Product Details

SNP ID

rs3983531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:21471004 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGCGTGGACTTTGTCACTTGCA[C/T]AGTAATAGCATGTGCCTCATTGTTC

Phenotype

MIM: 600537

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PYROXD1 PubMed Links

Gene Details

Gene

PYROXD1

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024854.3	2181	Intron			NP_079130.2
XM_006719153.3	2181	Intron			XP_006719216.1
XM_017019976.1	2181	Intron			XP_016875465.1

Gene

RECQL

Gene Name

RecQ like helicase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002907.3	2181	Missense Mutation	ATG,GTG	M588V	NP_002898.2
NM_032941.2	2181	Missense Mutation	ATG,GTG	M588V	NP_116559.1
XM_005253461.3	2181	Missense Mutation	ATG,GTG	M588V	XP_005253518.1
XM_005253462.4	2181	Missense Mutation	ATG,GTG	M588V	XP_005253519.1
XM_005253463.3	2181	Missense Mutation	ATG,GTG	M588V	XP_005253520.1
XM_005253464.3	2181	Missense Mutation	ATG,GTG	M588V	XP_005253521.1

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