View genomic variant #0000000090

Chromosome 1
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) NC_000001.11:g.161306886G>T
Reference -
DB-ID MPZ_000001
dbSNP ID rs121913584
Frequency -
Variant remarks -
IthaID -
Cytogenetic_Location -
Inheritance -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Panayiotis Laouris




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MPZ NM_000530.6 ./. 3 NC_000001.11:g.161306886G>T NM_000530.7:c.270C>A NP_000521.2:p.Asp90Glu