Product Details

SNP ID
rs201612571
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50961099 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATTTGTTGTTGGAGCTGTGACT[C/T]TAGGTAACCCGCTTAATTTGTATCT
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 1801 Silent Mutation CTA,TTA L76L NP_001103089.1
XM_011538649.2 1801 Silent Mutation CTA,TTA L76L XP_011536951.1
XM_017019783.1 1801 Silent Mutation CTA,TTA L124L XP_016875272.1
XM_017019784.1 1801 Silent Mutation CTA,TTA L124L XP_016875273.1
XM_017019785.1 1801 Silent Mutation CTA,TTA L84L 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 1801 Intron NP_000608.1
NM_001174125.1 1801 Intron NP_001167596.1
NM_001174126.1 1801 Intron NP_001167597.1
NM_001174127.1 1801 Intron NP_001167598.1
NM_001174128.1 1801 Intron NP_001167599.1
NM_001174129.1 1801 Intron NP_001167600.1
NM_001174130.1 1801 Intron NP_001167601.1
XM_005268911.3 1801 Intron XP_005268968.1
XM_005268912.4 1801 Intron XP_005268969.1
XM_011538404.2 1801 Intron XP_011536706.1
XM_011538405.2 1801 Intron XP_011536707.1
XM_017019355.1 1801 Intron XP_016874844.1
XM_017019356.1 1801 Intron XP_016874845.1

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