Product Details

SNP ID

rs200443770

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:126211606 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCTTGGCCGTTTCCCCGGATCCA[A/G]GGGCCCGACGCGCTCCACCTGGGCG

Phenotype

MIM: 616587

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM118B PubMed Links

Gene Details

Gene

FAM118B

Gene Name

family with sequence similarity 118 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024556.3	193	Intron			NP_078832.1
XM_005271665.3	193	UTR 5			XP_005271722.1
XM_011542977.2	193	Intron			XP_011541279.1
XM_011542978.2	193	UTR 5			XP_011541280.1
XM_017018285.1	193	Intron			XP_016873774.1
XM_017018286.1	193	UTR 5			XP_016873775.1

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	193	Silent Mutation	CCC,CCT	P11P	NP_001138299.1
NM_032795.2	193	Silent Mutation	CCC,CCT	P11P	NP_116184.2
XM_011543039.2	193	UTR 5			XP_011541341.1

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