Product Details

SNP ID

rs140004020

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:12242538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTGTTGAATTAGAAAACTTGCC[A/G]TTAAAGAAAGATGCCTTGAAAGAAT

Phenotype

MIM: 608877

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

VPS13D PubMed Links

Gene Details

Gene

VPS13D

Gene Name

vacuolar protein sorting 13 homolog D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015378.3	281	Silent Mutation	CCA,CCG	P41P	NP_056193.2
NM_018156.3	281	Silent Mutation	CCA,CCG	P41P	NP_060626.2

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