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SNP ID

rs145038693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2160817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTCTGCCTCCCGGCGGGTCTTG[C/G]GTGTGTAGAAGAAGCCTCGTTCCCC

Phenotype

MIM: 176730 MIM: 191290

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

INS PubMed Links

Gene Details

Gene

INS

Gene Name

insulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000207.2	214	Missense Mutation	CCC,CGC	P52R	NP_000198.1
NM_001185097.1	214	Missense Mutation	CCC,CGC	P52R	NP_001172026.1
NM_001185098.1	214	Missense Mutation	CCC,CGC	P52R	NP_001172027.1
NM_001291897.1	214	Missense Mutation	CCC,CGC	P52R	NP_001278826.1

Gene

INS-IGF2

Gene Name

INS-IGF2 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042376.2	214	Missense Mutation	CCC,CGC	P52R	NP_001035835.1

Gene

TH

Gene Name

tyrosine hydroxylase

There are no transcripts associated with this gene.

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