Product Details

SNP ID

rs111399676

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129084749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCGGTTTCGTGACCCTCATCATAT[A/T]TAAGCGGGAGCTGCACACGGTGAGT

Phenotype

MIM: 614516

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DOLPP1 PubMed Links

Gene Details

Gene

DOLPP1

Gene Name

dolichyldiphosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135917.1	186	Missense Mutation	TAT,TTT	Y53F	NP_001129389.1
NM_020438.4	186	Missense Mutation	TAT,TTT	Y53F	NP_065171.2

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