Product Details

SNP ID

rs144756230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4968782 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGTGGCCAGTCCCGGCTGGGGAA[A/G]CCCTTCCAGCTCCTGGTTCTGCTTC

Phenotype

MIM: 611508 MIM: 610056

Polymorphism

A/G, Transition 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	4367	Missense Mutation	CTT,TTT	L1190F	NP_001164637.1
NM_001171167.1	4367	Missense Mutation	GCT,GTT	A1217V	NP_001164638.1
NM_001171168.1	4367	Missense Mutation	CTT,TTT	L1194F	NP_001164639.1
NM_015099.3	4367	Missense Mutation	CTT,TTT	L1195F	NP_055914.2
XM_006721478.3	4367	Missense Mutation	CTT,TTT	L1200F	XP_006721541.1
XM_006721481.3	4367	Missense Mutation	CTT,TTT	L1171F	XP_006721544.1
XM_006721482.3	4367	Missense Mutation	CTT,TTT	L1008F	XP_006721545.1
XM_011523746.2	4367	Missense Mutation	CTT,TTT	L1223F	XP_011522048.1
XM_011523747.2	4367	Missense Mutation	CTT,TTT	L1218F	XP_011522049.1
XM_011523748.2	4367	Missense Mutation	CTT,TTT	L1216F	XP_011522050.1
XM_011523749.2	4367	Missense Mutation	CTT,TTT	L1211F	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	4367	Intron			NP_004881.2
XM_006721600.2	4367	Intron			XP_006721663.1

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