Product Details

SNP ID

rs201517076

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:12234283 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATATAGTCATGTTGGAAGGCCTTG[C/T]AGCCTGGGTTCTCAATACCTATTTG

Phenotype

MIM: 608877

Polymorphism

C/T, 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	175	Missense Mutation	GCA,GTA	A6V	NP_056193.2
NM_018156.3	175	Missense Mutation	GCA,GTA	A6V	NP_060626.2

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