Product Details

SNP ID

rs4234465

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:46985395 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCAGGCAGCTCAATGATCCCTGTCA[C/G]CTTGGCAAACAAGGTGTACTCCCTG

Phenotype

MIM: 614169

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC12 PubMed Links

Gene Details

Gene

CCDC12

Gene Name

coiled-coil domain containing 12

There are no transcripts associated with this gene.

Gene

NBEAL2

Gene Name

neurobeachin like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015175.2		Intron			NP_055990.1
XM_006713072.3		Intron			XP_006713135.1
XM_011533533.2		Intron			XP_011531835.1
XM_017006010.1		Intron			XP_016861499.1
XM_017006011.1		Intron			XP_016861500.1
XM_017006012.1		Intron			XP_016861501.1
XM_017006013.1		Intron			XP_016861502.1
XM_017006014.1		Intron			XP_016861503.1
XM_017006015.1		Intron			XP_016861504.1
XM_017006016.1		Intron			XP_016861505.1
XM_017006017.1		Intron			XP_016861506.1

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