Product Details

SNP ID

rs147173156

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:69109598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCTTTTTGCCTTCCTGGAGCACC[A/G]GCGCATGCGACGTGCCGGCCAGGCC

Phenotype

MIM: 613202 MIM: 602428

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHTF8 PubMed Links

Gene Details

Gene

CHTF8

Gene Name

chromosome transmission fidelity factor 8

There are no transcripts associated with this gene.

Gene

HAS3

Gene Name

hyaluronan synthase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199280.1	294	Missense Mutation	CAG,CGG	Q68R	NP_001186209.1
NM_005329.2	294	Missense Mutation	CAG,CGG	Q68R	NP_005320.2
NM_138612.2	294	Missense Mutation	CAG,CGG	Q68R	NP_619515.1
XM_005255921.2	294	Missense Mutation	CAG,CGG	Q68R	XP_005255978.1
XM_011523061.2	294	Missense Mutation	CAG,CGG	Q68R	XP_011521363.1

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