Product Details

SNP ID

rs199605221

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75540154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCACCCAGGCGAACTTTACCATC[G/T]CCCAGAATCCTGGCTGATAAGTATG

Phenotype

MIM: 604817 MIM: 614949

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

CHST5 PubMed Links

Additional Information

For this assay, SNP(s) [rs2242406] 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

CHST5

Gene Name

carbohydrate sulfotransferase 5

There are no transcripts associated with this gene.

Gene

TMEM231

Gene Name

transmembrane protein 231

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077416.2	965	Missense Mutation	GAG,GCG	E317A	NP_001070884.2
NM_001077418.2	965	Missense Mutation	GAG,GCG	E264A	NP_001070886.1

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