_001304361.2:c.214C>T, NM_001304361.1:c.214C>T, XM_011510666.3:c.214C>T, XM_011510666.2:c.214C>T, XM_011510666.1:c.214C>T

Select item 146379908317.

rs1463799083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112756436 (GRCh38)
2:113514013 (GRCh37)
Canonical SPDI:: NC_000002.12:112756435:C:T
Gene:: CKAP2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112756436C>T, NC_000002.11:g.113514013C>T, NG_041820.1:g.13242G>A, NM_152515.5:c.935G>A, NM_152515.4:c.935G>A, NM_152515.3:c.935G>A, NM_001304361.2:c.440G>A, NM_001304361.1:c.440G>A, XM_011510666.3:c.440G>A, XM_011510666.2:c.440G>A, XM_011510666.1:c.440G>A, NP_689728.3:p.Arg312Lys, NP_001291290.1:p.Arg147Lys, XP_011508968.1:p.Arg147Lys

Select item 145863848418.

rs1458638484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112738887 (GRCh38)
2:113496464 (GRCh37)
Canonical SPDI:: NC_000002.12:112738886:C:T
Gene:: CKAP2L (Varview), NT5DC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112738887C>T, NC_000002.11:g.113496464C>T, NG_041820.1:g.30791G>A, NM_152515.5:c.2174G>A, NM_152515.4:c.2174G>A, NM_152515.3:c.2174G>A, NM_001304361.2:c.1679G>A, NM_001304361.1:c.1679G>A, NR_130712.2:n.1427G>A, NR_130712.1:n.1495G>A, XM_011510666.3:c.1679G>A, XM_011510666.2:c.1679G>A, XM_011510666.1:c.1679G>A, NP_689728.3:p.Cys725Tyr, NP_001291290.1:p.Cys560Tyr, XP_011508968.1:p.Cys560Tyr

Select item 145702596719.

rs1457025967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112756480 (GRCh38)
2:113514057 (GRCh37)
Canonical SPDI:: NC_000002.12:112756479:G:A
Gene:: CKAP2L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112756480G>A, NC_000002.11:g.113514057G>A, NG_041820.1:g.13198C>T, NM_152515.5:c.891C>T, NM_152515.4:c.891C>T, NM_152515.3:c.891C>T, NM_001304361.2:c.396C>T, NM_001304361.1:c.396C>T, XM_011510666.3:c.396C>T, XM_011510666.2:c.396C>T, XM_011510666.1:c.396C>T

Select item 145334006820.

rs1453340068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:112756823 (GRCh38)
2:113514400 (GRCh37)
Canonical SPDI:: NC_000002.12:112756822:G:C
Gene:: CKAP2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112756823G>C, NC_000002.11:g.113514400G>C, NG_041820.1:g.12855C>G, NM_152515.5:c.548C>G, NM_152515.4:c.548C>G, NM_152515.3:c.548C>G, NM_001304361.2:c.53C>G, NM_001304361.1:c.53C>G, XM_011510666.3:c.53C>G, XM_011510666.2:c.53C>G, XM_011510666.1:c.53C>G, NP_689728.3:p.Thr183Arg, NP_001291290.1:p.Thr18Arg, XP_011508968.1:p.Thr18Arg

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