Product Details

SNP ID

rs187394342

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4968808 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTTCCAGCTCCTGGTTCTGCTTC[A/C]GTTCCCTCATCCTGCAGAGAGAAAG

Phenotype

MIM: 611508 MIM: 610056

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CAMTA2 PubMed Links

Gene Details

Gene

CAMTA2

Gene Name

calmodulin binding transcription activator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171166.1	4341	Missense Mutation	CGG,CTG	R1181L	NP_001164637.1
NM_001171167.1	4341	Silent Mutation	ACG,ACT	T1208T	NP_001164638.1
NM_001171168.1	4341	Missense Mutation	CGG,CTG	R1185L	NP_001164639.1
NM_015099.3	4341	Missense Mutation	CGG,CTG	R1186L	NP_055914.2
XM_006721478.3	4341	Missense Mutation	CGG,CTG	R1191L	XP_006721541.1
XM_006721481.3	4341	Missense Mutation	CGG,CTG	R1162L	XP_006721544.1
XM_006721482.3	4341	Missense Mutation	CGG,CTG	R999L	XP_006721545.1
XM_011523746.2	4341	Missense Mutation	CGG,CTG	R1214L	XP_011522048.1
XM_011523747.2	4341	Missense Mutation	CGG,CTG	R1209L	XP_011522049.1
XM_011523748.2	4341	Missense Mutation	CGG,CTG	R1207L	XP_011522050.1
XM_011523749.2	4341	Missense Mutation	CGG,CTG	R1202L	XP_011522051.1

Gene

MIR6864

Gene Name

microRNA 6864

There are no transcripts associated with this gene.

Gene

MIR6865

Gene Name

microRNA 6865

There are no transcripts associated with this gene.

Gene

SPAG7

Gene Name

sperm associated antigen 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004890.2	4341	Intron			NP_004881.2
XM_006721600.2	4341	Intron			XP_006721663.1

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