SNP Links for Protein (Select 1003701401) - SNP

Links from Protein

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Select item 14892636431.

rs1489263643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241686753 (GRCh38)
2:242626168 (GRCh37)
Canonical SPDI:: NC_000002.12:241686752:G:A
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241686753G>A, NC_000002.11:g.242626168G>A, NM_012145.4:c.31C>T, NM_012145.3:c.31C>T, NM_001320905.2:c.31C>T, NM_001320905.1:c.31C>T, NR_135492.2:n.63C>T, NR_135492.1:n.216C>T, NM_001320904.2:c.31C>T, NM_001320904.1:c.31C>T, NM_001165031.2:c.31C>T, NM_001165031.1:c.31C>T, NR_033255.2:n.63C>T, NR_033255.1:n.216C>T, NM_001320902.2:c.31C>T, NM_001320902.1:c.31C>T, NM_001320903.2:c.31C>T, NM_001320903.1:c.31C>T

Select item 14871901892.

rs1487190189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241678534 (GRCh38)
2:242617949 (GRCh37)
Canonical SPDI:: NC_000002.12:241678533:T:C
Gene:: DTYMK (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.241678534T>C, NC_000002.11:g.242617949T>C, NM_012145.4:c.446A>G, NM_012145.3:c.446A>G, NM_001320905.2:c.563A>G, NM_001320905.1:c.563A>G, NR_135492.2:n.440A>G, NR_135492.1:n.593A>G, NM_001320904.2:c.389A>G, NM_001320904.1:c.389A>G, NM_001165031.2:c.374A>G, NM_001165031.1:c.374A>G, NR_033255.2:n.387A>G, NR_033255.1:n.540A>G, NM_001320902.2:c.317A>G, NM_001320902.1:c.317A>G, NM_001320903.2:c.283A>G, NM_001320903.1:c.283A>G, NP_036277.2:p.Glu149Gly, NP_001307834.1:p.Glu188Gly, NP_001307833.1:p.Glu130Gly, NP_001158503.1:p.Glu125Gly, NP_001307831.1:p.Glu106Gly, NP_001307832.1:p.Ser95Gly

Select item 14871720103.

rs1487172010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241686696 (GRCh38)
2:242626111 (GRCh37)
Canonical SPDI:: NC_000002.12:241686695:G:A
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241686696G>A, NC_000002.11:g.242626111G>A, NM_012145.4:c.88C>T, NM_012145.3:c.88C>T, NM_001320905.2:c.88C>T, NM_001320905.1:c.88C>T, NR_135492.2:n.120C>T, NR_135492.1:n.273C>T, NM_001320904.2:c.88C>T, NM_001320904.1:c.88C>T, NM_001165031.2:c.88C>T, NM_001165031.1:c.88C>T, NR_033255.2:n.120C>T, NR_033255.1:n.273C>T, NM_001320902.2:c.88C>T, NM_001320902.1:c.88C>T, NM_001320903.2:c.88C>T, NM_001320903.1:c.88C>T

Select item 14760629284.

rs1476062928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:241678453 (GRCh38)
2:242617868 (GRCh37)
Canonical SPDI:: NC_000002.12:241678452:T:G
Gene:: DTYMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.241678453T>G, NC_000002.11:g.242617868T>G, NM_012145.4:c.527A>C, NM_012145.3:c.527A>C, NM_001320905.2:c.644A>C, NM_001320905.1:c.644A>C, NR_135492.2:n.521A>C, NR_135492.1:n.674A>C, NM_001320904.2:c.470A>C, NM_001320904.1:c.470A>C, NM_001165031.2:c.455A>C, NM_001165031.1:c.455A>C, NR_033255.2:n.468A>C, NR_033255.1:n.621A>C, NM_001320902.2:c.398A>C, NM_001320902.1:c.398A>C, NM_001320903.2:c.*22A>C, NM_001320903.1:c.*22A>C, NP_036277.2:p.Lys176Thr, NP_001307834.1:p.Lys215Thr, NP_001307833.1:p.Lys157Thr, NP_001158503.1:p.Lys152Thr, NP_001307831.1:p.Lys133Thr

Select item 14755299475.

rs1475529947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241676224 (GRCh38)
2:242615639 (GRCh37)
Canonical SPDI:: NC_000002.12:241676223:G:A
Gene:: DTYMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241676224G>A, NC_000002.11:g.242615639G>A, NM_012145.4:c.542C>T, NM_012145.3:c.542C>T, NM_001320905.2:c.659C>T, NM_001320905.1:c.659C>T, NR_135492.2:n.536C>T, NR_135492.1:n.689C>T, NM_001320904.2:c.485C>T, NM_001320904.1:c.485C>T, NM_001165031.2:c.470C>T, NM_001165031.1:c.470C>T, NR_033255.2:n.483C>T, NR_033255.1:n.636C>T, NM_001320902.2:c.413C>T, NM_001320902.1:c.413C>T, NM_001320903.2:c.*37C>T, NM_001320903.1:c.*37C>T, NP_036277.2:p.Ser181Phe, NP_001307834.1:p.Ser220Phe, NP_001307833.1:p.Ser162Phe, NP_001158503.1:p.Ser157Phe, NP_001307831.1:p.Ser138Phe

Select item 14755294576.

rs1475529457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:241676215 (GRCh38)
2:242615630 (GRCh37)
Canonical SPDI:: NC_000002.12:241676214:A:T
Gene:: DTYMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241676215A>T, NC_000002.11:g.242615630A>T, NM_012145.4:c.551T>A, NM_012145.3:c.551T>A, NM_001320905.2:c.668T>A, NM_001320905.1:c.668T>A, NR_135492.2:n.545T>A, NR_135492.1:n.698T>A, NM_001320904.2:c.494T>A, NM_001320904.1:c.494T>A, NM_001165031.2:c.479T>A, NM_001165031.1:c.479T>A, NR_033255.2:n.492T>A, NR_033255.1:n.645T>A, NM_001320902.2:c.422T>A, NM_001320902.1:c.422T>A, NM_001320903.2:c.*46T>A, NM_001320903.1:c.*46T>A, NP_036277.2:p.Ile184Asn, NP_001307834.1:p.Ile223Asn, NP_001307833.1:p.Ile165Asn, NP_001158503.1:p.Ile160Asn, NP_001307831.1:p.Ile141Asn

Select item 14752017597.

rs1475201759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:241678606 (GRCh38)
2:242618021 (GRCh37)
Canonical SPDI:: NC_000002.12:241678605:G:C
Gene:: DTYMK (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241678606G>C, NC_000002.11:g.242618021G>C, NM_012145.4:c.374C>G, NM_012145.3:c.374C>G, NM_001320905.2:c.491C>G, NM_001320905.1:c.491C>G, NR_135492.2:n.368C>G, NR_135492.1:n.521C>G, NM_001320904.2:c.317C>G, NM_001320904.1:c.317C>G, NR_033255.2:n.315C>G, NR_033255.1:n.468C>G, NM_001320902.2:c.245C>G, NM_001320902.1:c.245C>G, NP_036277.2:p.Pro125Arg, NP_001307834.1:p.Pro164Arg, NP_001307833.1:p.Pro106Arg, NP_001307831.1:p.Pro82Arg

Select item 14715621638.

rs1471562163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241676140 (GRCh38)
2:242615555 (GRCh37)
Canonical SPDI:: NC_000002.12:241676139:T:C
Gene:: DTYMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241676140T>C, NC_000002.11:g.242615555T>C, NM_012145.4:c.626A>G, NM_012145.3:c.626A>G, NM_001320905.2:c.743A>G, NM_001320905.1:c.743A>G, NR_135492.2:n.620A>G, NR_135492.1:n.773A>G, NM_001320904.2:c.569A>G, NM_001320904.1:c.569A>G, NM_001165031.2:c.554A>G, NM_001165031.1:c.554A>G, NR_033255.2:n.567A>G, NR_033255.1:n.720A>G, NM_001320902.2:c.497A>G, NM_001320902.1:c.497A>G, NM_001320903.2:c.*121A>G, NM_001320903.1:c.*121A>G, NP_036277.2:p.Glu209Gly, NP_001307834.1:p.Glu248Gly, NP_001307833.1:p.Glu190Gly, NP_001158503.1:p.Glu185Gly, NP_001307831.1:p.Glu166Gly

Select item 14712305069.

rs1471230506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241685840 (GRCh38)
2:242625255 (GRCh37)
Canonical SPDI:: NC_000002.12:241685839:G:A
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241685840G>A, NC_000002.11:g.242625255G>A, NM_012145.4:c.168C>T, NM_012145.3:c.168C>T, NM_001320905.2:c.168C>T, NM_001320905.1:c.168C>T, NR_135492.2:n.200C>T, NR_135492.1:n.353C>T, NM_001320904.2:c.168C>T, NM_001320904.1:c.168C>T, NM_001165031.2:c.168C>T, NM_001165031.1:c.168C>T, NR_033255.2:n.200C>T, NR_033255.1:n.353C>T, NM_001320902.2:c.168C>T, NM_001320902.1:c.168C>T, NM_001320903.2:c.168C>T, NM_001320903.1:c.168C>T

Select item 146675014210.

rs1466750142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:241686655 (GRCh38)
2:242626070 (GRCh37)
Canonical SPDI:: NC_000002.12:241686654:C:G,NC_000002.12:241686654:C:T
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000108/2 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.241686655C>G, NC_000002.12:g.241686655C>T, NC_000002.11:g.242626070C>G, NC_000002.11:g.242626070C>T, NM_012145.4:c.129G>C, NM_012145.4:c.129G>A, NM_012145.3:c.129G>C, NM_012145.3:c.129G>A, NM_001320905.2:c.129G>C, NM_001320905.2:c.129G>A, NM_001320905.1:c.129G>C, NM_001320905.1:c.129G>A, NR_135492.2:n.161G>C, NR_135492.2:n.161G>A, NR_135492.1:n.314G>C, NR_135492.1:n.314G>A, NM_001320904.2:c.129G>C, NM_001320904.2:c.129G>A, NM_001320904.1:c.129G>C, NM_001320904.1:c.129G>A, NM_001165031.2:c.129G>C, NM_001165031.2:c.129G>A, NM_001165031.1:c.129G>C, NM_001165031.1:c.129G>A, NR_033255.2:n.161G>C, NR_033255.2:n.161G>A, NR_033255.1:n.314G>C, NR_033255.1:n.314G>A, NM_001320902.2:c.129G>C, NM_001320902.2:c.129G>A, NM_001320902.1:c.129G>C, NM_001320902.1:c.129G>A, NM_001320903.2:c.129G>C, NM_001320903.2:c.129G>A, NM_001320903.1:c.129G>C, NM_001320903.1:c.129G>A

Select item 146279947611.

rs1462799476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:241678544 (GRCh38)
2:242617959 (GRCh37)
Canonical SPDI:: NC_000002.12:241678543:A:C,NC_000002.12:241678543:A:T
Gene:: DTYMK (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
C=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.241678544A>C, NC_000002.12:g.241678544A>T, NC_000002.11:g.242617959A>C, NC_000002.11:g.242617959A>T, NM_012145.4:c.436T>G, NM_012145.4:c.436T>A, NM_012145.3:c.436T>G, NM_012145.3:c.436T>A, NM_001320905.2:c.553T>G, NM_001320905.2:c.553T>A, NM_001320905.1:c.553T>G, NM_001320905.1:c.553T>A, NR_135492.2:n.430T>G, NR_135492.2:n.430T>A, NR_135492.1:n.583T>G, NR_135492.1:n.583T>A, NM_001320904.2:c.379T>G, NM_001320904.2:c.379T>A, NM_001320904.1:c.379T>G, NM_001320904.1:c.379T>A, NM_001165031.2:c.364T>G, NM_001165031.2:c.364T>A, NM_001165031.1:c.364T>G, NM_001165031.1:c.364T>A, NR_033255.2:n.377T>G, NR_033255.2:n.377T>A, NR_033255.1:n.530T>G, NR_033255.1:n.530T>A, NM_001320902.2:c.307T>G, NM_001320902.2:c.307T>A, NM_001320902.1:c.307T>G, NM_001320902.1:c.307T>A, NM_001320903.2:c.273T>G, NM_001320903.2:c.273T>A, NM_001320903.1:c.273T>G, NM_001320903.1:c.273T>A, NP_036277.2:p.Phe146Val, NP_036277.2:p.Phe146Ile, NP_001307834.1:p.Phe185Val, NP_001307834.1:p.Phe185Ile, NP_001307833.1:p.Phe127Val, NP_001307833.1:p.Phe127Ile, NP_001158503.1:p.Phe122Val, NP_001158503.1:p.Phe122Ile, NP_001307831.1:p.Phe103Val, NP_001307831.1:p.Phe103Ile

Select item 146183797012.

rs1461837970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:241676188 (GRCh38)
2:242615603 (GRCh37)
Canonical SPDI:: NC_000002.12:241676187:A:C
Gene:: DTYMK (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241676188A>C, NC_000002.11:g.242615603A>C, NM_012145.4:c.578T>G, NM_012145.3:c.578T>G, NM_001320905.2:c.695T>G, NM_001320905.1:c.695T>G, NR_135492.2:n.572T>G, NR_135492.1:n.725T>G, NM_001320904.2:c.521T>G, NM_001320904.1:c.521T>G, NM_001165031.2:c.506T>G, NM_001165031.1:c.506T>G, NR_033255.2:n.519T>G, NR_033255.1:n.672T>G, NM_001320902.2:c.449T>G, NM_001320902.1:c.449T>G, NM_001320903.2:c.*73T>G, NM_001320903.1:c.*73T>G, NP_036277.2:p.Val193Gly, NP_001307834.1:p.Val232Gly, NP_001307833.1:p.Val174Gly, NP_001158503.1:p.Val169Gly, NP_001307831.1:p.Val150Gly

Select item 144726123513.

rs1447261235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241676160 (GRCh38)
2:242615575 (GRCh37)
Canonical SPDI:: NC_000002.12:241676159:G:A
Gene:: DTYMK (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.241676160G>A, NC_000002.11:g.242615575G>A, NM_012145.4:c.606C>T, NM_012145.3:c.606C>T, NM_001320905.2:c.723C>T, NM_001320905.1:c.723C>T, NR_135492.2:n.600C>T, NR_135492.1:n.753C>T, NM_001320904.2:c.549C>T, NM_001320904.1:c.549C>T, NM_001165031.2:c.534C>T, NM_001165031.1:c.534C>T, NR_033255.2:n.547C>T, NR_033255.1:n.700C>T, NM_001320902.2:c.477C>T, NM_001320902.1:c.477C>T, NM_001320903.2:c.*101C>T, NM_001320903.1:c.*101C>T

Select item 144653502814.

rs1446535028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:241678461 (GRCh38)
2:242617876 (GRCh37)
Canonical SPDI:: NC_000002.12:241678460:C:A
Gene:: DTYMK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241678461C>A, NC_000002.11:g.242617876C>A, NM_012145.4:c.519G>T, NM_012145.3:c.519G>T, NM_001320905.2:c.636G>T, NM_001320905.1:c.636G>T, NR_135492.2:n.513G>T, NR_135492.1:n.666G>T, NM_001320904.2:c.462G>T, NM_001320904.1:c.462G>T, NM_001165031.2:c.447G>T, NM_001165031.1:c.447G>T, NR_033255.2:n.460G>T, NR_033255.1:n.613G>T, NM_001320902.2:c.390G>T, NM_001320902.1:c.390G>T, NM_001320903.2:c.*14G>T, NM_001320903.1:c.*14G>T, NP_036277.2:p.Leu173Phe, NP_001307834.1:p.Leu212Phe, NP_001307833.1:p.Leu154Phe, NP_001158503.1:p.Leu149Phe, NP_001307831.1:p.Leu130Phe

Select item 144644996915.

rs1446449969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241686730 (GRCh38)
2:242626145 (GRCh37)
Canonical SPDI:: NC_000002.12:241686729:C:T
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241686730C>T, NC_000002.11:g.242626145C>T, NM_012145.4:c.54G>A, NM_012145.3:c.54G>A, NM_001320905.2:c.54G>A, NM_001320905.1:c.54G>A, NR_135492.2:n.86G>A, NR_135492.1:n.239G>A, NM_001320904.2:c.54G>A, NM_001320904.1:c.54G>A, NM_001165031.2:c.54G>A, NM_001165031.1:c.54G>A, NR_033255.2:n.86G>A, NR_033255.1:n.239G>A, NM_001320902.2:c.54G>A, NM_001320902.1:c.54G>A, NM_001320903.2:c.54G>A, NM_001320903.1:c.54G>A

Select item 144494710316.

rs1444947103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241686686 (GRCh38)
2:242626101 (GRCh37)
Canonical SPDI:: NC_000002.12:241686685:G:A
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.241686686G>A, NC_000002.11:g.242626101G>A, NM_012145.4:c.98C>T, NM_012145.3:c.98C>T, NM_001320905.2:c.98C>T, NM_001320905.1:c.98C>T, NR_135492.2:n.130C>T, NR_135492.1:n.283C>T, NM_001320904.2:c.98C>T, NM_001320904.1:c.98C>T, NM_001165031.2:c.98C>T, NM_001165031.1:c.98C>T, NR_033255.2:n.130C>T, NR_033255.1:n.283C>T, NM_001320902.2:c.98C>T, NM_001320902.1:c.98C>T, NM_001320903.2:c.98C>T, NM_001320903.1:c.98C>T, NP_036277.2:p.Ala33Val, NP_001307834.1:p.Ala33Val, NP_001307833.1:p.Ala33Val, NP_001158503.1:p.Ala33Val, NP_001307831.1:p.Ala33Val, NP_001307832.1:p.Ala33Val

Select item 144097209517.

rs1440972095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:241676135 (GRCh38)
2:242615550 (GRCh37)
Canonical SPDI:: NC_000002.12:241676134:A:G
Gene:: DTYMK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241676135A>G, NC_000002.11:g.242615550A>G, NM_012145.4:c.631T>C, NM_012145.3:c.631T>C, NM_001320905.2:c.748T>C, NM_001320905.1:c.748T>C, NR_135492.2:n.625T>C, NR_135492.1:n.778T>C, NM_001320904.2:c.574T>C, NM_001320904.1:c.574T>C, NM_001165031.2:c.559T>C, NM_001165031.1:c.559T>C, NR_033255.2:n.572T>C, NR_033255.1:n.725T>C, NM_001320902.2:c.502T>C, NM_001320902.1:c.502T>C, NM_001320903.2:c.*126T>C, NM_001320903.1:c.*126T>C, NP_036277.2:p.Trp211Arg, NP_001307834.1:p.Trp250Arg, NP_001307833.1:p.Trp192Arg, NP_001158503.1:p.Trp187Arg, NP_001307831.1:p.Trp168Arg

Select item 143667940618.

rs1436679406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241686666 (GRCh38)
2:242626081 (GRCh37)
Canonical SPDI:: NC_000002.12:241686665:G:A
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_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.241686666G>A, NC_000002.11:g.242626081G>A, NM_012145.4:c.118C>T, NM_012145.3:c.118C>T, NM_001320905.2:c.118C>T, NM_001320905.1:c.118C>T, NR_135492.2:n.150C>T, NR_135492.1:n.303C>T, NM_001320904.2:c.118C>T, NM_001320904.1:c.118C>T, NM_001165031.2:c.118C>T, NM_001165031.1:c.118C>T, NR_033255.2:n.150C>T, NR_033255.1:n.303C>T, NM_001320902.2:c.118C>T, NM_001320902.1:c.118C>T, NM_001320903.2:c.118C>T, NM_001320903.1:c.118C>T, NP_036277.2:p.Leu40Phe, NP_001307834.1:p.Leu40Phe, NP_001307833.1:p.Leu40Phe, NP_001158503.1:p.Leu40Phe, NP_001307831.1:p.Leu40Phe, NP_001307832.1:p.Leu40Phe

Select item 142812647219.

rs1428126472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241685854 (GRCh38)
2:242625269 (GRCh37)
Canonical SPDI:: NC_000002.12:241685853:G:A
Gene:: DTYMK (Varview), ING5 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241685854G>A, NC_000002.11:g.242625269G>A, NM_012145.4:c.154C>T, NM_012145.3:c.154C>T, NM_001320905.2:c.154C>T, NM_001320905.1:c.154C>T, NR_135492.2:n.186C>T, NR_135492.1:n.339C>T, NM_001320904.2:c.154C>T, NM_001320904.1:c.154C>T, NM_001165031.2:c.154C>T, NM_001165031.1:c.154C>T, NR_033255.2:n.186C>T, NR_033255.1:n.339C>T, NM_001320902.2:c.154C>T, NM_001320902.1:c.154C>T, NM_001320903.2:c.154C>T, NM_001320903.1:c.154C>T, NP_036277.2:p.Leu52Phe, NP_001307834.1:p.Leu52Phe, NP_001307833.1:p.Leu52Phe, NP_001158503.1:p.Leu52Phe, NP_001307831.1:p.Leu52Phe, NP_001307832.1:p.Leu52Phe

Select item 142553655820.

rs1425536558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:241676202 (GRCh38)
2:242615617 (GRCh37)
Canonical SPDI:: NC_000002.12:241676201:A:G
Gene:: DTYMK (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_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_000002.12:g.241676202A>G, NC_000002.11:g.242615617A>G, NM_012145.4:c.564T>C, NM_012145.3:c.564T>C, NM_001320905.2:c.681T>C, NM_001320905.1:c.681T>C, NR_135492.2:n.558T>C, NR_135492.1:n.711T>C, NM_001320904.2:c.507T>C, NM_001320904.1:c.507T>C, NM_001165031.2:c.492T>C, NM_001165031.1:c.492T>C, NR_033255.2:n.505T>C, NR_033255.1:n.658T>C, NM_001320902.2:c.435T>C, NM_001320902.1:c.435T>C, NM_001320903.2:c.*59T>C, NM_001320903.1:c.*59T>C

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