Product Details

SNP ID

rs3180123

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:61964563 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCCCAAGACCTCAAAGACAACA[C/T]CTGGGTACCAAATTTCTTTATTTGA

Phenotype

MIM: 607854 MIM: 134770

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BEST1 PubMed Links

Gene Details

Gene

BEST1

Gene Name

bestrophin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001139443.1	951	Intron			NP_001132915.1
NM_001300786.1	951	Intron			NP_001287715.1
NM_001300787.1	951	Intron			NP_001287716.1
NM_004183.3	951	Intron			NP_004174.1
XM_005274210.3	951	Intron			XP_005274267.1
XM_005274215.3	951	Intron			XP_005274272.1
XM_005274216.3	951	Intron			XP_005274273.1
XM_005274219.3	951	Intron			XP_005274276.1
XM_005274221.3	951	Intron			XP_005274278.1
XM_011545229.2	951	Intron			XP_011543531.1
XM_011545230.2	951	Intron			XP_011543532.1
XM_011545233.2	951	Intron			XP_011543535.1
XM_017018228.1	951	Intron			XP_016873717.1
XM_017018229.1	951	Intron			XP_016873718.1
XM_017018230.1	951	Intron			XP_016873719.1

Gene

FTH1

Gene Name

ferritin heavy chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002032.2	951	UTR 3			NP_002023.2

Gene

LOC399900

Gene Name

uncharacterized LOC399900

There are no transcripts associated with this gene.

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