SNP Links for Protein (Select 150456471) - SNP

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Links from Protein

Items: 1 to 20 of 412

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Select item 14859865891.

rs1485986589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:32215815 (GRCh38)
1:32681416 (GRCh37)
Canonical SPDI:: NC_000001.11:32215814:T:C,NC_000001.11:32215814:T:G
Gene:: TMEM234 (Varview), DCDC2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.32215815T>C, NC_000001.11:g.32215815T>G, NC_000001.10:g.32681416T>C, NC_000001.10:g.32681416T>G, NG_082010.1:g.171T>C, NG_082010.1:g.171T>G, NM_001099434.2:c.968T>C, NM_001099434.2:c.968T>G, NM_001099434.1:c.968T>C, NM_001099434.1:c.968T>G, XM_047425483.1:c.*595A>G, XM_047425483.1:c.*595A>C, XM_047425479.1:c.*493A>G, XM_047425479.1:c.*493A>C, NP_001092904.1:p.Ile323Thr, NP_001092904.1:p.Ile323Arg

Select item 14827780252.

rs1482778025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32209236 (GRCh38)
1:32674837 (GRCh37)
Canonical SPDI:: NC_000001.11:32209235:A:G
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32209236A>G, NC_000001.10:g.32674837A>G, NM_001099434.2:c.143A>G, NM_001099434.1:c.143A>G, NP_001092904.1:p.Gln48Arg

Select item 14818732403.

rs1481873240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32212779 (GRCh38)
1:32678380 (GRCh37)
Canonical SPDI:: NC_000001.11:32212778:C:T
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.32212779C>T, NC_000001.10:g.32678380C>T, NM_001099434.2:c.700C>T, NM_001099434.1:c.700C>T, NP_001092904.1:p.Pro234Ser

Select item 14784560684.

rs1478456068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32209259 (GRCh38)
1:32674860 (GRCh37)
Canonical SPDI:: NC_000001.11:32209258:C:T
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32209259C>T, NC_000001.10:g.32674860C>T, NM_001099434.2:c.166C>T, NM_001099434.1:c.166C>T, NP_001092904.1:p.Leu56Phe

Select item 14758307005.

rs1475830700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32212071 (GRCh38)
1:32677672 (GRCh37)
Canonical SPDI:: NC_000001.11:32212070:G:A
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32212071G>A, NC_000001.10:g.32677672G>A, NM_001099434.2:c.397G>A, NM_001099434.1:c.397G>A, NP_001092904.1:p.Val133Met

Select item 14738590076.

rs1473859007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32211312 (GRCh38)
1:32676913 (GRCh37)
Canonical SPDI:: NC_000001.11:32211311:T:C
Gene:: DCDC2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.32211312T>C, NC_000001.10:g.32676913T>C, NM_001099434.2:c.307T>C, NM_001099434.1:c.307T>C, NP_001092904.1:p.Cys103Arg

Select item 14722010957.

rs1472201095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32209161 (GRCh38)
1:32674762 (GRCh37)
Canonical SPDI:: NC_000001.11:32209160:G:A
Gene:: IQCC (Varview), DCDC2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_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_000001.11:g.32209161G>A, NC_000001.10:g.32674762G>A, NM_001099434.2:c.68G>A, NM_001099434.1:c.68G>A, NP_001092904.1:p.Gly23Asp

Select item 14721245948.

rs1472124594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:32214823 (GRCh38)
1:32680424 (GRCh37)
Canonical SPDI:: NC_000001.11:32214822:C:G
Gene:: TMEM234 (Varview), DCDC2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32214823C>G, NC_000001.10:g.32680424C>G, NR_133636.2:n.1212G>C, NR_133636.1:n.1230G>C, NR_133635.2:n.1071G>C, NR_133635.1:n.1089G>C, NM_001099434.2:c.741C>G, NM_001099434.1:c.741C>G, XM_017001816.2:c.*379G>C, XM_017001816.1:c.*379G>C, XM_047425483.1:c.*1501G>C, XM_047425479.1:c.*1399G>C

Select item 14703840269.

rs1470384026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32209256 (GRCh38)
1:32674857 (GRCh37)
Canonical SPDI:: NC_000001.11:32209255:G:A
Gene:: DCDC2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32209256G>A, NC_000001.10:g.32674857G>A, NM_001099434.2:c.163G>A, NM_001099434.1:c.163G>A, NP_001092904.1:p.Ala55Thr

Select item 145526555310.

rs1455265553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32209276 (GRCh38)
1:32674877 (GRCh37)
Canonical SPDI:: NC_000001.11:32209275:T:C
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.32209276T>C, NC_000001.10:g.32674877T>C, NM_001099434.2:c.183T>C, NM_001099434.1:c.183T>C

Select item 145398872411.

rs1453988724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32215440 (GRCh38)
1:32681041 (GRCh37)
Canonical SPDI:: NC_000001.11:32215439:G:A
Gene:: TMEM234 (Varview), DCDC2B (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32215440G>A, NC_000001.10:g.32681041G>A, NM_001099434.2:c.851G>A, NM_001099434.1:c.851G>A, XM_047425483.1:c.*970C>T, XM_047425479.1:c.*868C>T, NP_001092904.1:p.Gly284Glu

Select item 145049786812.

rs1450497868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32215887 (GRCh38)
1:32681488 (GRCh37)
Canonical SPDI:: NC_000001.11:32215886:T:C
Gene:: TMEM234 (Varview), DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.32215887T>C, NC_000001.10:g.32681488T>C, NG_082010.1:g.243T>C, NM_001099434.2:c.1040T>C, NM_001099434.1:c.1040T>C, XM_047425483.1:c.*523A>G, XM_047425479.1:c.*421A>G, NP_001092904.1:p.Leu347Pro

Select item 144800530213.

rs1448005302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:32212195 (GRCh38)
1:32677796 (GRCh37)
Canonical SPDI:: NC_000001.11:32212194:T:G
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.32212195T>G, NC_000001.10:g.32677796T>G, NM_001099434.2:c.521T>G, NM_001099434.1:c.521T>G, NP_001092904.1:p.Val174Gly

Select item 144782254414.

rs1447822544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32212086 (GRCh38)
1:32677687 (GRCh37)
Canonical SPDI:: NC_000001.11:32212085:G:A
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32212086G>A, NC_000001.10:g.32677687G>A, NM_001099434.2:c.412G>A, NM_001099434.1:c.412G>A, NP_001092904.1:p.Asp138Asn

Select item 144683467515.

rs1446834675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32212129 (GRCh38)
1:32677730 (GRCh37)
Canonical SPDI:: NC_000001.11:32212128:C:T
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32212129C>T, NC_000001.10:g.32677730C>T, NM_001099434.2:c.455C>T, NM_001099434.1:c.455C>T, NP_001092904.1:p.Ala152Val

Select item 144634498216.

rs1446344982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32215882 (GRCh38)
1:32681483 (GRCh37)
Canonical SPDI:: NC_000001.11:32215881:A:G
Gene:: TMEM234 (Varview), DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32215882A>G, NC_000001.10:g.32681483A>G, NG_082010.1:g.238A>G, NM_001099434.2:c.1035A>G, NM_001099434.1:c.1035A>G, XM_047425483.1:c.*528T>C, XM_047425479.1:c.*426T>C

Select item 144181780117.

rs1441817801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32211302 (GRCh38)
1:32676903 (GRCh37)
Canonical SPDI:: NC_000001.11:32211301:T:C
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32211302T>C, NC_000001.10:g.32676903T>C, NM_001099434.2:c.297T>C, NM_001099434.1:c.297T>C

Select item 143972677718.

rs1439726777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32209138 (GRCh38)
1:32674739 (GRCh37)
Canonical SPDI:: NC_000001.11:32209137:G:A
Gene:: IQCC (Varview), DCDC2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32209138G>A, NC_000001.10:g.32674739G>A, NM_001099434.2:c.45G>A, NM_001099434.1:c.45G>A

Select item 143872086319.

rs1438720863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:32211789 (GRCh38)
1:32677390 (GRCh37)
Canonical SPDI:: NC_000001.11:32211788:A:C
Gene:: DCDC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32211789A>C, NC_000001.10:g.32677390A>C, NM_001099434.2:c.347A>C, NM_001099434.1:c.347A>C, NP_001092904.1:p.Asp116Ala

Select item 143689753720.

rs1436897537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32215830 (GRCh38)
1:32681431 (GRCh37)
Canonical SPDI:: NC_000001.11:32215829:T:C
Gene:: TMEM234 (Varview), DCDC2B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,intron_variant,coding_sequence_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_000001.11:g.32215830T>C, NC_000001.10:g.32681431T>C, NG_082010.1:g.186T>C, NM_001099434.2:c.983T>C, NM_001099434.1:c.983T>C, XM_047425483.1:c.*580A>G, XM_047425479.1:c.*478A>G, NP_001092904.1:p.Leu328Ser