Product Details

SNP ID

rs11103231

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135933496 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACTGGGTGCTGTTCAGTGGGTT[C/G]TCCAGCATGTCTTCAAATGCTGCAG

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	1340	Missense Mutation	GAC,GAG	D374E	NP_057256.2

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