Product Details

SNP ID

rs7948158

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:67432114 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGCAGGCTGTGAGCAGTCTTGACC[C/T]GCCTTTCCCTCGTTTGGGCCAGATG

Phenotype

MIM: 613368 MIM: 609849 MIM: 601577 MIM: 608939

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CARNS1 PubMed Links

Additional Information

For this assay, SNP(s) [rs114168251] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CARNS1

Gene Name

carnosine synthase 1

There are no transcripts associated with this gene.

Gene

CORO1B

Gene Name

coronin 1B

There are no transcripts associated with this gene.

Gene

PTPRCAP

Gene Name

protein tyrosine phosphatase, receptor type C associated protein

There are no transcripts associated with this gene.

Gene

RPS6KB2

Gene Name

ribosomal protein S6 kinase B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003952.2		Intron			NP_003943.2
XM_005274164.1		Intron			XP_005274221.1
XM_005274165.4		Intron			XP_005274222.1
XM_006718655.3		Intron			XP_006718718.1
XM_006718656.3		Intron			XP_006718719.1
XM_006718657.1		Intron			XP_006718720.1
XM_017018108.1		Intron			XP_016873597.1

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