Product Details

SNP ID
rs78294137
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:138797650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGAATGATGCGTGTTTGTAATTAA[C/G]GCACTTCGACAGCAGGTATCTCCCA
Phenotype
MIM: 605239
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATP6V0A4 PubMed Links

Gene Details

Gene
ATP6V0A4
Gene Name
ATPase H+ transporting V0 subunit a4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020632.2 164 Intron NP_065683.2
NM_130840.2 164 Intron NP_570855.2
NM_130841.2 164 Intron NP_570856.2
XM_005250393.1 164 Intron XP_005250450.1
XM_005250394.3 164 Intron XP_005250451.1
Gene
TMEM213
Gene Name
transmembrane protein 213
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001085429.1 164 Intron NP_001078898.1
XM_005250167.3 164 UTR 5 XP_005250224.1

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