Product Details

SNP ID

rs202145162

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30751152 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTTGTGTTCATCGAGCTACTGGC[C/T]ACGAGTTTGCGGTGAAGATTATGGA

Phenotype

MIM: 172471

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC189 PubMed Links

Gene Details

Gene

CCDC189

Gene Name

coiled-coil domain containing 189

There are no transcripts associated with this gene.

Gene

PHKG2

Gene Name

phosphorylase kinase catalytic subunit gamma 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000294.2	352	Missense Mutation	CAC,TAC	H48Y	NP_000285.1
NM_001172432.1	352	Missense Mutation	CAC,TAC	H48Y	NP_001165903.1

Gene

TMEM265

Gene Name

transmembrane protein 265

There are no transcripts associated with this gene.

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