Product Details

SNP ID

rs200385286

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:142871922 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCTTTGTCCAAATCCTCAGAGC[C/T]CCGGGTGTGGAAGGCCTGTGCGTAG

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	2192	Intron			NP_001267723.2
NM_001280795.2	2192	Intron			NP_001267724.2
NM_004445.5	2192	Intron			NP_004436.4
XM_006715881.2	2192	Intron			XP_006715944.1
XM_011515879.1	2192	Intron			XP_011514181.1
XM_011515880.1	2192	Intron			XP_011514182.1
XM_011515881.2	2192	Intron			XP_011514183.1
XM_011515882.2	2192	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	2192	Missense Mutation	AGC,GGC	S695G	NP_061116.5

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