Product Details

SNP ID

rs3751672

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:786149 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCGTAAGGCCTGCACGAGCTGGTCC[A/G]GCGACTGCAGCAGTGTGTGGGGGCT

Phenotype

MIM: 613201

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHTF18 PubMed Links

Gene Details

Gene

CHTF18

Gene Name

chromosome transmission fidelity factor 18

There are no transcripts associated with this gene.

Gene

RPUSD1

Gene Name

RNA pseudouridylate synthase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324086.1	785	Missense Mutation	CCG,CTG	P250L	NP_001311015.1
NM_001324410.1	785	Missense Mutation	CCG,CTG	P121L	NP_001311339.1
NM_001324411.1	785	UTR 3			NP_001311340.1
NM_001324412.1	785	Missense Mutation	CCG,CTG	P118L	NP_001311341.1
NM_001324413.1	785	Missense Mutation	CCG,CTG	P118L	NP_001311342.1
NM_001324414.1	785	Missense Mutation	CCG,CTG	P118L	NP_001311343.1
NM_001324415.1	785	Missense Mutation	CCG,CTG	P118L	NP_001311344.1
NM_058192.2	785	Missense Mutation	CCG,CTG	P247L	NP_478072.1

View Full Product Details