Product Details

SNP ID

rs75334886

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12907134 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTGAGTCACAGCTAACTTTTCC[C/T]CAGCCATGTTCCCGGCACTGAGCTA

Phenotype

MIM: 608801 MIM: 611487

Polymorphism

C/T, Transition 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		Intron			NP_000150.1
NM_013976.3		Intron			NP_039663.1
XM_006722721.2		Intron			XP_006722784.1
XM_011527899.2		Intron			XP_011526201.1
XM_011527900.2		Intron			XP_011526202.1
XM_017026580.1		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		Intron			NP_001099048.1
XM_005259848.4		Intron			XP_005259905.1
XM_011527882.2		Intron			XP_011526184.1
XM_011527883.2		Intron			XP_011526185.1

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