Product Details

SNP ID
rs104894494
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:74891539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCCTTCCTCTTCAAAGTGCTCT[T/C]AGTTGAAACACCCCTGTCCATCCAG
Phenotype
MIM: 154550
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
FAM219B PubMed Links

Gene Details

Gene
FAM219B
Gene Name
family with sequence similarity 219 member B
There are no transcripts associated with this gene.

Gene
MPI
Gene Name
mannose phosphate isomerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289155.1 240 Missense Mutation TCA,TTA S102L NP_001276084.1
NM_001289156.1 240 Missense Mutation TCA,TTA S52L NP_001276085.1
NM_001289157.1 240 Missense Mutation TCA,TTA S102L NP_001276086.1
NM_002435.2 240 Missense Mutation TCA,TTA S102L NP_002426.1
XM_011521592.1 240 Missense Mutation TCA,TTA S98L XP_011519894.1
XM_011521593.2 240 Missense Mutation TCA,TTA S82L XP_011519895.1
XM_017022207.1 240 Missense Mutation TCA,TTA S98L XP_016877696.1
XM_017022208.1 240 Missense Mutation TCA,TTA S82L XP_016877697.1
XM_017022209.1 240 Missense Mutation TCA,TTA S52L XP_016877698.1

View Full Product Details