Product Details

SNP ID

rs150420478

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:22924339 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCCGGTCGGCCTGCTTGGCTGCC[C/T]GCAGGGAAGCGTTCACCAGGGGTCC

Phenotype

MIM: 604045

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC101926933 PubMed Links

Gene Details

Gene

LOC101926933

Gene Name

uncharacterized LOC101926933

There are no transcripts associated with this gene.

Gene

PRMT5

Gene Name

protein arginine methyltransferase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039619.2	977	Missense Mutation	CAG,CGG	Q360R	NP_001034708.1
NM_001282953.1	977	Missense Mutation	CAG,CGG	Q316R	NP_001269882.1
NM_001282954.1	977	Missense Mutation	CAG,CGG	Q271R	NP_001269883.1
NM_001282955.1	977	Missense Mutation	CAG,CGG	Q333R	NP_001269884.1
NM_001282956.1	977	Missense Mutation	CAG,CGG	Q206R	NP_001269885.1
NM_006109.4	977	Missense Mutation	CAG,CGG	Q377R	NP_006100.2
XM_017020927.1	977	Missense Mutation	CAG,CGG	Q271R	XP_016876416.1

Gene

PRMT5-AS1

Gene Name

PRMT5 antisense RNA 1

There are no transcripts associated with this gene.

Gene

RBM23

Gene Name

RNA binding motif protein 23

There are no transcripts associated with this gene.

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