Kx > XK
| Quick Filter: | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
| c.246-1G>A | Intron 1 | chrX:None | chrX:37694285 | ||||||
| c.-272_119del | Intron 5 | chrX:None | chrX:37685690 | ||||||
| c.121T>G | p.Leu41Val | Exon 1 | chrX:None | chrX:37686082 | |||||
| c.1124G>C | p.Arg375Pro | Exon 3 | chrX:None | chrX:37728251 | |||||
| c.1134C>G | p.Asn378Lys | Exon 3 | chrX:None | chrX:37728261 | |||||
| c.962A>G | p.Tyr321Cys | Exon 3 | chrX:None | chrX:37728089 | |||||
| c.523insA | p.Ile175Asnfs*24 | Exon 3 | chrX:None | chrX:None | |||||
| c.154C>T | p.Gln52* | Exon 1 | chrX:None | chrX:37686115 | |||||
| c.669-673delTGTAGinsGGTCCTCTTTACC | p.Val225Leufs*12 | Exon 3 | chrX:None | chrX:37727123 | |||||
| c.1013delT | p.Phe338Serfs*70 | Exon 3 | chrX:None | chrX:37728140 | rs1602159120 | ||||
| c.642G>A | p.Trp214* | Exon 3 | chrX:None | chrX:37727769 | |||||
| c.979G>A | p.Glu327Lys | Exon 3 | chrX:None | chrX:37728106 | |||||
| c.941G>A | p.Trp314* | Exon 3 | chrX:None | chrX:37728068 | rs104894953 | ||||
| c.938_951del | p.Asn313Thrfs*24 | Exon 3 | chrX:None | chrX:37728065 | |||||
| c.895C>T | p.Gln299* | Exon 3 | chrX:None | chrX:37728022 | rs104894954 | ||||
| c.880T>C | p.Cys294Arg | Exon 3 | chrX:None | chrX:37728007 | rs28933690 | ||||
| c.856_860delCTCTA | p.Leu286Tyrfs*16 | Exon 3 | chrX:None | chrX:37727983 | |||||
| c.771delG | p.Trp257Cysfs*11 | Exon 3 | chrX:None | chrX:37727898 | |||||
| c.707G>A | p.Trp236* | Exon 3 | chrX:None | chrX:37727834 | |||||
| c.686_687delTT | p.Phe229Tyrfs*36 | Exon 3 | chrX:None | chrX:37727813 | |||||
| c.664C>G | p.Arg222Gly | Exon 3 | chrX:None | chrX:37727791 | |||||
| c.450_451insC | p.Gln151Profs*48 | Exon 2 + 3 | chrX:None | chrX:37694490 | |||||
| c.397C>T | p.Arg133* | Exon 2 | chrX:None | chrX:37694437 | |||||
| c.269delA | p.Tyr90Serfs*40 | Exon 2 | chrX:None | chrX:37694309 | |||||
| c.172delG | p.Val58Tyrfs*72 | Exon 1 + 2 | chrX:None | chrX:37686133 | |||||
| c.107G>A | p.Trp36* | Exon 1 | chrX:None | chrX:37686068 | |||||
| c.463C>T | p.Gln155* | Exon 2 | chrX:None | chrX:37694503 | |||||
| c.268delT | p.Tyr90Thrfs*40 | Exon 2 | chrX:None | chrX:37694308 | |||||
| c.195-198delCCGC | p.Pro67Serfs*62 | Exon 1 | chrX:None | chrX:37685958 | |||||
| c.640_645delTGGAGG | p.Trp213_Arg214del | Exon 3 | chrX:None | chrX:37727767 | |||||
| c.475delA | p.Ser159Valfs*15 | Exon 2 + 3 | chrX:None | chrX:37694515 | |||||
| c.1015A>T | p.Lys339* | Exon 3 | chrX:None | chrX:37728142 | |||||
| c.452A>C | p.Gln151Pro | Exon 2 | chrX:None | chrX:37694492 | |||||
| c.82insC | p.Tyr28Leufs*58 | Exon 1 | chrX:None | chrX:None | |||||
| c.942G>A | p.Trp314* | Exon 3 | chrX:None | chrX:37728069 | |||||
| c.577A>T | p.Lys193* | Exon 3 | chrX:None | chrX:37727704 | |||||
| c.509-13C>G | Intron 3 | chrX:None | chrX:37727623 | ||||||
| c.509-2A>G | Intron 3 | chrX:None | chrX:37727634 | ||||||
| c.229delC | p.Leu80Phefs*50 | Exon 1 + 2 | chrX:None | chrX:37686190 | |||||
| c.435delC | p.Leu146Trpfs*7 | Exon 2 | chrX:None | chrX:37694475 | |||||
| c.508+5G>A | Intron 2 | chrX:None | chrX:37694553 | rs534318896 | |||||
| c.245+1G>C | Intron 1 | chrX:None | chrX:37686207 | ||||||
| c.509-1G>A | Intron 2 | chrX:None | chrX:37727635 | rs1602158863 | |||||
| c.508+1G>A | Intron 2 | chrX:None | chrX:37694549 | rs1602145991 | |||||
| Membrane transport protein XK (Kell complex 37 kDa component) (Kx antigen) (XK-related protein 1) | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chromosome: | chrX | ||||||||||||||||||||
| Strand: | + | ||||||||||||||||||||
| Genomic ref.: | NG_007473.3 | ||||||||||||||||||||
| Transcript ref.: | NM_021083.4 | ||||||||||||||||||||
| Protein ref.: | NP_066569.1 | ||||||||||||||||||||
| Entrez GeneID: | 7504 | ||||||||||||||||||||
| Uniprot ID: | P51811 | ||||||||||||||||||||
| Further links: | GTEx Portal, gnomAD | ||||||||||||||||||||
| hg19: |
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| hg38: |
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