Product Details

SNP ID

rs73272350

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:67593644 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAAAGAGATTTACCTTTTAAATAT[A/C]AGTCTCACTTTTACGGTTTTAGTTT

Phenotype

MIM: 603930 MIM: 600154

Polymorphism

A/C, Transversion 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		Intron			NP_001019389.1
NM_020806.4		Intron			NP_065857.1
XM_005267254.3		Intron			XP_005267311.1
XM_011536340.2		Intron			XP_011534642.1
XM_011536342.2		Intron			XP_011534644.1
XM_011536343.2		Intron			XP_011534645.1
XM_011536344.2		Intron			XP_011534646.1
XM_011536345.2		Intron			XP_011534647.1
XM_011536346.2		Intron			XP_011534648.1
XM_011536347.2		Intron			XP_011534649.1
XM_017020913.1		Intron			XP_016876402.1
XM_017020914.1		Intron			XP_016876403.1
XM_017020915.1		Intron			XP_016876404.1
XM_017020916.1		Intron			XP_016876405.1
XM_017020917.1		Intron			XP_016876406.1
XM_017020918.1		Intron			XP_016876407.1
XM_017020919.1		Intron			XP_016876408.1
XM_017020920.1		Intron			XP_016876409.1
XM_017020921.1		Intron			XP_016876410.1
XM_017020922.1		Intron			XP_016876411.1
XM_017020923.1		Intron			XP_016876412.1
XM_017020924.1		Intron			XP_016876413.1
XM_017020925.1		Intron			XP_016876414.1
XM_017020926.1		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		Intron			NP_004560.1
XM_011536838.2		Intron			XP_011535140.1
XM_017021371.1		Intron			XP_016876860.1
XM_017021372.1		Intron			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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