Product Details

SNP ID

rs139411224

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:69109615 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCACCGGCGCATGCGACGTGCC[A/G]GCCAGGCCCTGAAGCTGCCCTCCCC

Phenotype

MIM: 613202 MIM: 602428

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CHTF8 PubMed Links

Additional Information

For this assay, SNP(s) [rs2232228] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	311	Missense Mutation	AGC,GGC	S74G	NP_001186209.1
NM_005329.2	311	Missense Mutation	AGC,GGC	S74G	NP_005320.2
NM_138612.2	311	Missense Mutation	AGC,GGC	S74G	NP_619515.1
XM_005255921.2	311	Missense Mutation	AGC,GGC	S74G	XP_005255978.1
XM_011523061.2	311	Missense Mutation	AGC,GGC	S74G	XP_011521363.1

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