Product Details

SNP ID

rs141618976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:67364975 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCATCCGAATTGGCAGGAATGAG[C/T]GTGTGGTTGTCATTAGGGTGGACAA

Phenotype

MIM: 609398 MIM: 603907 MIM: 603930

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP6V1D PubMed Links

Gene Details

Gene

ATP6V1D

Gene Name

ATPase H+ transporting V1 subunit D

There are no transcripts associated with this gene.

Gene

EIF2S1

Gene Name

eukaryotic translation initiation factor 2 subunit alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004094.4	349	Missense Mutation	CGT,TGT	R70C	NP_004085.1

Gene

GPHN

Gene Name

gephyrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024218.1	349	Intron			NP_001019389.1
NM_020806.4	349	Intron			NP_065857.1
XM_005267254.3	349	Intron			XP_005267311.1
XM_011536340.2	349	Intron			XP_011534642.1
XM_011536342.2	349	Intron			XP_011534644.1
XM_011536343.2	349	Intron			XP_011534645.1
XM_011536344.2	349	Intron			XP_011534646.1
XM_011536345.2	349	Intron			XP_011534647.1
XM_011536346.2	349	Intron			XP_011534648.1
XM_011536347.2	349	Intron			XP_011534649.1
XM_017020913.1	349	Intron			XP_016876402.1
XM_017020914.1	349	Intron			XP_016876403.1
XM_017020915.1	349	Intron			XP_016876404.1
XM_017020916.1	349	Intron			XP_016876405.1
XM_017020917.1	349	Intron			XP_016876406.1
XM_017020918.1	349	Intron			XP_016876407.1
XM_017020919.1	349	Intron			XP_016876408.1
XM_017020920.1	349	Intron			XP_016876409.1
XM_017020921.1	349	Intron			XP_016876410.1
XM_017020922.1	349	Intron			XP_016876411.1
XM_017020923.1	349	Intron			XP_016876412.1
XM_017020924.1	349	Intron			XP_016876413.1
XM_017020925.1	349	Intron			XP_016876414.1
XM_017020926.1	349	Intron			XP_016876415.1

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