Product Details

SNP ID

rs143166329

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12899117 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTTAATAAACTGTGGGGCTGGGG[C/G]TGGGGAGAACTTGCCAAGGGTGGGG

Phenotype

MIM: 608801 MIM: 611487

Polymorphism

C/G, 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	896	Intron			NP_000150.1
NM_013976.3	896	Intron			NP_039663.1
XM_006722721.2	896	Intron			XP_006722784.1
XM_011527899.2	896	Intron			XP_011526201.1
XM_011527900.2	896	Intron			XP_011526202.1
XM_017026580.1	896	Intron			XP_016882069.1

Gene

SYCE2

Gene Name

synaptonemal complex central element protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105578.1	896	UTR 3			NP_001099048.1
XM_005259848.4	896	UTR 3			XP_005259905.1
XM_011527882.2	896	UTR 3			XP_011526184.1
XM_011527883.2	896	UTR 3			XP_011526185.1

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