Product Details

SNP ID

rs200421583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:717185 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACCGCCGCTGTTCCAGGCGGGGC[A/G]ATCCGGGGACCAGGGGCTGACCTCC

Phenotype

MIM: 614666 MIM: 610998

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC78 PubMed Links

Gene Details

Gene

CCDC78

Gene Name

coiled-coil domain containing 78

There are no transcripts associated with this gene.

Gene

FAM173A

Gene Name

family with sequence similarity 173 member A

There are no transcripts associated with this gene.

Gene

HAGHL

Gene Name

hydroxyacylglutathione hydrolase-like

There are no transcripts associated with this gene.

Gene

METRN

Gene Name

meteorin, glial cell differentiation regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024042.3	797	Missense Mutation	CAA,CGA	Q227R	NP_076947.1

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