Product Details

SNP ID

rs150472827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:108509712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAATTTGAGCTTAATGACTCTGAG[A/G]GGTTGGGAGGGTTCCTCAAATCATC

Phenotype

MIM: 612878

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EXPH5 PubMed Links

Gene Details

Gene

EXPH5

Gene Name

exophilin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144763.1	5906	Missense Mutation	CCC,CTC	P1856L	NP_001138235.1
NM_001144764.1	5906	Missense Mutation	CCC,CTC	P1776L	NP_001138236.1
NM_001144765.1	5906	Missense Mutation	CCC,CTC	P1744L	NP_001138237.1
NM_001308019.1	5906	Missense Mutation	CCC,CTC	P1925L	NP_001294948.1
NM_015065.2	5906	Missense Mutation	CCC,CTC	P1932L	NP_055880.2
XM_011542696.2	5906	Missense Mutation	CCC,CTC	P1856L	XP_011540998.1
XM_011542698.2	5906	Missense Mutation	CCC,CTC	P1856L	XP_011541000.1
XM_011542700.2	5906	Missense Mutation	CCC,CTC	P1856L	XP_011541002.1
XM_017017397.1	5906	Missense Mutation	CCC,CTC	P1856L	XP_016872886.1
XM_017017398.1	5906	Missense Mutation	CCC,CTC	P1855L	XP_016872887.1
XM_017017399.1	5906	Missense Mutation	CCC,CTC	P1856L	XP_016872888.1
XM_017017400.1	5906	Missense Mutation	CCC,CTC	P1856L	XP_016872889.1
XM_017017401.1	5906	Missense Mutation	CCC,CTC	P1855L	XP_016872890.1
XM_017017402.1	5906	Missense Mutation	CCC,CTC	P1776L	XP_016872891.1
XM_017017403.1	5906	Missense Mutation	CCC,CTC	P1775L	XP_016872892.1
XM_017017404.1	5906	Missense Mutation	CCC,CTC	P1744L	XP_016872893.1

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