Transcript #00000011

Transcript name transcript variant 1
Gene name ABCA12 (ATP-binding cassette, sub-family A (ABC1), member 12)
Chromosome 2
Transcript - NCBI ID NM_173076.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_775099.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     
?/? c.-5041G>T r.(=) p.(=) utr-5
?/? c.-5001A>C r.(=) p.(=) utr-5
?/? c.-4909A>G r.(=) p.(=) utr-5
?/? c.-4714A>T r.(=) p.(=) utr-5
?/? c.-3018C>T r.(=) p.(=) utr-5
?/? c.-2031T>G r.(=) p.(=) utr-5
?/? c.-1003G>A r.(=) p.(=) utr-5
?/? c.-881T>C r.(=) p.(=) utr-5
?/? c.-476A>G r.(=) p.(=) utr-5
?/? c.164-30C>G r.(=) p.(=) intron
?/? c.2329T>A r.(?) p.(Ser777Thr) missense
?/? c.3033A>G r.(?) p.(=) coding-synonymous
?/? c.3294+36C>T r.(=) p.(=) intron
?/? c.3295-25C>T r.(=) p.(=) intron
?/? c.4163+20T>C r.(=) p.(=) intron
?/? c.5778+29T>C r.(=) p.(=) intron
?/? c.6306C>T r.(?) p.(=) coding-synonymous
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