Product Details

SNP ID

rs147585774

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2164304 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGACACCCTCCAGGGAGCGCCGCA[C/T]GGCCTGGGGGCTGTCCAGCACGTCG

Phenotype

MIM: 176730 MIM: 191290

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

INS PubMed Links

Gene Details

Gene

INS

Gene Name

insulin

There are no transcripts associated with this gene.

Gene

INS-IGF2

Gene Name

INS-IGF2 readthrough

There are no transcripts associated with this gene.

Gene

MIR4686

Gene Name

microRNA 4686

There are no transcripts associated with this gene.

Gene

TH

Gene Name

tyrosine hydroxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000360.3	3730	Missense Mutation	ATG,GTG	M475V	NP_000351.2
NM_199292.2	3730	Missense Mutation	ATG,GTG	M506V	NP_954986.2
NM_199293.2	3730	Missense Mutation	ATG,GTG	M502V	NP_954987.2
XM_011520335.2	3730	Missense Mutation	ATG,GTG	M479V	XP_011518637.1

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