RGD:156067008 Rat Genome Database

Variant: RGD:156067008 - Homo sapiens

RGD ID:

156067008

ClinVar ID:

CV2236947

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SP2 SP2-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	45,994,260
GRCh38	17	47,916,894

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_003110.6:c.823G>A NC_000017.11:g.47916894G>A NC_000017.10:g.45994260G>A NM_003110.5:c.823G>A NP_003101.3:p.Asp275Asn More...	10/26/2021	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SP2
Accession:	NM_003110
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPG KNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIP GTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPL SKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQA LRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKK HSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPT QIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWF FCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNL*

Gene Symbol:	SP2
Accession:	XM_006722023
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPG KNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIP GTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPL SKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQA LRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKK HSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPT QIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWF FCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPE EGAVVSQSDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_006722027
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_006722025
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_011525139
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_011525143
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_011525136
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALKLCWESQTARDLKGEVLASEENRKSCKQGKTAADTEVFQGSGRRPVVAEGEKAGQRMGKAVAQCPRCLWPALMEDPQ RAGCTGLTRGAEIWARHRPMSWQPVEDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTP PAPPQPTPRKLVPIKPAPLPLSPGKNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVP QIQASNSQTIQVQPNLTNQIQIIPGTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPV NNLVNASDTGAPTQLLTESPPTPLSKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPA VVQQVQVVPPKAEQQQVVQIPQQALRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATA AATSNTTCSSPASRAPHLSGTSKKHSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNT GGQQQLTVQNVSGNNLTISGLSPTQIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTF RKTSLLRAHVRLHTGERPFVCNWFFCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLR QNLQLGSSASFVFSLGELGEGTPEEGAVVSQSDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_011525137
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALKLCWESQTARDLKGEVLASEENRKSCKQGKTAADTEVFQGSGRRPVVAEGEKAGQRMGKAVAQCPRCLWPALMEDPQ RAGCTGLTRGAEIWARHRPMSWQPVEDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTP PAPPQPTPRKLVPIKPAPLPLSPGKNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVP QIQASNSQTIQVQPNLTNQIQIIPGTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPV NNLVNASDTGAPTQLLTESPPTPLSKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPA VVQQVQVVPPKAEQQQVVQIPQQALRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATA AATSNTTCSSPASRAPHLSGTSKKHSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNT GGQQQLTVQNVSGNNLTISGLSPTQIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTF RKTSLLRAHVRLHTGERPFVCNWFFCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLR QNLQLGSSASFVFSLGELGEGTPEEGAVVSQSDPHWDQAPQGPEEHPA*

Gene Symbol:	SP2
Accession:	XM_011525138
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALKLCWESQTARDLKGEVLASEENRKSCKQGKTAADTEVFQGSGRRPVVAEGEKAGQRMGKAVAQCPRCLWPALMEDPQ RAGCTGLTRGAEIWARHRPMSWQPVEDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTP PAPPQPTPRKLVPIKPAPLPLSPGKNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVP QIQASNSQTIQVQPNLTNQIQIIPGTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPV NNLVNASDTGAPTQLLTESPPTPLSKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPA VVQQVQVVPPKAEQQQVVQIPQQALRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATA AATSNTTCSSPASRAPHLSGTSKKHSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNT GGQQQLTVQNVSGNNLTISGLSPTQIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTF RKTSLLRAHVRLHTGERPFVCNWFFCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLR QNLQLGSSASFVFSLGELGEGTPEEGAVVSQSDPHWDQGP*

Gene Symbol:	SP2
Accession:	XM_011525140
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALKLCWESQTARDLKGEVLASEENRKSCKQGKTAADTEVFQGSGRRPVVAEGEKAGQRMGKAVAQCPRCLWPALMEDPQ RAGCTGLTRGAEIWARHRPMSWQPVEDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTP PAPPQPTPRKLVPIKPAPLPLSPGKNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVP QIQASNSQTIQVQPNLTNQIQIIPGTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPV NNLVNASDTGAPTQLLTESPPTPLSKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPA VVQQVQVVPPKAEQQQVVQIPQQALRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATA AATSNTTCSSPASRAPHLSGTSKKHSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNT GGQQQLTVQNVSGNNLTISGLSPTQIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTF RKTSLLRAHVRLHTGERPFVCNWFFCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNL*

Gene Symbol:	SP2
Accession:	XM_017024968
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_047436575
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQAPQGPEEHPA*

Gene Symbol:	SP2
Accession:	XM_047436573
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_047436571
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_047436570
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_047436572
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPEEGAVVSQ SDPHWDQELIGTQGLRCCAD*

Gene Symbol:	SP2
Accession:	XM_047436569
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPG KNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIP GTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPL SKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQA LRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKK HSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPT QIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWF FCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPE EGAVVSQSDPHWDQAPQGPEEHPA*

Gene Symbol:	SP2
Accession:	XM_047436576
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDPQTSMAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPG KNSFGILSSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIP GTNQAIITPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPL SKTNKKARKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQA LRVVQAASATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKK HSAAILRKERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPT QIQLQMEQALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWF FCGKRFTRSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNFCLRQNLQLGSSASFVFSLGELGEGTPE EGAVVSQSDPHWDQGP*

Gene Symbol:	SP2
Accession:	XM_047436577
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAATAAVSPSDYLQPAASTTQDSQPSPLALLAATCSKIGPPAVEAAVTPPAPPQPTPRKLVPIKPAPLPLSPGKNSFGIL SSKGNILQIQGSQLSASYPGGQLVFAIQNPTMINKGTRSNANIQYQAVPQIQASNSQTIQVQPNLTNQIQIIPGTNQAII TPSPSSHKPVPIKPAPIQKSSTTTTPVQSGANVVKLTGGGGNVTLTLPVNNLVNASDTGAPTQLLTESPPTPLSKTNKKA RKKSLPASQPPVAVAEQVETVLIETTANNIIQAGNNLLIVQSPGGGQPAVVQQVQVVPPKAEQQQVVQIPQQALRVVQAA SATLPTVPQKPSQNFQIQAAEPTPTQVYIRTPSGEVQTVLVQDSPPATAAATSNTTCSSPASRAPHLSGTSKKHSAAILR KERPLPKIAPAGSIISLNAAQLAAAAQAMQTININGVQVQGVPVTITNTGGQQQLTVQNVSGNNLTISGLSPTQIQLQME QALAGETQPGEKRRRMACTCPNCKDGEKRSGEQGKKKHVCHIPDCGKTFRKTSLLRAHVRLHTGERPFVCNWFFCGKRFT RSDELQRHARTHTGDKRFECAQCQKRFMRSDHLTKHYKTHLVTKNL*

Gene Symbol:	SP2-AS1
Accession:	NR_103857
Location:	INTRON;NON-CODING

Gene Symbol:	SP2-AS1
Accession:	NR_103856
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002782947	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	SP2	CLINVAR
	SP2-AS1	CLINVAR
OMIM	601801	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:156067008 - Homo sapiens

Imported Disease Annotations - ClinVar