Product Details

SNP ID

rs149995860

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:12234363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCTCTCAGTTGCACTTCTCAAA[C/G]GTGAGTATTTCTCTGGGTGAGATAC

Phenotype

MIM: 608877

Polymorphism

C/G, 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	255	Missense Mutation	CGT,GGT	R33G	NP_056193.2
NM_018156.3	255	Missense Mutation	CGT,GGT	R33G	NP_060626.2

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