Product Details

SNP ID

rs148153593

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:48905076 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACATTGAGATCCTCAGCCAAACAT[C/T]TGAACGAGTGGTGGACTGTAAGGAC

Phenotype

MIM: 611088

Polymorphism

C/T, 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	490	UTR 5			NP_001273886.1
NM_033124.4	490	Missense Mutation	TCT,TTT	S88F	NP_149115.2

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