Product Details

SNP ID

rs201968492

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:67340460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAACCTATAGAACTCTTCTCGCTC[G/T]CTCTCATCCAGCTCTGTGATGATAT

Phenotype

MIM: 609398 MIM: 603930 MIM: 606958

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V1D PubMed Links

Gene Details

Gene

ATP6V1D

Gene Name

ATPase H+ transporting V1 subunit D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015994.3	887	Missense Mutation	AGA,AGC	R194S	NP_057078.1

Gene

GPHN

Gene Name

gephyrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024218.1	887	Intron			NP_001019389.1
NM_020806.4	887	Intron			NP_065857.1
XM_005267254.3	887	Intron			XP_005267311.1
XM_011536340.2	887	Intron			XP_011534642.1
XM_011536342.2	887	Intron			XP_011534644.1
XM_011536343.2	887	Intron			XP_011534645.1
XM_011536344.2	887	Intron			XP_011534646.1
XM_011536345.2	887	Intron			XP_011534647.1
XM_011536346.2	887	Intron			XP_011534648.1
XM_011536347.2	887	Intron			XP_011534649.1
XM_017020913.1	887	Intron			XP_016876402.1
XM_017020914.1	887	Intron			XP_016876403.1
XM_017020915.1	887	Intron			XP_016876404.1
XM_017020916.1	887	Intron			XP_016876405.1
XM_017020917.1	887	Intron			XP_016876406.1
XM_017020918.1	887	Intron			XP_016876407.1
XM_017020919.1	887	Intron			XP_016876408.1
XM_017020920.1	887	Intron			XP_016876409.1
XM_017020921.1	887	Intron			XP_016876410.1
XM_017020922.1	887	Intron			XP_016876411.1
XM_017020923.1	887	Intron			XP_016876412.1
XM_017020924.1	887	Intron			XP_016876413.1
XM_017020925.1	887	Intron			XP_016876414.1
XM_017020926.1	887	Intron			XP_016876415.1

Gene

LOC105370541

Gene Name

uncharacterized LOC105370541

There are no transcripts associated with this gene.

Gene

MPP5

Gene Name

membrane palmitoylated protein 5

There are no transcripts associated with this gene.

View Full Product Details