Product Details

SNP ID

rs202121996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135938348 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGGAGAGGGCTTCCGGTCCCCCA[C/G]CAGCCACTCGCACTGCAAAGCCAAG

Phenotype

MIM: 608129

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

UBAC1 PubMed Links

Gene Details

Gene

UBAC1

Gene Name

UBA domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016172.2	1194	Missense Mutation	CTG,GTG	L326V	NP_057256.2

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