Product Details

SNP ID: hCV27939851
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:75637032 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCCCCGCTGGAGGCCGGGGTCCAC[A/C]CGGCATGAGTCTGCAGCTCTCCCAC
Phenotype: MIM: 603781
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: RECQL5 PubMed Links

Gene Details

Gene: RECQL5
Gene Name: RecQ like helicase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003715.3		Intron			NP_001003715.1
NM_001003716.3		Intron			NP_001003716.1
NM_004259.6		Intron			NP_004250.4

Gene: SMIM5
Gene Name: small integral membrane protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001162995.2		Intron			NP_001156467.1

Gene: SMIM6
Gene Name: small integral membrane protein 6

There are no transcripts associated with this gene.

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