Product Details

SNP ID

rs12496946

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:19948244 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAACTTGTTAAGTTCTGAACGTC[A/G]TAGTTCACATACTTGGTTTTTGTCT

Phenotype

MIM: 179512

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EFHB PubMed Links

Gene Details

Gene

EFHB

Gene Name

EF-hand domain family member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144715.3		Intron			NP_653316.3

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		Intron			NP_001278977.1
NM_004162.4		Intron			NP_004153.2

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