Product Details

SNP ID
rs16969925
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35033545 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTTGCAGCTGGAGGAGGATGAGC[A/G]CTTCGAGGGCCGCGTGGTGTGGAAT
Phenotype
MIM: 142440 MIM: 600235
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
GRAMD1A PubMed Links

Gene Details

Gene
GRAMD1A
Gene Name
GRAM domain containing 1A
There are no transcripts associated with this gene.

Gene
HPN
Gene Name
hepsin
There are no transcripts associated with this gene.

Gene
SCN1B
Gene Name
sodium voltage-gated channel beta subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037.4 627 Missense Mutation CAC,CGC H85R NP_001028.1
NM_001321605.1 627 Missense Mutation CAC,CGC H52R NP_001308534.1
NM_199037.4 627 Missense Mutation CAC,CGC H85R NP_950238.1

View Full Product Details