Product Details

SNP ID

rs4682833

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:46981725 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTAAAGGGGGCTTAAACCAGCTG[A/G]TGAGTGTGAGGGATGTTAATGATAG

Phenotype

MIM: 614169

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC12 PubMed Links

Gene Details

Gene

CCDC12

Gene Name

coiled-coil domain containing 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277074.1		Intron			NP_001264003.1
NM_144716.5		Intron			NP_653317.2
XM_011533390.2		Intron			XP_011531692.1
XM_011533391.2		Intron			XP_011531693.1
XM_011533392.2		Intron			XP_011531694.1
XM_011533393.2		Intron			XP_011531695.1
XM_011533394.2		Intron			XP_011531696.1
XM_011533396.2		Intron			XP_011531698.1

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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