Product Details

SNP ID

rs201114014

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:19951060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAATTTCAAGAGAGTACCATTGG[G/T]GGTGAGATTTTCTTTTTTCCCTGCT

Phenotype

MIM: 179512

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EFHB PubMed Links

Gene Details

Gene

EFHB

Gene Name

EF-hand domain family member B

There are no transcripts associated with this gene.

Gene

RAB5A

Gene Name

RAB5A, member RAS oncogene family

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001292048.1	697	Silent Mutation	GGG,GGT	G54G	NP_001278977.1
NM_004162.4	697	Silent Mutation	GGG,GGT	G54G	NP_004153.2

View Full Product Details