Product Details

SNP ID: rs182279805
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:75647562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCAGTGTGAAGCGGGTGAAGAGGA[A/G]TGACCTGACTTGCTGGGGACTGAGA
Phenotype: MIM: 603781
Polymorphism: A/G, Transition 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	413	Intron			NP_001003715.1
NM_001003716.3	413	Intron			NP_001003716.1
NM_004259.6	413	Intron			NP_004250.4
XM_005257818.3	413	Intron			XP_005257875.1
XM_005257822.3	413	Intron			XP_005257879.1
XM_005257823.3	413	Intron			XP_005257880.1
XM_006722186.2	413	Intron			XP_006722249.1
XM_011525482.2	413	Intron			XP_011523784.1
XM_011525484.1	413	Intron			XP_011523786.1
XM_011525485.2	413	Intron			XP_011523787.1
XM_011525486.2	413	Intron			XP_011523788.1
XM_017025343.1	413	Intron			XP_016880832.1
XM_017025344.1	413	Intron			XP_016880833.1

Gene: SMIM5
Gene Name: small integral membrane protein 5

There are no transcripts associated with this gene.

Gene: SMIM6
Gene Name: small integral membrane protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001162997.1	413	Silent Mutation	GAA,GAG	E62E	NP_001156469.1
XM_005256903.4	413	Silent Mutation	GAA,GAG	E62E	XP_005256960.1

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