Product Details

SNP ID

rs200519385

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:29555961 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGCAGAGGCGAGATCTTCAAGG[G/T]GATCATGATCCTAGACTCCATGTGT

Phenotype

MIM: 603249 MIM: 612733

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

NIPSNAP1 PubMed Links

Gene Details

Gene

NIPSNAP1

Gene Name

nipsnap homolog 1 (C. elegans)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202502.1	783	Missense Mutation	ACC,CCC	T257P	NP_001189431.1
NM_003634.3	783	Missense Mutation	ACC,CCC	T277P	NP_003625.2

Gene

THOC5

Gene Name

THO complex 5

There are no transcripts associated with this gene.

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