Product Details

SNP ID

rs376949192

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38838734 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACACCTGAGGCAAGGCTGACTCAC[G/T]TTCTCCTGTGGTGTCAGAGACACGT

Phenotype

MIM: 600696 MIM: 603083

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ECH1 PubMed Links

Gene Details

Gene

ECH1

Gene Name

enoyl-CoA hydratase 1

There are no transcripts associated with this gene.

Gene

HNRNPL

Gene Name

heterogeneous nuclear ribonucleoprotein L

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005335.1		Intron			NP_001005335.1
NM_001533.2		Intron			NP_001524.2
XM_011526886.1		Intron			XP_011525188.1
XM_011526887.1		Intron			XP_011525189.1
XM_011526888.2		Intron			XP_011525190.1
XM_011526889.1		Intron			XP_011525191.1

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