Product Details

SNP ID

rs9604780

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:17638220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTACTGTTAACAAAAGCGGGTTA[C/G]TAGTTAAGACTTCCTTCATGCCCTG

Phenotype

MIM: 108746

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP6V1E1 PubMed Links

Gene Details

Gene

ATP6V1E1

Gene Name

ATPase H+ transporting V1 subunit E1

There are no transcripts associated with this gene.

Gene

BCL2L13

Gene Name

BCL2 like 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270726.1	171	Intron			NP_001257655.1
NM_001270727.1	171	Intron			NP_001257656.1
NM_001270728.1	171	Intron			NP_001257657.1
NM_001270729.1	171	Intron			NP_001257658.1
NM_001270730.1	171	Intron			NP_001257659.1
NM_001270731.1	171	Intron			NP_001257660.1
NM_001270732.1	171	Intron			NP_001257661.1
NM_001270733.1	171	Intron			NP_001257662.1
NM_001270734.1	171	Intron			NP_001257663.1
NM_001270735.1	171	Intron			NP_001257664.1
NM_015367.3	171	Intron			NP_056182.2
XM_011546119.1	171	UTR 5			XP_011544421.1
XM_011546120.1	171	UTR 5			XP_011544422.1
XM_011546121.2	171	UTR 5			XP_011544423.1
XM_011546123.1	171	Intron			XP_011544425.1
XM_017028725.1	171	UTR 5			XP_016884214.1
XM_017028726.1	171	UTR 5			XP_016884215.1
XM_017028727.1	171	Intron			XP_016884216.1
XM_017028728.1	171	UTR 5			XP_016884217.1
XM_017028729.1	171	Intron			XP_016884218.1
XM_017028730.1	171	Intron			XP_016884219.1
XM_017028731.1	171	UTR 5			XP_016884220.1
XM_017028732.1	171	Intron			XP_016884221.1
XM_017028733.1	171	Intron			XP_016884222.1
XM_017028734.1	171	UTR 5			XP_016884223.1

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