Product Details

SNP ID

rs145274212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:48904968 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGACAAGCTGGCCAAGGAGGAAC[A/G]CAACAGTGCTCTGAACCTTAATAAG

Phenotype

MIM: 611088

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC65 PubMed Links

Gene Details

Gene

CCDC65

Gene Name

coiled-coil domain containing 65

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286957.1	382	UTR 5			NP_001273886.1
NM_033124.4	382	Missense Mutation	CAC,CGC	H52R	NP_149115.2

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