Product Details

SNP ID

hCV27862369

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12892125 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGGTCCCTTTGCAGTTTTTCATC[G/T]GGAGATCATTTCGGAGATGGGGGAG

Phenotype

MIM: 608801 MIM: 600599 MIM: 611487

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GCDH PubMed Links

Gene Details

Gene

GCDH

Gene Name

glutaryl-CoA dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000159.3	389	Missense Mutation	CGG,CTG	R94L	NP_000150.1
NM_013976.3	389	Missense Mutation	CGG,CTG	R94L	NP_039663.1

Gene

KLF1

Gene Name

Kruppel like factor 1

There are no transcripts associated with this gene.

Gene

SYCE2

Gene Name

synaptonemal complex central element protein 2

There are no transcripts associated with this gene.

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