SNP Links for Protein (Select 5729734) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:87878140 (GRCh38)
7:87507455 (GRCh37)
Canonical SPDI:: NC_000007.14:87878139:C:T
Gene:: DBF4 (Varview), SLC25A40 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.87878140C>T, NC_000007.13:g.87507455C>T, NM_006716.4:c.134C>T, NM_006716.3:c.134C>T, NM_001318062.2:c.-586C>T, NM_001318062.1:c.-586C>T, NM_001318060.2:c.-459C>T, NM_001318060.1:c.-459C>T, NP_006707.1:p.Pro45Leu

Select item 147344749714.

rs1473447497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:87900307 (GRCh38)
7:87529622 (GRCh37)
Canonical SPDI:: NC_000007.14:87900306:A:T
Gene:: DBF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87900307A>T, NC_000007.13:g.87529622A>T, NM_006716.4:c.767A>T, NM_006716.3:c.767A>T, NM_001318062.2:c.-14A>T, NM_001318062.1:c.-14A>T, NM_001318061.2:c.95A>T, NM_001318061.1:c.95A>T, NM_001318060.2:c.68A>T, NM_001318060.1:c.68A>T, NP_006707.1:p.Asp256Val, NP_001304990.1:p.Asp32Val, NP_001304989.1:p.Asp23Val

Select item 147065462715.

rs1470654627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:87876774 (GRCh38)
7:87506089 (GRCh37)
Canonical SPDI:: NC_000007.14:87876773:C:G
Gene:: DBF4 (Varview), SLC25A40 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87876774C>G, NC_000007.13:g.87506089C>G, NG_046351.1:g.825C>G, NM_006716.4:c.42C>G, NM_006716.3:c.42C>G, NM_001318062.2:c.-678C>G, NM_001318062.1:c.-678C>G, NM_001318061.2:c.-539C>G, NM_001318061.1:c.-539C>G, NM_001318060.2:c.-551C>G, NM_001318060.1:c.-551C>G, NP_006707.1:p.Phe14Leu

Select item 146948478516.

rs1469484785 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAATAA>- [Show Flanks]
Chromosome:: 7:87907742 (GRCh38)
7:87537057 (GRCh37)
Canonical SPDI:: NC_000007.14:87907737:ATAACAATAA:ATAA
Gene:: DBF4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87907742_87907747del, NC_000007.13:g.87537057_87537062del, NM_006716.4:c.1604_1609del, NM_006716.3:c.1604_1609del, NM_001318062.2:c.824_829del, NM_001318062.1:c.824_829del, NM_001318061.2:c.932_937del, NM_001318061.1:c.932_937del, NM_001318060.2:c.905_910del, NM_001318060.1:c.905_910del, NP_006707.1:p.Thr535_Ile536del, NP_001304991.1:p.Thr275_Ile276del, NP_001304990.1:p.Thr311_Ile312del, NP_001304989.1:p.Thr302_Ile303del

Select item 146815526317.

rs1468155263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:87908100 (GRCh38)
7:87537415 (GRCh37)
Canonical SPDI:: NC_000007.14:87908099:T:C
Gene:: DBF4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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=0.000071/1 (TOMMO)
C=0.001027/3 (KOREAN)
HGVS:: NC_000007.14:g.87908100T>C, NC_000007.13:g.87537415T>C, NM_006716.4:c.1962T>C, NM_006716.3:c.1962T>C, NM_001318062.2:c.1182T>C, NM_001318062.1:c.1182T>C, NM_001318061.2:c.1290T>C, NM_001318061.1:c.1290T>C, NM_001318060.2:c.1263T>C, NM_001318060.1:c.1263T>C

Select item 146365754618.

rs1463657546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:87907332 (GRCh38)
7:87536647 (GRCh37)
Canonical SPDI:: NC_000007.14:87907331:G:C,NC_000007.14:87907331:G:T
Gene:: DBF4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.87907332G>C, NC_000007.14:g.87907332G>T, NC_000007.13:g.87536647G>C, NC_000007.13:g.87536647G>T, NM_006716.4:c.1194G>C, NM_006716.4:c.1194G>T, NM_006716.3:c.1194G>C, NM_006716.3:c.1194G>T, NM_001318062.2:c.414G>C, NM_001318062.2:c.414G>T, NM_001318062.1:c.414G>C, NM_001318062.1:c.414G>T, NM_001318061.2:c.522G>C, NM_001318061.2:c.522G>T, NM_001318061.1:c.522G>C, NM_001318061.1:c.522G>T, NM_001318060.2:c.495G>C, NM_001318060.2:c.495G>T, NM_001318060.1:c.495G>C, NM_001318060.1:c.495G>T

Select item 146320972319.

rs1463209723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:87907767 (GRCh38)
7:87537082 (GRCh37)
Canonical SPDI:: NC_000007.14:87907766:A:G
Gene:: DBF4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87907767A>G, NC_000007.13:g.87537082A>G, NM_006716.4:c.1629A>G, NM_006716.3:c.1629A>G, NM_001318062.2:c.849A>G, NM_001318062.1:c.849A>G, NM_001318061.2:c.957A>G, NM_001318061.1:c.957A>G, NM_001318060.2:c.930A>G, NM_001318060.1:c.930A>G

Select item 146309879320.

rs1463098793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:87904340 (GRCh38)
7:87533655 (GRCh37)
Canonical SPDI:: NC_000007.14:87904339:C:T
Gene:: DBF4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87904340C>T, NC_000007.13:g.87533655C>T, NM_006716.4:c.973C>T, NM_006716.3:c.973C>T, NM_001318062.2:c.193C>T, NM_001318062.1:c.193C>T, NM_001318061.2:c.301C>T, NM_001318061.1:c.301C>T, NM_001318060.2:c.274C>T, NM_001318060.1:c.274C>T, NP_006707.1:p.Gln325Ter, NP_001304991.1:p.Gln65Ter, NP_001304990.1:p.Gln101Ter, NP_001304989.1:p.Gln92Ter

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