Product Details

SNP ID

rs34377353

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:126203652 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCTTCTTCAGGGTGCCCACAGA[C/T]AGCTTCTATACAAAGAAAGGACAGA

Phenotype

MIM: 616587

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM118B PubMed Links

Gene Details

Gene

FAM118B

Gene Name

family with sequence similarity 118 member B

There are no transcripts associated with this gene.

Gene

RPUSD4

Gene Name

RNA pseudouridylate synthase domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144827.1	951	Silent Mutation	CTA,CTG	L269L	NP_001138299.1
NM_032795.2	951	Silent Mutation	CTA,CTG	L300L	NP_116184.2
XM_011543039.2	951	Silent Mutation	CTA,CTG	L107L	XP_011541341.1

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