Product Details

SNP ID

rs150650090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:80558529 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTTGCAATGATTGTCTCCTTAA[A/C]AACATTTTCTTACTTTTGAATTCTT

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ANKRD34B PubMed Links

Gene Details

Gene

ANKRD34B

Gene Name

ankyrin repeat domain 34B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004441.2	1921	Missense Mutation	TTG,TTT	L497F	NP_001004441.2
XM_006714599.3	1921	Missense Mutation	TTG,TTT	L497F	XP_006714662.1
XM_011543366.2	1921	Missense Mutation	TTG,TTT	L497F	XP_011541668.1
XM_011543369.2	1921	Missense Mutation	TTG,TTT	L497F	XP_011541671.1

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