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IKMB: Blood Group DB

MAM > EMP3


Genetic changes
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nt change aa change Location hg19 hg38 rsNum
c.1-3532_492+1361del p.Met1_Ter164del Exon 1-5 chr19:48826570 chr19:48323313
c.1-3513_492+1379del p.Met1_Ter164del Exon 1-5 chr19:48826589 chr19:48323332
c.123C>G p.Tyr41* Exon 3 chr19:48830822 chr19:48327565 rs201392469
c.182-186_322+418del p.Trp62_Ser108del Exon 4 chr19:48832423 chr19:48329166
c.323-231_492+338del p.Val109_Ter164del Exon 5 chr19:48833327 chr19:48330070
c.373A>G p.Ile125Val Exon 5 chr19:48833608 chr19:48330351 rs4893

epithelial membrane protein 3
Chromosome:chr19
Strand:+
Genomic ref.:NC_000019.10
Transcript ref.:NM_001425.3
Protein ref.: NP_001300834.1 NP_001416.1 XP_011524907.1
Entrez GeneID:2014
Uniprot ID:P54852
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
5 48828808 48833810 48830101 48833727
hg38:
ExonsStartEndCDS StartCDS End
5 48325551 48330553 48326844 48330470
Exon hg19 start hg19 end hg38 start hg38 end
1 48828808 48828867 48325551 48325610
2 48830086 48830179 48326829 48326922
3 48830777 48830880 48327520 48327623
4 48832608 48832749 48329351 48329492
5 48833557 48833810 48330300 48330553