SNP Links for Protein (Select 226529429) - SNP

Links from Protein

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Select item 14902612711.

rs1490261271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63247768 (GRCh38)
20:61879120 (GRCh37)
Canonical SPDI:: NC_000020.11:63247767:T:C
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.63247768T>C, NC_000020.10:g.61879120T>C, XM_011528529.4:c.95A>G, XM_011528529.3:c.95A>G, XM_011528529.2:c.95A>G, XM_011528529.1:c.95A>G, XM_011528528.4:c.95A>G, XM_011528528.3:c.95A>G, XM_011528528.2:c.95A>G, XM_011528528.1:c.95A>G, NM_152864.4:c.281A>G, NM_152864.3:c.281A>G, XM_017027637.3:c.95A>G, XM_017027637.2:c.95A>G, XM_017027637.1:c.95A>G, XM_017027636.3:c.95A>G, XM_017027636.2:c.95A>G, XM_017027636.1:c.95A>G, XM_011528527.3:c.281A>G, XM_011528527.2:c.281A>G, XM_011528527.1:c.281A>G, XM_005260192.3:c.281A>G, XM_005260192.2:c.281A>G, XM_005260192.1:c.281A>G, XM_024451824.2:c.95A>G, XM_024451824.1:c.95A>G, XM_047440633.1:c.*1788T>C, NM_001363747.1:c.95A>G, XM_047439872.1:c.95A>G, NM_001363718.1:c.95A>G, XM_047439871.1:c.95A>G, XP_011526831.1:p.Glu32Gly, XP_011526830.1:p.Glu32Gly, NP_690603.3:p.Glu94Gly, XP_016883126.1:p.Glu32Gly, XP_016883125.1:p.Glu32Gly, XP_011526829.1:p.Glu94Gly, XP_005260249.1:p.Glu94Gly, XP_024307592.1:p.Glu32Gly, NP_001350676.1:p.Glu32Gly, XP_047295828.1:p.Glu32Gly, NP_001350647.1:p.Glu32Gly, XP_047295827.1:p.Glu32Gly

Select item 14890061972.

rs1489006197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63247741 (GRCh38)
20:61879093 (GRCh37)
Canonical SPDI:: NC_000020.11:63247740:T:C
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63247741T>C, NC_000020.10:g.61879093T>C, XM_011528529.4:c.122A>G, XM_011528529.3:c.122A>G, XM_011528529.2:c.122A>G, XM_011528529.1:c.122A>G, XM_011528528.4:c.122A>G, XM_011528528.3:c.122A>G, XM_011528528.2:c.122A>G, XM_011528528.1:c.122A>G, NM_152864.4:c.308A>G, NM_152864.3:c.308A>G, XM_017027637.3:c.122A>G, XM_017027637.2:c.122A>G, XM_017027637.1:c.122A>G, XM_017027636.3:c.122A>G, XM_017027636.2:c.122A>G, XM_017027636.1:c.122A>G, XM_011528527.3:c.308A>G, XM_011528527.2:c.308A>G, XM_011528527.1:c.308A>G, XM_005260192.3:c.308A>G, XM_005260192.2:c.308A>G, XM_005260192.1:c.308A>G, XM_024451824.2:c.122A>G, XM_024451824.1:c.122A>G, XM_047440633.1:c.*1761T>C, NM_001363747.1:c.122A>G, XM_047439872.1:c.122A>G, NM_001363718.1:c.122A>G, XM_047439871.1:c.122A>G, XP_011526831.1:p.His41Arg, XP_011526830.1:p.His41Arg, NP_690603.3:p.His103Arg, XP_016883126.1:p.His41Arg, XP_016883125.1:p.His41Arg, XP_011526829.1:p.His103Arg, XP_005260249.1:p.His103Arg, XP_024307592.1:p.His41Arg, NP_001350676.1:p.His41Arg, XP_047295828.1:p.His41Arg, NP_001350647.1:p.His41Arg, XP_047295827.1:p.His41Arg

Select item 14829841173.

rs1482984117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63247747 (GRCh38)
20:61879099 (GRCh37)
Canonical SPDI:: NC_000020.11:63247746:G:A
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000048/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63247747G>A, NC_000020.10:g.61879099G>A, XM_011528529.4:c.116C>T, XM_011528529.3:c.116C>T, XM_011528529.2:c.116C>T, XM_011528529.1:c.116C>T, XM_011528528.4:c.116C>T, XM_011528528.3:c.116C>T, XM_011528528.2:c.116C>T, XM_011528528.1:c.116C>T, NM_152864.4:c.302C>T, NM_152864.3:c.302C>T, XM_017027637.3:c.116C>T, XM_017027637.2:c.116C>T, XM_017027637.1:c.116C>T, XM_017027636.3:c.116C>T, XM_017027636.2:c.116C>T, XM_017027636.1:c.116C>T, XM_011528527.3:c.302C>T, XM_011528527.2:c.302C>T, XM_011528527.1:c.302C>T, XM_005260192.3:c.302C>T, XM_005260192.2:c.302C>T, XM_005260192.1:c.302C>T, XM_024451824.2:c.116C>T, XM_024451824.1:c.116C>T, XM_047440633.1:c.*1767G>A, NM_001363747.1:c.116C>T, XM_047439872.1:c.116C>T, NM_001363718.1:c.116C>T, XM_047439871.1:c.116C>T, XP_011526831.1:p.Ser39Phe, XP_011526830.1:p.Ser39Phe, NP_690603.3:p.Ser101Phe, XP_016883126.1:p.Ser39Phe, XP_016883125.1:p.Ser39Phe, XP_011526829.1:p.Ser101Phe, XP_005260249.1:p.Ser101Phe, XP_024307592.1:p.Ser39Phe, NP_001350676.1:p.Ser39Phe, XP_047295828.1:p.Ser39Phe, NP_001350647.1:p.Ser39Phe, XP_047295827.1:p.Ser39Phe

Select item 14729697284.

rs1472969728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63250058 (GRCh38)
20:61881410 (GRCh37)
Canonical SPDI:: NC_000020.11:63250057:C:T
Gene:: NKAIN4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63250058C>T, NC_000020.10:g.61881410C>T, XM_011528529.4:c.-118G>A, XM_011528529.3:c.-118G>A, XM_011528529.2:c.-118G>A, XM_011528529.1:c.-118G>A, XM_011528528.4:c.-118G>A, XM_011528528.3:c.-118G>A, XM_011528528.2:c.-118G>A, XM_011528528.1:c.-118G>A, NM_152864.4:c.69G>A, NM_152864.3:c.69G>A, XM_017027637.3:c.-118G>A, XM_017027637.2:c.-118G>A, XM_017027637.1:c.-118G>A, XM_017027636.3:c.-118G>A, XM_017027636.2:c.-118G>A, XM_017027636.1:c.-118G>A, XM_011528527.3:c.69G>A, XM_011528527.2:c.69G>A, XM_011528527.1:c.69G>A, XM_005260192.3:c.69G>A, XM_005260192.2:c.69G>A, XM_005260192.1:c.69G>A, XM_024451824.2:c.-118G>A, XM_024451824.1:c.-118G>A, NM_001363747.1:c.-118G>A, XM_047439872.1:c.-118G>A, NM_001363718.1:c.-118G>A, XM_047439871.1:c.-118G>A

Select item 14723031475.

rs1472303147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:63247697 (GRCh38)
20:61879049 (GRCh37)
Canonical SPDI:: NC_000020.11:63247696:C:A,NC_000020.11:63247696:C:T
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63247697C>A, NC_000020.11:g.63247697C>T, NC_000020.10:g.61879049C>A, NC_000020.10:g.61879049C>T, XM_011528529.4:c.166G>T, XM_011528529.4:c.166G>A, XM_011528529.3:c.166G>T, XM_011528529.3:c.166G>A, XM_011528529.2:c.166G>T, XM_011528529.2:c.166G>A, XM_011528529.1:c.166G>T, XM_011528529.1:c.166G>A, XM_011528528.4:c.166G>T, XM_011528528.4:c.166G>A, XM_011528528.3:c.166G>T, XM_011528528.3:c.166G>A, XM_011528528.2:c.166G>T, XM_011528528.2:c.166G>A, XM_011528528.1:c.166G>T, XM_011528528.1:c.166G>A, NM_152864.4:c.352G>T, NM_152864.4:c.352G>A, NM_152864.3:c.352G>T, NM_152864.3:c.352G>A, XM_017027637.3:c.166G>T, XM_017027637.3:c.166G>A, XM_017027637.2:c.166G>T, XM_017027637.2:c.166G>A, XM_017027637.1:c.166G>T, XM_017027637.1:c.166G>A, XM_017027636.3:c.166G>T, XM_017027636.3:c.166G>A, XM_017027636.2:c.166G>T, XM_017027636.2:c.166G>A, XM_017027636.1:c.166G>T, XM_017027636.1:c.166G>A, XM_011528527.3:c.352G>T, XM_011528527.3:c.352G>A, XM_011528527.2:c.352G>T, XM_011528527.2:c.352G>A, XM_011528527.1:c.352G>T, XM_011528527.1:c.352G>A, XM_005260192.3:c.352G>T, XM_005260192.3:c.352G>A, XM_005260192.2:c.352G>T, XM_005260192.2:c.352G>A, XM_005260192.1:c.352G>T, XM_005260192.1:c.352G>A, XM_024451824.2:c.166G>T, XM_024451824.2:c.166G>A, XM_024451824.1:c.166G>T, XM_024451824.1:c.166G>A, XM_047440633.1:c.*1717C>A, XM_047440633.1:c.*1717C>T, NM_001363747.1:c.166G>T, NM_001363747.1:c.166G>A, XM_047439872.1:c.166G>T, XM_047439872.1:c.166G>A, NM_001363718.1:c.166G>T, NM_001363718.1:c.166G>A, XM_047439871.1:c.166G>T, XM_047439871.1:c.166G>A, XP_011526831.1:p.Glu56Ter, XP_011526831.1:p.Glu56Lys, XP_011526830.1:p.Glu56Ter, XP_011526830.1:p.Glu56Lys, NP_690603.3:p.Glu118Ter, NP_690603.3:p.Glu118Lys, XP_016883126.1:p.Glu56Ter, XP_016883126.1:p.Glu56Lys, XP_016883125.1:p.Glu56Ter, XP_016883125.1:p.Glu56Lys, XP_011526829.1:p.Glu118Ter, XP_011526829.1:p.Glu118Lys, XP_005260249.1:p.Glu118Ter, XP_005260249.1:p.Glu118Lys, XP_024307592.1:p.Glu56Ter, XP_024307592.1:p.Glu56Lys, NP_001350676.1:p.Glu56Ter, NP_001350676.1:p.Glu56Lys, XP_047295828.1:p.Glu56Ter, XP_047295828.1:p.Glu56Lys, NP_001350647.1:p.Glu56Ter, NP_001350647.1:p.Glu56Lys, XP_047295827.1:p.Glu56Ter, XP_047295827.1:p.Glu56Lys

Select item 14722330406.

rs1472233040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63249951 (GRCh38)
20:61881303 (GRCh37)
Canonical SPDI:: NC_000020.11:63249950:A:G
Gene:: NKAIN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63249951A>G, NC_000020.10:g.61881303A>G, XM_011528529.4:c.-11T>C, XM_011528529.3:c.-11T>C, XM_011528529.2:c.-11T>C, XM_011528529.1:c.-11T>C, XM_011528528.4:c.-11T>C, XM_011528528.3:c.-11T>C, XM_011528528.2:c.-11T>C, XM_011528528.1:c.-11T>C, NM_152864.4:c.176T>C, NM_152864.3:c.176T>C, XM_017027637.3:c.-11T>C, XM_017027637.2:c.-11T>C, XM_017027637.1:c.-11T>C, XM_017027636.3:c.-11T>C, XM_017027636.2:c.-11T>C, XM_017027636.1:c.-11T>C, XM_011528527.3:c.176T>C, XM_011528527.2:c.176T>C, XM_011528527.1:c.176T>C, XM_005260192.3:c.176T>C, XM_005260192.2:c.176T>C, XM_005260192.1:c.176T>C, XM_024451824.2:c.-11T>C, XM_024451824.1:c.-11T>C, NM_001363747.1:c.-11T>C, XM_047439872.1:c.-11T>C, NM_001363718.1:c.-11T>C, XM_047439871.1:c.-11T>C, NP_690603.3:p.Leu59Pro, XP_011526829.1:p.Leu59Pro, XP_005260249.1:p.Leu59Pro

Select item 14669584217.

rs1466958421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63247606 (GRCh38)
20:61878958 (GRCh37)
Canonical SPDI:: NC_000020.11:63247605:A:G
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.63247606A>G, NC_000020.10:g.61878958A>G, XM_011528529.4:c.257T>C, XM_011528529.3:c.257T>C, XM_011528529.2:c.257T>C, XM_011528529.1:c.257T>C, XM_011528528.4:c.257T>C, XM_011528528.3:c.257T>C, XM_011528528.2:c.257T>C, XM_011528528.1:c.257T>C, NM_152864.4:c.443T>C, NM_152864.3:c.443T>C, XM_017027637.3:c.257T>C, XM_017027637.2:c.257T>C, XM_017027637.1:c.257T>C, XM_017027636.3:c.257T>C, XM_017027636.2:c.257T>C, XM_017027636.1:c.257T>C, XM_011528527.3:c.443T>C, XM_011528527.2:c.443T>C, XM_011528527.1:c.443T>C, XM_005260192.3:c.443T>C, XM_005260192.2:c.443T>C, XM_005260192.1:c.443T>C, XM_024451824.2:c.257T>C, XM_024451824.1:c.257T>C, XM_047440633.1:c.*1626A>G, NM_001363747.1:c.257T>C, XM_047439872.1:c.257T>C, NM_001363718.1:c.257T>C, XM_047439871.1:c.257T>C, XP_011526831.1:p.Leu86Pro, XP_011526830.1:p.Leu86Pro, NP_690603.3:p.Leu148Pro, XP_016883126.1:p.Leu86Pro, XP_016883125.1:p.Leu86Pro, XP_011526829.1:p.Leu148Pro, XP_005260249.1:p.Leu148Pro, XP_024307592.1:p.Leu86Pro, NP_001350676.1:p.Leu86Pro, XP_047295828.1:p.Leu86Pro, NP_001350647.1:p.Leu86Pro, XP_047295827.1:p.Leu86Pro

Select item 14631914898.

rs1463191489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63247594 (GRCh38)
20:61878946 (GRCh37)
Canonical SPDI:: NC_000020.11:63247593:A:G
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.63247594A>G, NC_000020.10:g.61878946A>G, XM_011528529.4:c.269T>C, XM_011528529.3:c.269T>C, XM_011528529.2:c.269T>C, XM_011528529.1:c.269T>C, XM_011528528.4:c.269T>C, XM_011528528.3:c.269T>C, XM_011528528.2:c.269T>C, XM_011528528.1:c.269T>C, NM_152864.4:c.455T>C, NM_152864.3:c.455T>C, XM_017027637.3:c.269T>C, XM_017027637.2:c.269T>C, XM_017027637.1:c.269T>C, XM_017027636.3:c.269T>C, XM_017027636.2:c.269T>C, XM_017027636.1:c.269T>C, XM_011528527.3:c.455T>C, XM_011528527.2:c.455T>C, XM_011528527.1:c.455T>C, XM_005260192.3:c.455T>C, XM_005260192.2:c.455T>C, XM_005260192.1:c.455T>C, XM_024451824.2:c.269T>C, XM_024451824.1:c.269T>C, XM_047440633.1:c.*1614A>G, NM_001363747.1:c.269T>C, XM_047439872.1:c.269T>C, NM_001363718.1:c.269T>C, XM_047439871.1:c.269T>C, XP_011526831.1:p.Leu90Pro, XP_011526830.1:p.Leu90Pro, NP_690603.3:p.Leu152Pro, XP_016883126.1:p.Leu90Pro, XP_016883125.1:p.Leu90Pro, XP_011526829.1:p.Leu152Pro, XP_005260249.1:p.Leu152Pro, XP_024307592.1:p.Leu90Pro, NP_001350676.1:p.Leu90Pro, XP_047295828.1:p.Leu90Pro, NP_001350647.1:p.Leu90Pro, XP_047295827.1:p.Leu90Pro

Select item 14629507429.

rs1462950742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63254432 (GRCh38)
20:61885784 (GRCh37)
Canonical SPDI:: NC_000020.11:63254431:G:A
Gene:: NKAIN4 (Varview), FLJ16779 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63254432G>A, NC_000020.10:g.61885784G>A, NM_152864.4:c.19C>T, NM_152864.3:c.19C>T, XM_011528527.3:c.19C>T, XM_011528527.2:c.19C>T, XM_011528527.1:c.19C>T, XM_005260192.3:c.19C>T, XM_005260192.2:c.19C>T, XM_005260192.1:c.19C>T, NR_024389.1:n.455G>A, NP_690603.3:p.Arg7Cys, XP_011526829.1:p.Arg7Cys, XP_005260249.1:p.Arg7Cys

Select item 145682768910.

rs1456827689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63247617 (GRCh38)
20:61878969 (GRCh37)
Canonical SPDI:: NC_000020.11:63247616:A:G
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63247617A>G, NC_000020.10:g.61878969A>G, XM_011528529.4:c.246T>C, XM_011528529.3:c.246T>C, XM_011528529.2:c.246T>C, XM_011528529.1:c.246T>C, XM_011528528.4:c.246T>C, XM_011528528.3:c.246T>C, XM_011528528.2:c.246T>C, XM_011528528.1:c.246T>C, NM_152864.4:c.432T>C, NM_152864.3:c.432T>C, XM_017027637.3:c.246T>C, XM_017027637.2:c.246T>C, XM_017027637.1:c.246T>C, XM_017027636.3:c.246T>C, XM_017027636.2:c.246T>C, XM_017027636.1:c.246T>C, XM_011528527.3:c.432T>C, XM_011528527.2:c.432T>C, XM_011528527.1:c.432T>C, XM_005260192.3:c.432T>C, XM_005260192.2:c.432T>C, XM_005260192.1:c.432T>C, XM_024451824.2:c.246T>C, XM_024451824.1:c.246T>C, XM_047440633.1:c.*1637A>G, NM_001363747.1:c.246T>C, XM_047439872.1:c.246T>C, NM_001363718.1:c.246T>C, XM_047439871.1:c.246T>C

Select item 145513635211.

rs1455136352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63242586 (GRCh38)
20:61873938 (GRCh37)
Canonical SPDI:: NC_000020.11:63242585:G:A
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000020.11:g.63242586G>A, NC_000020.10:g.61873938G>A, XM_011528529.4:c.384C>T, XM_011528529.3:c.384C>T, XM_011528529.2:c.384C>T, XM_011528529.1:c.384C>T, XM_011528528.4:c.384C>T, XM_011528528.3:c.384C>T, XM_011528528.2:c.384C>T, XM_011528528.1:c.384C>T, NM_152864.4:c.570C>T, NM_152864.3:c.570C>T, XM_017027637.3:c.384C>T, XM_017027637.2:c.384C>T, XM_017027637.1:c.384C>T, XM_017027636.3:c.384C>T, XM_017027636.2:c.384C>T, XM_017027636.1:c.384C>T, XM_011528527.3:c.570C>T, XM_011528527.2:c.570C>T, XM_011528527.1:c.570C>T, XM_024451824.2:c.384C>T, XM_024451824.1:c.384C>T, NM_001363747.1:c.384C>T, XM_047439872.1:c.384C>T, XM_047439871.1:c.384C>T

Select item 145496214712.

rs1454962147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCGC [Show Flanks]
Chromosome:: 20:63254423 (GRCh38)
20:61885776 (GRCh37)
Canonical SPDI:: NC_000020.11:63254423:CGCGC:CGCGCCGCGC
Gene:: NKAIN4 (Varview), FLJ16779 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCCGCGC=0./0 (ALFA)
CGCGC=0.000008/2 (TOPMED)
CGCGC=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.63254424_63254428dup, NC_000020.10:g.61885776_61885780dup, NM_152864.4:c.23_27dup, NM_152864.3:c.23_27dup, XM_011528527.3:c.23_27dup, XM_011528527.2:c.23_27dup, XM_011528527.1:c.23_27dup, XM_005260192.3:c.23_27dup, XM_005260192.2:c.23_27dup, XM_005260192.1:c.23_27dup, NR_024389.1:n.447_451dup, NP_690603.3:p.Leu10fs, XP_011526829.1:p.Leu10fs, XP_005260249.1:p.Leu10fs

Select item 145087999513.

rs1450879995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63242566 (GRCh38)
20:61873918 (GRCh37)
Canonical SPDI:: NC_000020.11:63242565:G:A
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.63242566G>A, NC_000020.10:g.61873918G>A, XM_011528529.4:c.404C>T, XM_011528529.3:c.404C>T, XM_011528529.2:c.404C>T, XM_011528529.1:c.404C>T, XM_011528528.4:c.404C>T, XM_011528528.3:c.404C>T, XM_011528528.2:c.404C>T, XM_011528528.1:c.404C>T, NM_152864.4:c.590C>T, NM_152864.3:c.590C>T, XM_017027637.3:c.404C>T, XM_017027637.2:c.404C>T, XM_017027637.1:c.404C>T, XM_017027636.3:c.404C>T, XM_017027636.2:c.404C>T, XM_017027636.1:c.404C>T, XM_011528527.3:c.590C>T, XM_011528527.2:c.590C>T, XM_011528527.1:c.590C>T, XM_024451824.2:c.404C>T, XM_024451824.1:c.404C>T, NM_001363747.1:c.404C>T, XM_047439872.1:c.404C>T, XM_047439871.1:c.404C>T, XP_011526831.1:p.Ser135Phe, XP_011526830.1:p.Ser135Phe, NP_690603.3:p.Ser197Phe, XP_016883126.1:p.Ser135Phe, XP_016883125.1:p.Ser135Phe, XP_011526829.1:p.Ser197Phe, XP_024307592.1:p.Ser135Phe, NP_001350676.1:p.Ser135Phe, XP_047295828.1:p.Ser135Phe, XP_047295827.1:p.Ser135Phe

Select item 144804476014.

rs1448044760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:63250009 (GRCh38)
20:61881361 (GRCh37)
Canonical SPDI:: NC_000020.11:63250008:T:C,NC_000020.11:63250008:T:G
Gene:: NKAIN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63250009T>C, NC_000020.11:g.63250009T>G, NC_000020.10:g.61881361T>C, NC_000020.10:g.61881361T>G, XM_011528529.4:c.-69A>G, XM_011528529.4:c.-69A>C, XM_011528529.3:c.-69A>G, XM_011528529.3:c.-69A>C, XM_011528529.2:c.-69A>G, XM_011528529.2:c.-69A>C, XM_011528529.1:c.-69A>G, XM_011528529.1:c.-69A>C, XM_011528528.4:c.-69A>G, XM_011528528.4:c.-69A>C, XM_011528528.3:c.-69A>G, XM_011528528.3:c.-69A>C, XM_011528528.2:c.-69A>G, XM_011528528.2:c.-69A>C, XM_011528528.1:c.-69A>G, XM_011528528.1:c.-69A>C, NM_152864.4:c.118A>G, NM_152864.4:c.118A>C, NM_152864.3:c.118A>G, NM_152864.3:c.118A>C, XM_017027637.3:c.-69A>G, XM_017027637.3:c.-69A>C, XM_017027637.2:c.-69A>G, XM_017027637.2:c.-69A>C, XM_017027637.1:c.-69A>G, XM_017027637.1:c.-69A>C, XM_017027636.3:c.-69A>G, XM_017027636.3:c.-69A>C, XM_017027636.2:c.-69A>G, XM_017027636.2:c.-69A>C, XM_017027636.1:c.-69A>G, XM_017027636.1:c.-69A>C, XM_011528527.3:c.118A>G, XM_011528527.3:c.118A>C, XM_011528527.2:c.118A>G, XM_011528527.2:c.118A>C, XM_011528527.1:c.118A>G, XM_011528527.1:c.118A>C, XM_005260192.3:c.118A>G, XM_005260192.3:c.118A>C, XM_005260192.2:c.118A>G, XM_005260192.2:c.118A>C, XM_005260192.1:c.118A>G, XM_005260192.1:c.118A>C, XM_024451824.2:c.-69A>G, XM_024451824.2:c.-69A>C, XM_024451824.1:c.-69A>G, XM_024451824.1:c.-69A>C, NM_001363747.1:c.-69A>G, NM_001363747.1:c.-69A>C, XM_047439872.1:c.-69A>G, XM_047439872.1:c.-69A>C, NM_001363718.1:c.-69A>G, NM_001363718.1:c.-69A>C, XM_047439871.1:c.-69A>G, XM_047439871.1:c.-69A>C, NP_690603.3:p.Asn40Asp, NP_690603.3:p.Asn40His, XP_011526829.1:p.Asn40Asp, XP_011526829.1:p.Asn40His, XP_005260249.1:p.Asn40Asp, XP_005260249.1:p.Asn40His

Select item 144565409415.

rs1445654094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63247773 (GRCh38)
20:61879125 (GRCh37)
Canonical SPDI:: NC_000020.11:63247772:G:A
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.63247773G>A, NC_000020.10:g.61879125G>A, XM_011528529.4:c.90C>T, XM_011528529.3:c.90C>T, XM_011528529.2:c.90C>T, XM_011528529.1:c.90C>T, XM_011528528.4:c.90C>T, XM_011528528.3:c.90C>T, XM_011528528.2:c.90C>T, XM_011528528.1:c.90C>T, NM_152864.4:c.276C>T, NM_152864.3:c.276C>T, XM_017027637.3:c.90C>T, XM_017027637.2:c.90C>T, XM_017027637.1:c.90C>T, XM_017027636.3:c.90C>T, XM_017027636.2:c.90C>T, XM_017027636.1:c.90C>T, XM_011528527.3:c.276C>T, XM_011528527.2:c.276C>T, XM_011528527.1:c.276C>T, XM_005260192.3:c.276C>T, XM_005260192.2:c.276C>T, XM_005260192.1:c.276C>T, XM_024451824.2:c.90C>T, XM_024451824.1:c.90C>T, XM_047440633.1:c.*1793G>A, NM_001363747.1:c.90C>T, XM_047439872.1:c.90C>T, NM_001363718.1:c.90C>T, XM_047439871.1:c.90C>T

Select item 143891979816.

rs1438919798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:63242602 (GRCh38)
20:61873954 (GRCh37)
Canonical SPDI:: NC_000020.11:63242601:T:A
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.63242602T>A, NC_000020.10:g.61873954T>A, XM_011528529.4:c.368A>T, XM_011528529.3:c.368A>T, XM_011528529.2:c.368A>T, XM_011528529.1:c.368A>T, XM_011528528.4:c.368A>T, XM_011528528.3:c.368A>T, XM_011528528.2:c.368A>T, XM_011528528.1:c.368A>T, NM_152864.4:c.554A>T, NM_152864.3:c.554A>T, XM_017027637.3:c.368A>T, XM_017027637.2:c.368A>T, XM_017027637.1:c.368A>T, XM_017027636.3:c.368A>T, XM_017027636.2:c.368A>T, XM_017027636.1:c.368A>T, XM_011528527.3:c.554A>T, XM_011528527.2:c.554A>T, XM_011528527.1:c.554A>T, XM_024451824.2:c.368A>T, XM_024451824.1:c.368A>T, NM_001363747.1:c.368A>T, XM_047439872.1:c.368A>T, XM_047439871.1:c.368A>T, XP_011526831.1:p.Asp123Val, XP_011526830.1:p.Asp123Val, NP_690603.3:p.Asp185Val, XP_016883126.1:p.Asp123Val, XP_016883125.1:p.Asp123Val, XP_011526829.1:p.Asp185Val, XP_024307592.1:p.Asp123Val, NP_001350676.1:p.Asp123Val, XP_047295828.1:p.Asp123Val, XP_047295827.1:p.Asp123Val

Select item 143790265217.

rs1437902652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63249945 (GRCh38)
20:61881297 (GRCh37)
Canonical SPDI:: NC_000020.11:63249944:T:C
Gene:: NKAIN4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63249945T>C, NC_000020.10:g.61881297T>C, XM_011528529.4:c.-5A>G, XM_011528529.3:c.-5A>G, XM_011528529.2:c.-5A>G, XM_011528529.1:c.-5A>G, XM_011528528.4:c.-5A>G, XM_011528528.3:c.-5A>G, XM_011528528.2:c.-5A>G, XM_011528528.1:c.-5A>G, NM_152864.4:c.182A>G, NM_152864.3:c.182A>G, XM_017027637.3:c.-5A>G, XM_017027637.2:c.-5A>G, XM_017027637.1:c.-5A>G, XM_017027636.3:c.-5A>G, XM_017027636.2:c.-5A>G, XM_017027636.1:c.-5A>G, XM_011528527.3:c.182A>G, XM_011528527.2:c.182A>G, XM_011528527.1:c.182A>G, XM_005260192.3:c.182A>G, XM_005260192.2:c.182A>G, XM_005260192.1:c.182A>G, XM_024451824.2:c.-5A>G, XM_024451824.1:c.-5A>G, NM_001363747.1:c.-5A>G, XM_047439872.1:c.-5A>G, NM_001363718.1:c.-5A>G, XM_047439871.1:c.-5A>G, NP_690603.3:p.Tyr61Cys, XP_011526829.1:p.Tyr61Cys, XP_005260249.1:p.Tyr61Cys

Select item 143517867118.

rs1435178671 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:63241498 (GRCh38)
20:61872851 (GRCh37)
Canonical SPDI:: NC_000020.11:63241498:A:AA
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,frameshift_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.63241499dup, NC_000020.10:g.61872851dup, NG_029552.1:g.10576dup, XM_011528529.4:c.*202dup, XM_011528529.3:c.*202dup, XM_011528529.2:c.*202dup, XM_011528529.1:c.*202dup, XM_011528528.4:c.*202dup, XM_011528528.3:c.*202dup, XM_011528528.2:c.*202dup, XM_011528528.1:c.*202dup, NM_152864.4:c.625dup, NM_152864.3:c.625dup, XM_017027637.3:c.*202dup, XM_017027637.2:c.*202dup, XM_017027637.1:c.*202dup, XM_017027636.3:c.*202dup, XM_017027636.2:c.*202dup, XM_017027636.1:c.*202dup, XM_011528527.3:c.*202dup, XM_011528527.2:c.*202dup, XM_011528527.1:c.*202dup, XM_005260192.3:c.540dup, XM_005260192.2:c.540dup, XM_005260192.1:c.540dup, XM_024451824.2:c.*202dup, XM_024451824.1:c.*202dup, NM_001363747.1:c.439dup, XM_047439872.1:c.*202dup, NM_001363718.1:c.354dup, XM_047439871.1:c.439dup, NP_690603.3:p.Ter209LeuextTer?, XP_005260249.1:p.Lys181Ter, NP_001350676.1:p.Ter147LeuextTer?, NP_001350647.1:p.Lys119Ter, XP_047295827.1:p.Ter147LeuextTer?

Select item 143416236819.

rs1434162368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:63247681 (GRCh38)
20:61879033 (GRCh37)
Canonical SPDI:: NC_000020.11:63247680:C:A
Gene:: NKAIN4 (Varview), LOC124904950 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.63247681C>A, NC_000020.10:g.61879033C>A, XM_011528529.4:c.182G>T, XM_011528529.3:c.182G>T, XM_011528529.2:c.182G>T, XM_011528529.1:c.182G>T, XM_011528528.4:c.182G>T, XM_011528528.3:c.182G>T, XM_011528528.2:c.182G>T, XM_011528528.1:c.182G>T, NM_152864.4:c.368G>T, NM_152864.3:c.368G>T, XM_017027637.3:c.182G>T, XM_017027637.2:c.182G>T, XM_017027637.1:c.182G>T, XM_017027636.3:c.182G>T, XM_017027636.2:c.182G>T, XM_017027636.1:c.182G>T, XM_011528527.3:c.368G>T, XM_011528527.2:c.368G>T, XM_011528527.1:c.368G>T, XM_005260192.3:c.368G>T, XM_005260192.2:c.368G>T, XM_005260192.1:c.368G>T, XM_024451824.2:c.182G>T, XM_024451824.1:c.182G>T, XM_047440633.1:c.*1701C>A, NM_001363747.1:c.182G>T, XM_047439872.1:c.182G>T, NM_001363718.1:c.182G>T, XM_047439871.1:c.182G>T, XP_011526831.1:p.Gly61Val, XP_011526830.1:p.Gly61Val, NP_690603.3:p.Gly123Val, XP_016883126.1:p.Gly61Val, XP_016883125.1:p.Gly61Val, XP_011526829.1:p.Gly123Val, XP_005260249.1:p.Gly123Val, XP_024307592.1:p.Gly61Val, NP_001350676.1:p.Gly61Val, XP_047295828.1:p.Gly61Val, NP_001350647.1:p.Gly61Val, XP_047295827.1:p.Gly61Val

Select item 143287406220.

rs1432874062 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCAGCGGC>- [Show Flanks]
Chromosome:: 20:63254425 (GRCh38)
20:61885777 (GRCh37)
Canonical SPDI:: NC_000020.11:63254422:GCGCGCAGCGGC:GC
Gene:: NKAIN4 (Varview), FLJ16779 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.000094/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63254425_63254434del, NC_000020.10:g.61885777_61885786del, NM_152864.4:c.19_28del, NM_152864.3:c.19_28del, XM_011528527.3:c.19_28del, XM_011528527.2:c.19_28del, XM_011528527.1:c.19_28del, XM_005260192.3:c.19_28del, XM_005260192.2:c.19_28del, XM_005260192.1:c.19_28del, NR_024389.1:n.448_457del, NP_690603.3:p.Arg7fs, XP_011526829.1:p.Arg7fs, XP_005260249.1:p.Arg7fs

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