Product Details

SNP ID

rs149855008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:93721539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTGCCATTTTCGTCTTTTCTCA[G/T]TGGTTTCCTGGAAGTGGGGGGAGGG

Phenotype

MIM: 613851

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PRIMA1 PubMed Links

Gene Details

Gene

PRIMA1

Gene Name

proline rich membrane anchor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178013.3	409	Missense Mutation	ATG,CTG	M123L	NP_821092.1
XM_011536456.2	409	Missense Mutation	ATG,CTG	M123L	XP_011534758.1

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