Product Details

SNP ID

rs149112513

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:97947390 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATCTTGATCCGGCAGTACTGTGA[A/G]GACAATGTGGTCTTTAAACTGCAGT

Phenotype

MIM: 612049

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CRYBG3 PubMed Links

Gene Details

Gene

CRYBG3

Gene Name

crystallin beta-gamma domain containing 3

There are no transcripts associated with this gene.

Gene

MINA

Gene Name

MYC induced nuclear antigen

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042533.2	1230	Missense Mutation	CTC,TTC	L374F	NP_001035998.1
NM_001261829.1	1230	Missense Mutation	CTC,TTC	L373F	NP_001248758.1
NM_032778.5	1230	Missense Mutation	CTC,TTC	L373F	NP_116167.3
NM_153182.3	1230	Missense Mutation	CTC,TTC	L374F	NP_694822.2
XM_005247838.4	1230	Missense Mutation	CTC,TTC	L374F	XP_005247895.1
XM_011513244.2	1230	Missense Mutation	CTC,TTC	L143F	XP_011511546.1

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