Product Details

SNP ID
rs319939
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.12:50952790 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
GAGCGCACCTCCTCTGGCTAGGGCG[C/T]GTTTCCGAAGGATGGCAAGAATCCT
Phenotype
MIM: 600523
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HIGD1C PubMed Links

Gene Details

Gene
HIGD1C
Gene Name
HIG1 hypoxia inducible domain family member 1C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001109619.1 Intron NP_001103089.1
XM_011538649.2 Intron XP_011536951.1
XM_017019783.1 Intron XP_016875272.1
XM_017019784.1 Intron XP_016875273.1
XM_017019785.1 Intron XP_016875274.1
Gene
SLC11A2
Gene Name
solute carrier family 11 member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000617.2 Intron NP_000608.1
NM_001174125.1 Intron NP_001167596.1
NM_001174126.1 Intron NP_001167597.1
NM_001174127.1 Intron NP_001167598.1
NM_001174128.1 Intron NP_001167599.1
NM_001174129.1 Intron NP_001167600.1
NM_001174130.1 Intron NP_001167601.1
XM_005268911.3 Intron XP_005268968.1
XM_005268912.4 Intron XP_005268969.1
XM_011538404.2 Intron XP_011536706.1
XM_011538405.2 Intron XP_011536707.1
XM_017019355.1 Intron XP_016874844.1
XM_017019356.1 Intron XP_016874845.1

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