Product Details

SNP ID

rs201770114

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:27338896 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGAATTACCAGAGATGATGACTT[G/T]TGTGGCTGACTTATCACAGGTCTTT

Phenotype

MIM: 612324

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC34 PubMed Links

Gene Details

Gene

CCDC34

Gene Name

coiled-coil domain containing 34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030771.1	1101	Missense Mutation	CAA,CAC	Q349H	NP_110398.1
NM_080654.2	1101	Intron			NP_542385.1

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