Product Details

SNP ID

rs78876317

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:17637827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCAGTTCAACTCTTTTATCACTT[A/C]CTTTAGAATAGCCTTGTTGAGATAT

Phenotype

MIM: 108746

Polymorphism

A/C, 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		Intron			NP_001257655.1
NM_001270727.1		Intron			NP_001257656.1
NM_001270728.1		Intron			NP_001257657.1
NM_001270729.1		Intron			NP_001257658.1
NM_001270730.1		Intron			NP_001257659.1
NM_001270731.1		Intron			NP_001257660.1
NM_001270732.1		Intron			NP_001257661.1
NM_001270733.1		Intron			NP_001257662.1
NM_001270734.1		Intron			NP_001257663.1
NM_001270735.1		Intron			NP_001257664.1
NM_015367.3		Intron			NP_056182.2
XM_011546119.1		Intron			XP_011544421.1
XM_011546120.1		Intron			XP_011544422.1
XM_011546121.2		Intron			XP_011544423.1
XM_011546123.1		Intron			XP_011544425.1
XM_017028725.1		Intron			XP_016884214.1
XM_017028726.1		Intron			XP_016884215.1
XM_017028727.1		Intron			XP_016884216.1
XM_017028728.1		Intron			XP_016884217.1
XM_017028729.1		Intron			XP_016884218.1
XM_017028730.1		Intron			XP_016884219.1
XM_017028731.1		Intron			XP_016884220.1
XM_017028732.1		Intron			XP_016884221.1
XM_017028733.1		Intron			XP_016884222.1
XM_017028734.1		Intron			XP_016884223.1

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