Product Details

SNP ID

rs1044163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:9914279 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGATGGCGTCCGCCTCAGGGGCCA[C/T]GGCGAAGCACGAGCAGATCCTGGTC

Phenotype

MIM: 605703

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

VAPA PubMed Links

Gene Details

Gene

VAPA

Gene Name

VAMP associated protein A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003574.5	322	Missense Mutation	ACG,ATG	T8M	NP_003565.4
NM_194434.2	322	Missense Mutation	ACG,ATG	T8M	NP_919415.2
XM_011525769.2	322	Intron			XP_011524071.1
XM_017026079.1	322	Intron			XP_016881568.1

View Full Product Details