Product Details

SNP ID
rs139528360
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:162373533 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCTTCCGGTTGACTGGTTCTCAT[A/C]AGCTGGATGATGGGTCTCTGATATT
Phenotype
MIM: 607030 MIM: 608169
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GCA PubMed Links

Gene Details

Gene
GCA
Gene Name
grancalcin
There are no transcripts associated with this gene.

Gene
KCNH7
Gene Name
potassium voltage-gated channel subfamily H member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033272.3 3404 Silent Mutation CTG,CTT L1087L NP_150375.2
NM_173162.2 3404 Intron NP_775185.1
XM_011512109.2 3404 Silent Mutation CTG,CTT L1095L XP_011510411.1
XM_017005218.1 3404 Silent Mutation CTG,CTT L1092L XP_016860707.1
XM_017005219.1 3404 Silent Mutation CTG,CTT L1084L XP_016860708.1
XM_017005220.1 3404 Silent Mutation CTG,CTT L1080L XP_016860709.1
XM_017005221.1 3404 Intron XP_016860710.1

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