Product Details

SNP ID

rs201019375

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:53851956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCCAGAAACATTTCTCCAGGCC[A/G]TCTATATGGACACAGTTTCTGCCCC

Phenotype

MIM: 608861 MIM: 607193

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP6V1H PubMed Links

Gene Details

Gene

ATP6V1H

Gene Name

ATPase H+ transporting V1 subunit H

There are no transcripts associated with this gene.

Gene

RGS20

Gene Name

regulator of G-protein signaling 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286673.1	149	Silent Mutation	CCA,CCG	P19P	NP_001273602.1
NM_001286674.1	149	UTR 5			NP_001273603.1
NM_001286675.1	149	UTR 5			NP_001273604.1
NM_003702.4	149	Intron			NP_003693.2
NM_170587.3	149	Silent Mutation	CCA,CCG	P19P	NP_733466.1
XM_011517622.2	149	Intron			XP_011515924.1

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