Product Details

SNP ID

rs200072889

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:142871948 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGTGTGGAAGGCCTGTGCGTAG[C/T]GTTGGATCCGCTGCCGGTTGAGATC

Phenotype

MIM: 602757 MIM: 606680

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EPHB6 PubMed Links

Gene Details

Gene

EPHB6

Gene Name

EPH receptor B6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001280794.2	2166	Intron			NP_001267723.2
NM_001280795.2	2166	Intron			NP_001267724.2
NM_004445.5	2166	Intron			NP_004436.4
XM_006715881.2	2166	Intron			XP_006715944.1
XM_011515879.1	2166	Intron			XP_011514181.1
XM_011515880.1	2166	Intron			XP_011514182.1
XM_011515881.2	2166	Intron			XP_011514183.1
XM_011515882.2	2166	Intron			XP_011514184.1

Gene

TRPV6

Gene Name

transient receptor potential cation channel subfamily V member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018646.5	2166	Missense Mutation	CAC,CGC	H686R	NP_061116.5

View Full Product Details