Product Details

SNP ID

rs199514346

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:1320623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACGCAGCCGCACTCACCACCGCT[A/G]GTACAGGTAGACCAGAAACACCACG

Phenotype

MIM: 612585

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLPTM1L PubMed Links

Gene Details

Gene

CLPTM1L

Gene Name

CLPTM1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030782.4	1718	Nonsense Mutation	CAG,TAG	Q509*	NP_110409.2
XM_011514144.2	1718	Nonsense Mutation	CAG,TAG	Q508*	XP_011512446.1

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