Product Details

SNP ID

rs199794444

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:235131878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTAGGTTTACTGACATTCTTCAA[C/T]CGTGGATTTGAATTTTGTTGTTTAA

Phenotype

MIM: 601848

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RBM34 PubMed Links

Gene Details

Gene

RBM34

Gene Name

RNA binding motif protein 34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161533.1	1458	Intron			NP_001155005.1
NM_015014.2	1458	Silent Mutation	CGA,CGG	R376R	NP_055829.2
XM_011544133.1	1458	Silent Mutation	CGA,CGG	R356R	XP_011542435.1
XM_017000721.1	1458	Silent Mutation	CGA,CGG	R375R	XP_016856210.1

Gene

SNORA14B

Gene Name

small nucleolar RNA, H/ACA box 14B

There are no transcripts associated with this gene.

Gene

TOMM20

Gene Name

translocase of outer mitochondrial membrane 20

There are no transcripts associated with this gene.

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