Product Details

SNP ID: rs200430731
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:241678496 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCTTTCATGAGCTGGTGGAAACACC[A/G]GAGCGCCCGCTCCTGGAAAGCCCCG
Phenotype: MIM: 611338 MIM: 188345 MIM: 608525
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ATG4B PubMed Links

Gene Details

Gene: ATG4B
Gene Name: autophagy related 4B cysteine peptidase

There are no transcripts associated with this gene.

Gene: DTYMK
Gene Name: deoxythymidylate kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165031.1	506	Missense Mutation	CGG,TGG	R138W	NP_001158503.1
NM_001320902.1	506	Missense Mutation	CGG,TGG	R119W	NP_001307831.1
NM_001320903.1	506	Silent Mutation	TCC,TCT	S107S	NP_001307832.1
NM_001320904.1	506	Missense Mutation	CGG,TGG	R143W	NP_001307833.1
NM_001320905.1	506	Missense Mutation	CGG,TGG	R201W	NP_001307834.1
NM_012145.3	506	Missense Mutation	CGG,TGG	R162W	NP_036277.2

Gene: ING5
Gene Name: inhibitor of growth family member 5

There are no transcripts associated with this gene.

View Full Product Details