Product Details

SNP ID

rs145953556

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:61762551 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGTACGCTTCGAGGACTTCACG[G/T]AGCTCTGGAGAAACATGAAGTTCGG

Phenotype

MIM: 600591

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SNAPC1 PubMed Links

Gene Details

Gene

SNAPC1

Gene Name

small nuclear RNA activating complex polypeptide 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003082.3	195	Nonsense Mutation	GAG,TAG	E31*	NP_003073.1

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