Product Details

SNP ID

rs144616976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55644626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCTGGCATTTTCCTCCGTTGAG[A/C]CCATGGAGGGCCCTCCCCGTCGGAC

Phenotype

MIM: 613478 MIM: 191318

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCDC106 PubMed Links

Gene Details

Gene

CCDC106

Gene Name

coiled-coil domain containing 106

There are no transcripts associated with this gene.

Gene

LOC107983998

Gene Name

uncharacterized LOC107983998

There are no transcripts associated with this gene.

Gene

U2AF2

Gene Name

U2 small nuclear RNA auxiliary factor 2

There are no transcripts associated with this gene.

Gene

ZNF580

Gene Name

zinc finger protein 580

There are no transcripts associated with this gene.

Gene

ZNF581

Gene Name

zinc finger protein 581

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016535.3	229	Missense Mutation	ACC,CCC	T19P	NP_057619.1
XM_006723240.3	229	Missense Mutation	ACC,CCC	T19P	XP_006723303.1
XM_017026867.1	229	Missense Mutation	ACC,CCC	T19P	XP_016882356.1

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