Product Details

SNP ID

rs146336700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:151404946 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGGATGTCCAATAGGGACAGCT[A/G]TTTTTACGCTGCTATTGTTGCAGTG

Phenotype

MIM: 300913

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

VMA21 PubMed Links

Gene Details

Gene

VMA21

Gene Name

VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017980.3	644	Missense Mutation	TAT,TGT	Y65C	NP_001017980.1
XM_011531125.2	644	Missense Mutation	TAT,TGT	Y120C	XP_011529427.1

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