Product Details

SNP ID

rs111942360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:67592684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCCCATGTGGTTCCACTGGATCT[C/T]TCAATAAGATGCAGAGGTAGTAAAT

Phenotype

MIM: 603930 MIM: 600154

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GPHN PubMed Links

Gene Details

Gene

GPHN

Gene Name

gephyrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024218.1	521	Intron			NP_001019389.1
NM_020806.4	521	Intron			NP_065857.1
XM_005267254.3	521	Intron			XP_005267311.1
XM_011536340.2	521	Intron			XP_011534642.1
XM_011536342.2	521	Intron			XP_011534644.1
XM_011536343.2	521	Intron			XP_011534645.1
XM_011536344.2	521	Intron			XP_011534646.1
XM_011536345.2	521	Intron			XP_011534647.1
XM_011536346.2	521	Intron			XP_011534648.1
XM_011536347.2	521	Intron			XP_011534649.1
XM_017020913.1	521	Intron			XP_016876402.1
XM_017020914.1	521	Intron			XP_016876403.1
XM_017020915.1	521	Intron			XP_016876404.1
XM_017020916.1	521	Intron			XP_016876405.1
XM_017020917.1	521	Intron			XP_016876406.1
XM_017020918.1	521	Intron			XP_016876407.1
XM_017020919.1	521	Intron			XP_016876408.1
XM_017020920.1	521	Intron			XP_016876409.1
XM_017020921.1	521	Intron			XP_016876410.1
XM_017020922.1	521	Intron			XP_016876411.1
XM_017020923.1	521	Intron			XP_016876412.1
XM_017020924.1	521	Intron			XP_016876413.1
XM_017020925.1	521	Intron			XP_016876414.1
XM_017020926.1	521	Intron			XP_016876415.1

Gene

PIGH

Gene Name

phosphatidylinositol glycan anchor biosynthesis class H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004569.3	521	Missense Mutation	AAA,AGA	K142R	NP_004560.1
XM_011536838.2	521	Missense Mutation	AAA,AGA	K142R	XP_011535140.1
XM_017021371.1	521	Missense Mutation	AAA,AGA	K141R	XP_016876860.1
XM_017021372.1	521	Missense Mutation	AAA,AGA	K141R	XP_016876861.1

Gene

PLEKHH1

Gene Name

pleckstrin homology, MyTH4 and FERM domain containing H1

There are no transcripts associated with this gene.

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