Product Details

SNP ID

rs41302427

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:67419524 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGTGGCTGGCGCTGGCGGGGGC[A/G]GCAGGCATGGCGTCTGCACCCGCGG

Phenotype

MIM: 613368 MIM: 608939 MIM: 610831

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CARNS1 PubMed Links

Gene Details

Gene

CARNS1

Gene Name

carnosine synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166222.1	973	Missense Mutation	CAG,CGG	Q297R	NP_001159694.1
NM_020811.1	973	Missense Mutation	CAG,CGG	Q174R	NP_065862.1
XM_011545189.2	973	Missense Mutation	CAG,CGG	Q297R	XP_011543491.1
XM_011545191.2	973	Missense Mutation	CAG,CGG	Q313R	XP_011543493.1
XM_017018054.1	973	Missense Mutation	CAG,CGG	Q313R	XP_016873543.1
XM_017018055.1	973	Missense Mutation	CAG,CGG	Q283R	XP_016873544.1

Gene

RPS6KB2

Gene Name

ribosomal protein S6 kinase B2

There are no transcripts associated with this gene.

Gene

TBC1D10C

Gene Name

TBC1 domain family member 10C

There are no transcripts associated with this gene.

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