Product Details

SNP ID

rs144511852

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62807625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGGCTCCTAGCACGTTCTCGTC[A/G]ATCCTGGGGACAAGGCCGGGAGAAG

Phenotype

MIM: 602647 MIM: 603189

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NXF1 PubMed Links

Gene Details

Gene

NXF1

Gene Name

nuclear RNA export factor 1

There are no transcripts associated with this gene.

Gene

STX5

Gene Name

syntaxin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244666.1	1069	Missense Mutation	TCG,TTG	S317L	NP_001231595.1
NM_003164.4	1069	Silent Mutation	ATC,ATT	I304I	NP_003155.2
XM_011545223.2	1069	Silent Mutation	ATC,ATT	I250I	XP_011543525.1
XM_011545224.2	1069	Silent Mutation	ATC,ATT	I208I	XP_011543526.1

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