Product Details

SNP ID

rs146199863

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:108509554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAAGCCTCACAGTTCTGACTCTT[C/T]GTCATTTTCATCCAGGTAGTATTCA

Phenotype

MIM: 612878

Polymorphism

C/T, 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	6064	Missense Mutation	AAA,GAA	K1909E	NP_001138235.1
NM_001144764.1	6064	Missense Mutation	AAA,GAA	K1829E	NP_001138236.1
NM_001144765.1	6064	Missense Mutation	AAA,GAA	K1797E	NP_001138237.1
NM_001308019.1	6064	Missense Mutation	AAA,GAA	K1978E	NP_001294948.1
NM_015065.2	6064	Missense Mutation	AAA,GAA	K1985E	NP_055880.2
XM_011542696.2	6064	Missense Mutation	AAA,GAA	K1909E	XP_011540998.1
XM_011542698.2	6064	Missense Mutation	AAA,GAA	K1909E	XP_011541000.1
XM_011542700.2	6064	Missense Mutation	AAA,GAA	K1909E	XP_011541002.1
XM_017017397.1	6064	Missense Mutation	AAA,GAA	K1909E	XP_016872886.1
XM_017017398.1	6064	Missense Mutation	AAA,GAA	K1908E	XP_016872887.1
XM_017017399.1	6064	Missense Mutation	AAA,GAA	K1909E	XP_016872888.1
XM_017017400.1	6064	Missense Mutation	AAA,GAA	K1909E	XP_016872889.1
XM_017017401.1	6064	Missense Mutation	AAA,GAA	K1908E	XP_016872890.1
XM_017017402.1	6064	Missense Mutation	AAA,GAA	K1829E	XP_016872891.1
XM_017017403.1	6064	Missense Mutation	AAA,GAA	K1828E	XP_016872892.1
XM_017017404.1	6064	Missense Mutation	AAA,GAA	K1797E	XP_016872893.1

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