Product Details

SNP ID
rs144996564
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:10301309 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTCACTGATGCTGATACGGAGCC[C/G]TGGCCCTTGTTGACATCACTGATGC
Phenotype
MIM: 605353 MIM: 600152
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GHRL PubMed Links

Gene Details

Gene
GHRL
Gene Name
ghrelin/obestatin prepropeptide
There are no transcripts associated with this gene.

Gene
GHRLOS
Gene Name
ghrelin opposite strand/antisense RNA
There are no transcripts associated with this gene.

Gene
SEC13
Gene Name
SEC13 homolog, nuclear pore and COPII coat complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136026.2 1235 Missense Mutation CAC,CAG H353Q NP_001129498.1
NM_001136232.2 1235 Intron NP_001129704.1
NM_001278946.1 1235 Intron NP_001265875.1
NM_030673.3 1235 Intron NP_109598.2
NM_183352.2 1235 Intron NP_899195.1
XM_005265379.2 1235 Intron XP_005265436.1
XM_017007019.1 1235 Intron XP_016862508.1
XM_017007020.1 1235 Intron XP_016862509.1
XM_017007021.1 1235 Intron XP_016862510.1

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