Product Details

SNP ID

rs200113836

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48969598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCACCGAGGCTGGCCGTGGGTAG[C/T]GGTACCCCTGGGCCTGCATACGGCG

Phenotype

MIM: 600040 MIM: 134790 MIM: 138570

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BAX PubMed Links

Gene Details

Gene

BAX

Gene Name

BCL2 associated X, apoptosis regulator

There are no transcripts associated with this gene.

Gene

FTL

Gene Name

ferritin light chain

There are no transcripts associated with this gene.

Gene

GYS1

Gene Name

glycogen synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161587.1	2145	Missense Mutation	CAC,CGC	H571R	NP_001155059.1
NM_002103.4	2145	Missense Mutation	CAC,CGC	H635R	NP_002094.2

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