Full data view for gene KIF5A

Information The variants shown are described using the NM_004984.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

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Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.129+994C>T - - Unknown g.57551394C>T - KIF5A_000001 rs2054515 0.1029 48 11 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.129+1676C>T - - Unknown g.57552076C>T - KIF5A_000002 rs1148551 0.1809 111 6 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1717-153C>G - - Unknown g.57574931C>G - KIF5A_000003 rs1678542 0.6059 159 126 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1717-130C>T r.(=) p.(=) Unknown g.57574954C>T - KIF5A_000004 rs11172254 0.5529 163 106 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2539-784A>G - - Unknown g.57580172A>G - KIF5A_000005 rs41401546 0.9397 35 301 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2539-750C>T - - Unknown g.57580206C>T - KIF5A_000006 rs775244 0.0706 44 2 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2910-84A>G - - Unknown g.57581786A>G - KIF5A_000007 rs775247 0.8632 57 264 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3020+234C>G - - Unknown g.57582863C>G - KIF5A_000008 rs2888334 0.7015 136 170 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*36+41G>T - - Unknown g.57583256G>T - KIF5A_000009 rs775250 0.2471 118 25 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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