Product Details

SNP ID

rs437102

Assay Type

Functionally tested

NCBI dbSNP Submissions

30

Location

Chr.1:12242015 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGCAAGGGGTCAGCAAAGAGACC[A/C]GCCGGCCACATCTGGCCTGCAGACT

Phenotype

MIM: 608877

Polymorphism

A/C, Transversion 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		Intron			NP_056193.2
NM_018156.3		Intron			NP_060626.2

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