Product Details

SNP ID

hCV190008352

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:67345859 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTCCCCACCTCTGGCTAAACCA[T/G]TCAGTTCATAACCTGAAAGGACCAG

Phenotype

MIM: 609398 MIM: 603930 MIM: 606958

Polymorphism

T/G, Transversion 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

GPHN

Gene Name

gephyrin

There are no transcripts associated with this gene.

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.

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