Product Details

SNP ID

rs144625575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4989486 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGGTGGTAAGTGACAGCCCTCA[A/C]CCGGGCGGGGACTCCCCCAAGGCCC

Phenotype

MIM: 611508 MIM: 603060

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CAMTA2 PubMed Links

Gene Details

Gene

CAMTA2

Gene Name

calmodulin binding transcription activator 2

There are no transcripts associated with this gene.

Gene

INCA1

Gene Name

inhibitor of CDK, cyclin A1 interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167985.1	768	Missense Mutation	GTG,TTG	V98L	NP_001161457.1
NM_001167986.1	768	Missense Mutation	GTG,TTG	V113L	NP_001161458.1
NM_001167987.1	768	Missense Mutation	GTG,TTG	V113L	NP_001161459.1
NM_213726.2	768	Missense Mutation	GTG,TTG	V98L	NP_998891.2
XM_005256627.3	768	Missense Mutation	GTG,TTG	V113L	XP_005256684.1
XM_005256628.4	768	Missense Mutation	GTG,TTG	V113L	XP_005256685.1
XM_005256629.1	768	Missense Mutation	GTG,TTG	V98L	XP_005256686.1
XM_006721517.1	768	Missense Mutation	GTG,TTG	V113L	XP_006721580.1
XM_006721518.2	768	Missense Mutation	GTG,TTG	V98L	XP_006721581.1
XM_006721519.3	768	Missense Mutation	GTG,TTG	V98L	XP_006721582.1
XM_011523832.2	768	Missense Mutation	GTG,TTG	V113L	XP_011522134.1
XM_011523834.2	768	Missense Mutation	GTG,TTG	V113L	XP_011522136.1

Gene

KIF1C

Gene Name

kinesin family member 1C

There are no transcripts associated with this gene.

Gene

LOC101927979

Gene Name

translation initiation factor IF-2

There are no transcripts associated with this gene.

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