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SNP ID: rs41317322
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:23308915 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTGAGGACAGTGCTGACGGGGGCC[A/G]TGGCACTGGGGGCCCTGGTAACTGT
Phenotype: MIM: 601931
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: BCL2L2 PubMed Links

Gene Details

Gene: BCL2L2
Gene Name: BCL2 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199839.1	716	Missense Mutation	ATG,GTG	M178V	NP_001186768.1
NM_004050.4	716	Missense Mutation	ATG,GTG	M178V	NP_004041.1

Gene: BCL2L2-PABPN1
Gene Name: BCL2L2-PABPN1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199864.1	716	Intron			NP_001186793.1

Gene: PPP1R3E
Gene Name: protein phosphatase 1 regulatory subunit 3E

There are no transcripts associated with this gene.

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